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
ASPA	443	broad.mit.edu	37	17	3392538	3392538	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:3392538T>C	ENST00000263080.2	+	4	694	c.536T>C	c.(535-537)gTt>gCt	p.V179A	ASPA_ENST00000456349.2_Missense_Mutation_p.V179A|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	179					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	GGTATAGAAGTTGGTCCTCAG	0.303000													7	55					0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71646647	71646647	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:71646647C>T	ENST00000408926.3	+	5	1644	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	XKR9_ENST00000520030.1_Silent_p.F370F|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	370						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGAGATATTTCCTAATGGAAT	0.294000													13	23					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42907175	42907175	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:42907175G>A	ENST00000244289.4	-	9	2827	c.2551C>T	c.(2551-2553)Cgc>Tgc	p.R851C	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	851					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				ACACTGCGGCGCATCGGCTCT	0.622000													8	30					0	0	1	0	0
CIZ1	25792	broad.mit.edu	37	9	130941272	130941272	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:130941272G>A	ENST00000538431.1	-	8	1461	c.1214C>T	c.(1213-1215)cCa>cTa	p.P405L	CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000393608.1_Missense_Mutation_p.P405L|CIZ1_ENST00000372948.3_Intron|CIZ1_ENST00000372954.1_Intron|CIZ1_ENST00000277465.4_Missense_Mutation_p.P405L|CIZ1_ENST00000357558.5_Missense_Mutation_p.P405L|CIZ1_ENST00000325721.8_Missense_Mutation_p.P376L|CIZ1_ENST00000372938.5_Missense_Mutation_p.P405L|CIZ1_ENST00000541172.1_Missense_Mutation_p.P304L	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	405	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						ctgcacctgtggctgcacctg	0.622000													15	44					0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50813882	50813882	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:50813882C>T	ENST00000540145.1	+	9	1860	c.1445C>T	c.(1444-1446)cCt>cTt	p.P482L	CYLD_ENST00000569418.1_Missense_Mutation_p.P479L|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000566206.1_Missense_Mutation_p.P479L|CYLD_ENST00000398568.2_Missense_Mutation_p.P479L|CYLD_ENST00000427738.3_Missense_Mutation_p.P482L|CYLD_ENST00000564326.1_Missense_Mutation_p.P479L|CYLD_ENST00000311559.9_Missense_Mutation_p.P482L			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	482	Interaction with IKBKG/NEMO.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAGGAGAACCCTCCTTTCTAT	0.502000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				11	25					0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53804996	53804996	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:53804996C>T	ENST00000426431.2	+	6	2369	c.2309C>T	c.(2308-2310)tCc>tTc	p.S770F	SP1_ENST00000327443.4_Missense_Mutation_p.S777F	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	777	Domain D.|VZV IE62-binding.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GATCTGCAGTCCATTAATATC	0.547000													9	65					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2923823	2923823	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:2923823G>A	ENST00000254695.8	+	19	1775	c.1685G>A	c.(1684-1686)cGa>cAa	p.R562Q	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.R543Q|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.R547Q|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.R562Q	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	562					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCCATCAAGCGACGCTCGGGG	0.622000													5	25					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924369	70924369	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:70924369G>A	ENST00000603540.1	+	2	411	c.153G>A	c.(151-153)agG>agA	p.R51R	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.R51R	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	51					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGATCAGCAGGGGCAGAAGTG	0.527000													24	107					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9729454	9729454	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:9729454C>T	ENST00000262441.5	+	1	587	c.74C>T	c.(73-75)cCc>cTc	p.P25L	GLP2R_ENST00000574745.1_Intron	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	25					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CACGAGCTGCCCATGGGCATC	0.657000													12	11					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42224816	42224816	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:42224816G>A	ENST00000541110.1	-	11	2989	c.2421C>T	c.(2419-2421)ttC>ttT	p.F807F	TRERF1_ENST00000340840.2_Silent_p.F704F|TRERF1_ENST00000372922.4_Silent_p.F787F|TRERF1_ENST00000372917.4_Silent_p.F704F|TRERF1_ENST00000354325.2_Silent_p.F704F			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	787	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTTCTGCTTGGAATCTCAAGC	0.473000													28	58					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85383770	85383770	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:85383770G>A	ENST00000258888.5	+	5	2033	c.1866G>A	c.(1864-1866)ctG>ctA	p.L622L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	622					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACATGTACCTGGAGAACACCC	0.647000													21	40					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399237	46399237	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:46399237G>A	ENST00000292301.4	+	2	704	c.219G>A	c.(217-219)ctG>ctA	p.L73L	CCR2_ENST00000400888.2_Silent_p.L73L|CCR2_ENST00000445132.2_Silent_p.L73L|CCR2_ENST00000465202.1_Intron	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	73					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GCAAAAAGCTGAAGTGCTTGA	0.488000													34	71					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39225968	39225968	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:39225968G>A	ENST00000340369.3	-	2	5197	c.4969C>T	c.(4969-4971)Cct>Tct	p.P1657S	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.P340S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1657							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAAACCCGAGGAGGGCACAAA	0.532000													21	37					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21098308	21098308	+	Silent	SNP	C	C	T	rs73542653	byFrequency	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:21098308C>T	ENST00000261383.3	-	19	2738	c.2739G>A	c.(2737-2739)ctG>ctA	p.L913L	DNAH3_ENST00000415178.1_Silent_p.L913L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	913	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGTCTTGATCAGTTTATACG	0.453000													41	76					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32072297	32072297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:32072297C>T	ENST00000438447.1	+	17	2987	c.2599C>T	c.(2599-2601)Cag>Tag	p.Q867*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.Q867*			O15018	PDZD2_HUMAN	PDZ domain containing 2	867					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAACTCTCCCAGTACTTTGC	0.507000													17	67					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57233610	57233610	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:57233610G>A	ENST00000343433.6	-	5	1035	c.953_splice	c.e5-1	p.L319_splice	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	319										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GCATTGAAAAGCCTGGAGAAA	0.318000													4	36					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19574185	19574185	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:19574185G>A	ENST00000409832.3	+	9	1294		c.e9-1			NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G											cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TTTCATTCAAGGTTGAAGAAG	0.333000													14	63					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241660412	241660412	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:241660412G>T	ENST00000498729.2	-	45	5033	c.4787C>A	c.(4786-4788)tCc>tAc	p.S1596Y	KIF1A_ENST00000320389.7_Missense_Mutation_p.S1495Y	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1495	PH.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCCTAGAGGGGACATCGACGG	0.647000													6	14					2.0095e-06	2.02791e-06	1	1	0
AMER2	219287	broad.mit.edu	37	13	25745442	25745442	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:25745442G>A	ENST00000357816.2	-	2	791	c.316C>T	c.(316-318)Cac>Tac	p.H106Y	AMER2_ENST00000381853.3_Missense_Mutation_p.H106Y|AMER2_ENST00000515384.1_Missense_Mutation_p.H106Y					APC membrane recruitment protein 2																		AGTCCGTCGTGGGTCCTGCTC	0.692000													8	29					0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78417063	78417063	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:78417063C>T	ENST00000274353.5	+	5	607	c.500C>T	c.(499-501)gCt>gTt	p.A167V	BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_5'UTR	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	167	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GTTGAAGAAGCTGTGTGGGCA	0.443000													43	125					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94248558	94248558	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:94248558C>T	ENST00000515393.1	-	9	1473	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	MCTP1_ENST00000505208.1_Missense_Mutation_p.D271N|MCTP1_ENST00000429576.2_Missense_Mutation_p.D225N|MCTP1_ENST00000505078.1_Missense_Mutation_p.D8N|MCTP1_ENST00000312216.8_Missense_Mutation_p.D271N	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	492	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ACGTAGGGATCGCTCAACCCG	0.468000													12	45					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119501481	119501481	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:119501481A>T	ENST00000368468.3	-	12	2272	c.1831T>A	c.(1831-1833)Ttg>Atg	p.L611M		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	611					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACCTACTTCAATGTCTCTGCC	0.388000													18	21					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73636140	73636140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:73636140C>T	ENST00000261917.3	-	2	1788	c.795G>A	c.(793-795)tgG>tgA	p.W265*		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	265					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGGTCAGGTCCCAGTAAAATC	0.517000													23	47					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139703086	139703086	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:139703086G>A	ENST00000303045.6	-	36	3232	c.2786C>T	c.(2785-2787)cCc>cTc	p.P929L	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P929L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	929	Collagen-like 8.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGGGCCACTGGGACCGGGGGC	0.562000										HNSCC(7;0.00092)			8	12					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131521549	131521549	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:131521549C>T	ENST00000423981.1	+	2	2014	c.1904C>T	c.(1903-1905)cCt>cTt	p.P635L	AMER3_ENST00000321420.4_Missense_Mutation_p.P635L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GCCCCAGTTCCTTCTACCTGG	0.582000													4	30					0	0	1	0	0
SMCO1	255798	broad.mit.edu	37	3	196236500	196236500	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:196236500C>T	ENST00000397537.2	-	2	247	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_001077657.1	NP_001071125.1			single-pass membrane protein with coiled-coil domains 1																		AAGTCTAGTTCTTTGAACTGT	0.418000													35	45					0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104263709	104263709	+	Splice_Site	SNP	A	A	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:104263709A>G	ENST00000202556.9	-	2	438	c.157_splice	c.e2+1	p.N52_splice		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	52					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				AATACATACCATTTCCCCTCC	0.388000													30	52					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955867	51955867	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:51955867C>T	ENST00000321424.3	-	7	1332	c.1266G>A	c.(1264-1266)tgG>tgA	p.W422*	SIGLEC8_ENST00000430817.1_Nonsense_Mutation_p.W313*|SIGLEC8_ENST00000340550.5_Nonsense_Mutation_p.W329*	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	422					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.W422C(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGCCATCTTTCCAGGATTCAG	0.587000													14	31					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183651370	183651370	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:183651370G>A	ENST00000511685.1	+	15	2726	c.2603G>A	c.(2602-2604)aGa>aAa	p.R868K	TENM3_ENST00000406950.2_Missense_Mutation_p.R868K|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		TCTGTCATCAGAGGCCAAGTA	0.403000													21	43					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21178651	21178651	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:21178651G>C	ENST00000255882.6	-	4	505	c.419C>G	c.(418-420)tCt>tGt	p.S140C	PI4KA_ENST00000572273.1_Missense_Mutation_p.S82C	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	82					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGCCACATCAGACAGCAGAGT	0.443000													4	123					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53217736	53217736	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:53217736C>T	ENST00000330553.5	-	6	1115	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	361	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCAGCAATCTCGTTCTTGGTG	0.602000													21	18					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407704	105407704	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:105407704A>T	ENST00000333244.5	-	7	14203	c.14084T>A	c.(14083-14085)aTg>aAg	p.M4695K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4695						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTCGAATCCATTCCAACTTC	0.408000													15	17					0	0	1	0	0
CTSS	1520	broad.mit.edu	37	1	150722617	150722617	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:150722617G>A	ENST00000368985.3	-	6	918	c.658C>T	c.(658-660)Cgt>Tgt	p.R220C	CTSS_ENST00000480760.1_Intron|CTSS_ENST00000448301.2_Missense_Mutation_p.R170C	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	220					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTGGCAGCACGATATTTTGAG	0.393000													14	14					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902461	40902461	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:40902461G>C	ENST00000324001.7	-	7	2068	c.1798C>G	c.(1798-1800)Ctc>Gtc	p.L600V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	600	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTTCAGGGAGTTTCATCTCA	0.557000													101	155					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91454697	91454697	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:91454697C>T	ENST00000360468.3	+	13	2044	c.2026C>T	c.(2026-2028)Ctt>Ttt	p.L676F	MAN2A2_ENST00000431652.2_Missense_Mutation_p.L184F|MAN2A2_ENST00000559717.1_Missense_Mutation_p.L676F	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	676					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CGTGCGTGTCCTTTCGGAGGA	0.617000													38	67					0	0	1	0	0
C1QTNF4	114900	broad.mit.edu	37	11	47612288	47612288	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:47612288G>A	ENST00000302514.3	-	2	591	c.75C>T	c.(73-75)tcC>tcT	p.S25S		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	25	C1q 1.					extracellular region				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GCAGCTCAGAGGATCCCGGGC	0.731000													7	9					0	0	1	0	0
TIMM50	92609	broad.mit.edu	37	19	39971456	39971456	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:39971456G>A	ENST00000314349.4	+	1	405	c.272G>A	c.(271-273)aGg>aAg	p.R91K		NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	65					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGGGCGAAGAGGGAGCGAGTG	0.731000													8	10					0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20940614	20940614	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:20940614C>T	ENST00000361505.5	+	2	305	c.159C>T	c.(157-159)atC>atT	p.I53I		NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	53					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	ACGGTGAAATCCCCAACTTTC	0.478000													6	25					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149482603	149482603	+	RNA	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:149482603G>A	ENST00000378016.2	+	0	3019							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCACTGCACAGGCCAGCGGCG	0.662000													11	6					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133759903	133759903	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:133759903C>T	ENST00000318560.5	+	11	2607	c.2226C>T	c.(2224-2226)tcC>tcT	p.S742S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	742					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	ACTTGCAGTCCACGGGAAGAC	0.617000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								10	28					0	0	1	0	0
CCNT2	905	broad.mit.edu	37	2	135694410	135694410	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:135694410G>A	ENST00000264157.5	+	3	270		c.e3-1		CCNT2_ENST00000295238.6_Splice_Site|CCNT2_ENST00000537343.1_Splice_Site	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2						cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CTTTTCTGCAGATAATATCGT	0.343000													14	25					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197071976	197071976	+	Silent	SNP	A	A	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:197071976A>G	ENST00000367409.4	-	18	6661	c.6405T>C	c.(6403-6405)agT>agC	p.S2135S	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2135	IQ 17.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGTATGGTAACTTATTCTTG	0.338000													31	57					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62728911	62728911	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:62728911C>T	ENST00000371153.4	-	7	2770	c.2392G>A	c.(2392-2394)Gtg>Atg	p.V798M	KANK4_ENST00000354381.3_Missense_Mutation_p.V170M|KANK4_ENST00000371150.1_Missense_Mutation_p.V154M|KANK4_ENST00000317477.4_De_novo_Start_InFrame	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	798										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TAGGAGGCCACCACGGCGGGG	0.562000													8	34					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452913	138452913	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:138452913C>T	ENST00000344876.4	-	1	716	c.330G>A	c.(328-330)gtG>gtA	p.V110V	PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Silent_p.V110V|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	110	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTAGAGTGATCACATCAAACT	0.408000													50	81					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36899254	36899254	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:36899254C>T	ENST00000301807.6	-	12	2074	c.177G>A	c.(175-177)agG>agA	p.R59R	TRANK1_ENST00000428977.2_Silent_p.R59R|TRANK1_ENST00000429976.2_Silent_p.R609R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	609					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGCTCCTCCTCCTGTTCTCCA	0.537000													43	89					0	0	1	0	0
WDR25	79446	broad.mit.edu	37	14	100996221	100996221	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:100996221C>T	ENST00000335290.6	+	7	1704	c.1478C>T	c.(1477-1479)gCc>gTc	p.A493V	WDR25_ENST00000554998.1_Missense_Mutation_p.A493V|WDR25_ENST00000402312.3_Missense_Mutation_p.A493V|WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000542471.2_Missense_Mutation_p.A236V	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	493										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				ACGGGCAGCGCCGATGGCCGG	0.662000													27	38					0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133014436	133014436	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:133014436C>T	ENST00000367928.4	-	4	566	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	185	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		AATTGATTTTCACCCATGAAA	0.358000													11	19					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40853555	40853555	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:40853555C>T	ENST00000255224.3	-	2	1207	c.839G>A	c.(838-840)aGa>aAa	p.R280K	SYT4_ENST00000590752.1_Missense_Mutation_p.R262K|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	280	Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CCTAACATTTCTCTTGATGAT	0.289000													6	13					0	0	1	0	0
TRAV26-1	28657	broad.mit.edu	37	14	22591956	22591956	+	RNA	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:22591956G>A	ENST00000390455.3	+	0	250																											GACCCCTTAGGAACTATAATT	0.438000													42	62					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175567	51175567	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:51175567G>A	ENST00000440970.1	-	2	706	c.275C>T	c.(274-276)tCc>tTc	p.S92F	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S189F|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	189					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTTGATTACGGAGAAGTTGCC	0.632000													25	37					0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249211534	249211534	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:249211534C>T	ENST00000539153.1	+	4	997	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	PGBD2_ENST00000355360.4_5'UTR|PGBD2_ENST00000329291.5_Missense_Mutation_p.R251W|PGBD2_ENST00000462488.1_3'UTR			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	251										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCTCATCATCCGGATGAACTG	0.458000													16	91					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25004789	25004789	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:25004789C>T	ENST00000533227.1	+	9	744	c.457C>T	c.(457-459)Cca>Tca	p.P153S	LUZP2_ENST00000336930.6_Missense_Mutation_p.P239S	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	239						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GATGTTACTCCCACCCAGGAA	0.448000													21	74					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133235967	133235967	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:133235967G>A	ENST00000320574.5	-	26	3232	c.3189C>T	c.(3187-3189)ttC>ttT	p.F1063F	POLE_ENST00000535270.1_Silent_p.F1036F	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1063					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGTCTCCCAGGAACTCGGCCA	0.602000								DNA polymerases (catalytic subunits)					4	27					0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886755	123886755	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:123886755G>C	ENST00000320891.4	+	1	474	c.474G>C	c.(472-474)caG>caC	p.Q158H		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGCTGTCCAGACCATATTGA	0.572000													23	109					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91454696	91454696	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:91454696C>T	ENST00000360468.3	+	13	2043	c.2025C>T	c.(2023-2025)gtC>gtT	p.V675V	MAN2A2_ENST00000431652.2_Silent_p.V183V|MAN2A2_ENST00000559717.1_Silent_p.V675V	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	675					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCGTGCGTGTCCTTTCGGAGG	0.622000													37	68					0	0	1	0	0
BTN2A1	11120	broad.mit.edu	37	6	26465589	26465589	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:26465589C>T	ENST00000429381.1	+	5	1101	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	BTN2A1_ENST00000312541.5_Silent_p.L297L|BTN2A1_ENST00000469185.1_Silent_p.L297L|BTN2A1_ENST00000541522.1_Silent_p.L236L			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	297					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TCTAAAGGAACTGGAGAAAGA	0.428000													27	89					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38153722	38153722	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:38153722C>T	ENST00000308059.6	+	25	3557	c.3536C>T	c.(3535-3537)tCc>tTc	p.S1179F	DLEC1_ENST00000452631.2_Missense_Mutation_p.S1182F|DLEC1_ENST00000346219.3_Missense_Mutation_p.S1179F			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1179					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGCATGCTATCCCACGGGAAA	0.567000													38	71					0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9067432	9067432	+	Missense_Mutation	SNP	C	C	T	rs144505778	byFrequency	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:9067432C>T	ENST00000400906.1	-	10	1128	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	377						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TAGGACAGCTCGGGGACCCTG	0.672000													9	57					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111901496	111901496	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:111901496G>A	ENST00000368761.5	-	3	1404	c.926C>T	c.(925-927)cCt>cTt	p.P309L	TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000607066.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.P309L|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.P318L	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	318					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CTTCTGCACAGGGTGCAGGCC	0.612000													15	57					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148854073	148854073	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:148854073C>T	ENST00000367467.3	+	14	2180	c.1705C>T	c.(1705-1707)Ccc>Tcc	p.P569S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	569	SH3.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CACCCCCAGTCCCTATGACAC	0.582000													23	131					0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7132918	7132918	+	Missense_Mutation	SNP	G	G	A	rs151191814		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:7132918G>A	ENST00000005340.5	-	6	1018	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	DVL2_ENST00000575458.1_Missense_Mutation_p.R240C|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	246					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CTCTCCAGGCGGGGTGGCCTC	0.662000													24	78					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129861391	129861391	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:129861391G>A	ENST00000254667.3	+	10	949	c.670G>A	c.(670-672)Gag>Aag	p.E224K	PTPRE_ENST00000306042.5_Missense_Mutation_p.E166K|PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000419012.2_Missense_Mutation_p.E224K	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	224	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				AATGGTCTGGGAGCAAAAGTC	0.488000													6	18					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7671530	7671530	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:7671530T>C	ENST00000572933.1	+	24	5346	c.3886T>C	c.(3886-3888)Ttc>Ctc	p.F1296L	DNAH2_ENST00000389173.2_Missense_Mutation_p.F1296L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1296	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AATAGAGCAGTTCAAGAGGAC	0.557000													61	86					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170102423	170102423	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:170102423C>T	ENST00000458537.3	+	3	2008	c.1299C>T	c.(1297-1299)tcC>tcT	p.S433S	SKIL_ENST00000426052.2_Silent_p.S413S|SKIL_ENST00000259119.4_Silent_p.S433S|SKIL_ENST00000413427.2_Intron	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	433					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAAGTAAGTCCATATCAAGAC	0.403000													21	84					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43048456	43048456	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:43048456G>A	ENST00000316099.3	+	7	921	c.832G>A	c.(832-834)Gag>Aag	p.E278K	HNF4A_ENST00000443598.2_Missense_Mutation_p.E278K|HNF4A_ENST00000457232.1_Missense_Mutation_p.E256K|HNF4A_ENST00000415691.1_Missense_Mutation_p.E278K	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	278					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCCTTCCAGGAGCTGCAGAT	0.562000													32	56					0	0	1	0	0
POMT2	29954	broad.mit.edu	37	14	77750178	77750178	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:77750178G>A	ENST00000261534.4	-	15	1817	c.1615C>T	c.(1615-1617)Cct>Tct	p.P539S		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	539					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		AAGATCTCAGGAAAACTGGGC	0.473000													30	50					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140386855	140386855	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:140386855C>T	ENST00000072869.4	+	5	1549	c.1371C>T	c.(1369-1371)aaC>aaT	p.N457N	ADCK2_ENST00000476491.1_Silent_p.N457N	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	457	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					AGGGTGCCAACGGCCTGTCCT	0.577000													39	40					0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380724	56380724	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:56380724G>A	ENST00000526538.1	-	1	254	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F85F(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GTTCTGAGAGGAAATTGTGCA	0.448000													12	59					0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36297373	36297373	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:36297373C>T	ENST00000301175.3	-	8	1205	c.1188G>A	c.(1186-1188)atG>atA	p.M396I		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	396					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGGGTCTTCCATCCCATGGA	0.607000													25	67					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111515	57111515	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:57111515G>A	ENST00000454682.1	-	3	4080	c.3799C>T	c.(3799-3801)Cca>Tca	p.P1267S	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GTTGCAGCTGGGGGAGTGGGG	0.642000			T	BCL6	NHL								42	55					0	0	1	0	0
SPATA31D3	389762	broad.mit.edu	37	9	84562780	84562780	+	RNA	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:84562780G>A	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							ATTAAACATCGAAATTTGGCA	0.458000													3	12					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196741396	196741396	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:196741396C>T	ENST00000312428.6	-	37	6089	c.5989G>A	c.(5989-5991)Gaa>Aaa	p.E1997K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1997	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGTAGATTTCCTTATTTAGT	0.303000													8	28					0	0	1	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986016	11986016	+	RNA	SNP	C	C	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:11986016C>A	ENST00000434078.2	+	0	608					NR_027425.1																						AACGTCTTGGCGGCAGGCGCC	0.478000													5	48					0.000602214	0.000604961	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26239861	26239861	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:26239861G>A	ENST00000335473.7	+	18	3618	c.3368_splice	c.e18+1	p.R1123_splice	MYO18B_ENST00000407587.2_Splice_Site_p.R1124_splice|MYO18B_ENST00000536101.1_Splice_Site_p.R1123_splice	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1123	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGTCAAAAAGGTGAGTTGGG	0.602000													23	26					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47304072	47304072	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:47304072C>T	ENST00000342922.4	+	9	1967	c.1610C>T	c.(1609-1611)cCt>cTt	p.P537L	MADD_ENST00000407859.3_Missense_Mutation_p.P537L|MADD_ENST00000402192.2_Missense_Mutation_p.P537L|MADD_ENST00000395336.3_Missense_Mutation_p.P537L|MADD_ENST00000402799.1_Missense_Mutation_p.P537L|MADD_ENST00000406482.1_Missense_Mutation_p.P537L|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000395344.3_Missense_Mutation_p.P537L|MADD_ENST00000311027.5_Missense_Mutation_p.P537L|MADD_ENST00000349238.3_Missense_Mutation_p.P537L	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	537	dDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CGGCAGACTCCTTTTGCCGAG	0.542000													4	35					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34049299	34049299	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:34049299G>A	ENST00000373381.4	-	47	7359	c.7183C>T	c.(7183-7185)Ctc>Ttc	p.L2395F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2397	CUB 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCACTGTGAGGGAGATGTTA	0.507000													21	94					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	107712861	107712861	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:107712861C>T	ENST00000280758.5	+	1	672	c.144C>T	c.(142-144)ggC>ggT	p.G48G	BTBD11_ENST00000420571.2_Silent_p.G48G|BTBD11_ENST00000490090.2_Silent_p.G48G	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	48						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCCCGTATGGCGGGAGCTGCT	0.632000													4	6					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40877407	40877407	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:40877407G>A	ENST00000373198.3	-	15	2524	c.2289C>T	c.(2287-2289)acC>acT	p.T763T	PTPRT_ENST00000356100.2_Silent_p.T763T|PTPRT_ENST00000373201.1_Silent_p.T744T|PTPRT_ENST00000373184.1_Silent_p.T744T|PTPRT_ENST00000373190.1_Silent_p.T744T|PTPRT_ENST00000373193.3_Silent_p.T744T|PTPRT_ENST00000373187.1_Silent_p.T744T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	744					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCATCTTCACGGTGTTGTCCA	0.532000													19	28					0	0	1	0	0
UPF3B	65109	broad.mit.edu	37	X	118971734	118971734	+	Nonsense_Mutation	SNP	G	G	A	rs122468181		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:118971734G>A	ENST00000276201.2	-	10	1357	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	UPF3B_ENST00000345865.2_Nonsense_Mutation_p.R417*	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	430	Necessary for interaction with RBM8A and for activating NMD.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTTCTTATTCGATCTCTCTTG	0.373000													11	34					0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140245817	140245817	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:140245817G>A	ENST00000340951.4	-	13	1532	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	EXD3_ENST00000342129.4_Missense_Mutation_p.S126F	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	446					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CACCAGCCGGGAAAAGGCCTG	0.672000													6	16					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160843705	160843705	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:160843705C>T	ENST00000283243.7	-	12	2205	c.1999G>A	c.(1999-2001)Gac>Aac	p.D667N	PLA2R1_ENST00000392771.1_Missense_Mutation_p.D667N	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	667					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GACTCCCAGTCCAAATAGCAG	0.458000													23	30					0	0	1	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439540	150439540	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:150439540C>T	ENST00000358647.3	+	3	680	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACTGCTACCTGCTCTCTGC	0.577000													57	70					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662587	662587	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:662587C>T	ENST00000266383.5	+	14	1511	c.1498C>T	c.(1498-1500)Cca>Tca	p.P500S		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	500						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AGCGTCCTTCCCAGGGAGGAC	0.627000													20	68					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1730378	1730378	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:1730378C>T	ENST00000313288.4	+	4	1355	c.1249C>T	c.(1249-1251)Ccg>Tcg	p.P417S		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	417						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AAACTTCATCCCGTTCGGAGG	0.622000													40	75					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52841704	52841704	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:52841704C>T	ENST00000252252.3	-	7	1329	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	428	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCCAGCCCTTCCAGCTTGTTC	0.592000													30	83					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68619031	68619031	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:68619031G>A	ENST00000423218.2	-	17	2267	c.2172C>T	c.(2170-2172)tcC>tcT	p.S724S	ITGA11_ENST00000315757.7_Silent_p.S724S			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	724					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GCTCCTGGCCGGAGGAGAGCA	0.612000													3	8					0	0	1	0	0
IFNW1	3467	broad.mit.edu	37	9	21141427	21141427	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:21141427G>A	ENST00000380229.2	-	1	717	c.143C>T	c.(142-144)tCc>tTc	p.S48F		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	48					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAAGAAAGGGGAGATTCTCCT	0.517000													58	92					0	0	1	0	0
CASP7	840	broad.mit.edu	37	10	115480834	115480834	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:115480834C>T	ENST00000369321.2	+	4	573	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	CASP7_ENST00000369331.4_Missense_Mutation_p.R52W|CASP7_ENST00000369318.3_Missense_Mutation_p.R52W|CASP7_ENST00000452490.2_Missense_Mutation_p.R27W|CASP7_ENST00000369315.1_Missense_Mutation_p.R52W|CASP7_ENST00000345633.4_Missense_Mutation_p.R52W|CASP7_ENST00000468790.1_3'UTR	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	52					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		CAAGACCACCCGGGACCGAGT	0.418000													33	50					0	0	1	0	0
ZNF324	25799	broad.mit.edu	37	19	58983452	58983452	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:58983452G>A	ENST00000536459.2	+	4	2302	c.1593G>A	c.(1591-1593)gcG>gcA	p.A531A	ZNF324_ENST00000535298.1_Silent_p.A308A|ZNF324_ENST00000196482.3_Silent_p.A531A			O75467	Z324A_HUMAN	zinc finger protein 324	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CAGAAGGTGCGCCAGCGAAGG	0.677000													4	66					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7633767	7633767	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:7633767C>T	ENST00000359156.4	-	15	3535	c.3333G>A	c.(3331-3333)atG>atA	p.M1111I	CD163_ENST00000396620.3_Missense_Mutation_p.M1144I|CD163_ENST00000432237.2_Missense_Mutation_p.M1111I|CD163_ENST00000541972.1_Missense_Mutation_p.M1099I	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1111					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTGAGGAATTCATTAGGTCCA	0.448000													25	58					0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42298225	42298225	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:42298225C>T	ENST00000399518.3	-	4	974	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.R134Q	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	145					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GGTTTTCTTTCGGAAACAGAG	0.507000													16	31					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921501	24921501	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:24921501G>A	ENST00000329468.2	+	1	961	c.487G>A	c.(487-489)Gat>Aat	p.D163N		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AGTGAAGAAGGATGAGGATCC	0.627000													5	36					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124377707	124377707	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:124377707G>A	ENST00000368909.3	+	38	4785	c.4679G>A	c.(4678-4680)gGa>gAa	p.G1560E	DMBT1_ENST00000330163.4_Missense_Mutation_p.G932E|DMBT1_ENST00000359586.6_Missense_Mutation_p.G411E|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1550E|DMBT1_ENST00000368956.2_Missense_Mutation_p.G932E|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1550E|DMBT1_ENST00000338354.3_Missense_Mutation_p.G1560E	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1560	SRCR 12.				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			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)				TCAGCCCCAGGAAATGCCCAG	0.612000													42	222					0	0	1	0	0
ZNF77	58492	broad.mit.edu	37	19	2936597	2936597	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:2936597G>A	ENST00000314531.4	-	3	328	c.236C>T	c.(235-237)tCc>tTc	p.S79F		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		AATAGACCAGGAATCACTTCC	0.428000													15	23					0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115624483	115624483	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:115624483G>A	ENST00000265440.7	-	2	193	c.13C>T	c.(13-15)Cat>Tat	p.H5Y	TFEC_ENST00000393485.1_Missense_Mutation_p.H5Y|TFEC_ENST00000320239.7_Missense_Mutation_p.H5Y|TFEC_ENST00000484212.1_Missense_Mutation_p.H95Y	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	5	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ATGATCTGATGATCAAGGGTC	0.478000													10	121					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577332	9577332	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:9577332C>T	ENST00000301480.4	-	10	2504	c.2291G>A	c.(2290-2292)gGa>gAa	p.G764E		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	764					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GGGTTTCTCTCCCATATGAGT	0.448000													6	64					0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34355172	34355172	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:34355172A>G	ENST00000383263.5	+	3	924	c.254A>G	c.(253-255)aAc>aGc	p.N85S	CHRM5_ENST00000557872.1_Missense_Mutation_p.N85S	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	85					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	TTCTCCATGAACCTCTACACC	0.507000													8	22					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94156622	94156622	+	Silent	SNP	C	C	T	rs143380002	byFrequency	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:94156622C>T	ENST00000553484.1	+	47	7582	c.7428C>T	c.(7426-7428)atC>atT	p.I2476I	UNC79_ENST00000555664.1_Silent_p.I2415I|UNC79_ENST00000393151.2_Silent_p.I2454I|UNC79_ENST00000256339.4_Silent_p.I2277I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2454						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTATTGTTATCCTGATTGGAT	0.463000													27	29					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48318664	48318664	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:48318664A>T	ENST00000435803.1	+	18	7897	c.7873A>T	c.(7873-7875)Atg>Ttg	p.M2625L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2625					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACTCTCATATATGAACCAATC	0.358000													9	30					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186015882	186015882	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:186015882C>T	ENST00000265022.3	-	4	820	c.281G>A	c.(280-282)gGa>gAa	p.G94E	DGKG_ENST00000382164.4_Missense_Mutation_p.G94E|DGKG_ENST00000544847.1_Missense_Mutation_p.G94E|DGKG_ENST00000344484.4_Missense_Mutation_p.G94E	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	94					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GTTGCTGGCTCCCTCCGTCGG	0.617000													30	57					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27726415	27726415	+	Nonsense_Mutation	SNP	C	C	T	rs149847328		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:27726415C>T	ENST00000264717.2	+	9	742	c.679C>T	c.(679-681)Cga>Tga	p.R227*	GCKR_ENST00000424318.2_Nonsense_Mutation_p.R37*	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	227	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TTCAACATTCCGACAAGTAGC	0.493000													9	43					0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6098690	6098690	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:6098690G>A	ENST00000199389.6	-	1	171	c.25C>T	c.(25-27)Cgc>Tgc	p.R9C	EIF2AK1_ENST00000536084.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	9					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TCGCGCTTGCGGACCCCGGAG	0.756000													3	4					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98994258	98994258	+	Silent	SNP	C	C	T	rs145057274	byFrequency	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:98994258C>T	ENST00000393504.1	+	3	627	c.210C>T	c.(208-210)atC>atT	p.I70I	CNGA3_ENST00000436404.2_Silent_p.I70I|CNGA3_ENST00000409937.1_Silent_p.I19I|CNGA3_ENST00000272602.2_Silent_p.I70I	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	70					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCCAGGGGATCGCCAGGTAAC	0.607000													5	20					0	0	1	0	0
PRKAR2A	5576	broad.mit.edu	37	3	48828002	48828002	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:48828002A>T	ENST00000265563.8	-	4	659	c.410T>A	c.(409-411)aTt>aAt	p.I137N	PRKAR2A_ENST00000454963.1_Missense_Mutation_p.I137N|PRKAR2A_ENST00000296446.8_Missense_Mutation_p.I137N	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	137	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		GAAAAGGAGAATATCTTTGCA	0.308000													23	66					0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240985307	240985307	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:240985307G>A	ENST00000319423.4	-	1	182	c.183C>T	c.(181-183)taC>taT	p.Y61Y		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y61Y(1)		endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AGCTCAGAAAGTAGTACATGG	0.552000													6	107					0	0	1	0	0
OXCT2	64064	broad.mit.edu	37	1	40236095	40236095	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:40236095C>T	ENST00000327582.5	-	1	925	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	278					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	GCGCTCAATTCGTTTCTCGTA	0.517000											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	83					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46262244	46262244	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:46262244G>A	ENST00000372004.3	+	9	1044	c.828G>A	c.(826-828)aaG>aaA	p.K276K	NCOA3_ENST00000371998.3_Silent_p.K276K|NCOA3_ENST00000341724.6_Silent_p.K276K|NCOA3_ENST00000371997.3_Silent_p.K276K	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	276					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TAATAGGAAAGGTTGTCAATA	0.353000													18	26					0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7132919	7132919	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:7132919G>A	ENST00000005340.5	-	6	1017	c.735C>T	c.(733-735)ccC>ccT	p.P245P	DVL2_ENST00000575458.1_Silent_p.P239P|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	245					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCTCCAGGCGGGGTGGCCTCT	0.667000													24	76					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106157936	106157936	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:106157936C>T	ENST00000513237.1	+	3	3697	c.2900C>T	c.(2899-2901)aCt>aTt	p.T967I	TET2_ENST00000305737.2_Missense_Mutation_p.T946I|TET2_ENST00000380013.4_Missense_Mutation_p.T946I|TET2_ENST00000394764.1_Missense_Mutation_p.T946I|TET2_ENST00000413648.2_Missense_Mutation_p.T946I|TET2_ENST00000545826.1_Missense_Mutation_p.T946I|TET2_ENST00000540549.1_Missense_Mutation_p.T946I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	946	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAGAAGGACACTCAAAAGCAT	0.488000			"""Mis N, F"""		MDS								14	35					0	0	1	0	0
SUCLG2	8801	broad.mit.edu	37	3	67451240	67451240	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:67451240G>A	ENST00000307227.5	-	10	1125	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	SUCLG2_ENST00000493112.1_Silent_p.I366I	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	366					succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CACAGTTGACGATACCACCAA	0.453000													15	34					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40033984	40033984	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:40033984G>A	ENST00000373233.3	-	37	7574	c.7397C>T	c.(7396-7398)cCa>cTa	p.P2466L	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2466					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CATGAACAGTGGCCCCATTCC	0.587000													30	40					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52610472	52610472	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:52610472C>T	ENST00000395489.2	-	5	427	c.31G>A	c.(31-33)Gga>Aga	p.G11R	A1CF_ENST00000374001.1_Intron|A1CF_ENST00000373997.3_Intron|A1CF_ENST00000373995.3_Missense_Mutation_p.G26R|A1CF_ENST00000373993.1_Intron|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000282641.2_Intron	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	0					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GCATTATTTCCTTTTTTGAGG	0.443000													28	40					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133814214	133814214	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:133814214G>A	ENST00000321016.8	-	3	540	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R104C			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	104	Ig-like 1.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCCTCAGAGCGAACTTGTTCC	0.567000													3	19					0	0	1	0	0
COX15	1355	broad.mit.edu	37	10	101483841	101483841	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:101483841C>T	ENST00000370483.5	-	5	672	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Missense_Mutation_p.E208K	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	208					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TCTGATTTTTCTTCTAGTCCA	0.473000													18	34					0	0	1	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135265085	135265085	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:135265085G>A	ENST00000265605.2	-	2	226	c.158C>T	c.(157-159)gCc>gTc	p.A53V	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.A53V|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.A53V	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	53					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TTCTCTGGCGGCCTTGACCGC	0.587000													15	21					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101011649	101011649	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:101011649C>T	ENST00000360863.6	-	19	2985		c.e19-1		RGS22_ENST00000523287.1_Splice_Site|RGS22_ENST00000523437.1_Splice_Site	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22						negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AATGCATTACCTAAGAAAATT	0.368000													11	39					0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89245905	89245905	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:89245905C>T	ENST00000289746.2	+	2	189	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	CDH15_ENST00000521087.1_3'UTR	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	42					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TGCCCTGAGCCGCGTGCGGAG	0.667000													18	68					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600950	41600950	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:41600950C>T	ENST00000330436.3	+	8	1248	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	416					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CCCAGCACTTCCTGGATAAGA	0.567000													21	132					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101606314	101606314	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:101606314C>T	ENST00000284395.5	+	33	6063	c.5663C>T	c.(5662-5664)tCt>tTt	p.S1888F	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.S1891F|LRRK1_ENST00000532145.1_3'UTR			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1891					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCCGACAGGTCTGAGCATGAC	0.617000													63	134					0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27321460	27321460	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:27321460G>A	ENST00000407991.1	-	6	1108	c.500C>T	c.(499-501)tCc>tTc	p.S167F	CHRNA2_ENST00000240132.2_Missense_Mutation_p.S152F|CHRNA2_ENST00000520933.2_Missense_Mutation_p.S167F	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	167						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	AGTGCCCGTGGAGAAGAGGTG	0.602000													22	49					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51791323	51791323	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:51791323G>A	ENST00000251076.5	-	18	4385	c.4098C>T	c.(4096-4098)gcC>gcT	p.A1366A	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Silent_p.A1366A	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1366						cell junction|synaptic vesicle membrane	Rab GTPase binding			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)		GAGAGAGAATGGCTTTAGCCC	0.408000													9	129					0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310597	124310597	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:124310597G>A	ENST00000328064.2	-	1	457	c.385C>T	c.(385-387)Cca>Tca	p.P129S		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TACAACAGTGGGTTACAGATG	0.507000													13	23					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10541402	10541402	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:10541402G>A	ENST00000583535.1	-	27	3774	c.3687C>T	c.(3685-3687)atC>atT	p.I1229I	MYH3_ENST00000226209.7_Silent_p.I1229I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1229					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AGAGGTCATCGATCTCCAGCT	0.567000													22	85					0	0	1	0	0
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													4	18					0.00909568	0.00911638	1	1	0
ADH1B	125	broad.mit.edu	37	4	100232742	100232742	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:100232742C>T	ENST00000305046.8	-	7	967	c.900G>A	c.(898-900)caG>caA	p.Q300Q	ADH1B_ENST00000394887.3_Silent_p.Q260Q			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	300					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTGAGAGGTTCTGGGAAGCAG	0.473000													71	121					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57406584	57406584	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:57406584C>T	ENST00000543257.1	-	10	1746	c.1180G>A	c.(1180-1182)Gcg>Acg	p.A394T	C8B_ENST00000371237.4_Missense_Mutation_p.A446T|C8B_ENST00000535057.1_Missense_Mutation_p.A384T	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	446	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ATCAGGTCCGCCGTCGGCAGC	0.577000													25	26					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27668295	27668295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:27668295G>A	ENST00000260570.3	-	46	5039	c.4936C>T	c.(4936-4938)Cga>Tga	p.R1646*	KRTCAP3_ENST00000543753.1_Intron	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1646					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACCCAGTCTCGAACCTCTTCT	0.617000													3	16					0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123513174	123513174	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:123513174G>A	ENST00000392770.2	-	3	1227	c.425C>T	c.(424-426)cCc>cTc	p.P142L	SCN3B_ENST00000299333.3_Missense_Mutation_p.P142L|SCN3B_ENST00000530277.1_Missense_Mutation_p.P142L	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	142	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GACTCTTAGGGGGATCAGCCG	0.587000													19	38					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44671958	44671958	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:44671958C>T	ENST00000454036.1	+	9	1378	c.1302C>T	c.(1300-1302)gtC>gtT	p.V434V	SLC12A5_ENST00000243964.3_Silent_p.V411V|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	434					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCCCTCAGTCACAGGTGAAG	0.527000													83	123					0	0	1	0	0
FAHD2A	51011	broad.mit.edu	37	2	96072701	96072701	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:96072701C>T	ENST00000233379.4	+	3	411	c.258C>T	c.(256-258)gcC>gcT	p.A86A	FAHD2A_ENST00000447036.1_Silent_p.A86A	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	86							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						CCCTGGCTGCCCAGTTGCCAG	0.602000													7	15					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124044942	124044942	+	Missense_Mutation	SNP	A	A	T	rs142370141		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:124044942A>T	ENST00000360013.3	+	7	1329	c.1202A>T	c.(1201-1203)aAg>aTg	p.K401M	KALRN_ENST00000460856.1_Missense_Mutation_p.K401M|KALRN_ENST00000240874.3_Missense_Mutation_p.K401M	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	401					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAGGAGTGGAAGAGCTTCGCT	0.572000													19	62					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32812098	32812098	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:32812098C>T	ENST00000380250.3	+	44	6889	c.6393C>T	c.(6391-6393)tcC>tcT	p.S2131S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				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)		CCAAAATATCCATGGTGGATG	0.498000													50	70					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170493279	170493279	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:170493279C>T	ENST00000260970.3	+	14	1731	c.1511C>T	c.(1510-1512)tCt>tTt	p.S504F	PPIG_ENST00000409714.3_Missense_Mutation_p.S489F|PPIG_ENST00000448752.2_Missense_Mutation_p.S504F|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	504					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GAAAAGCAGTCTGATTCTAAA	0.323000													7	15					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236736124	236736124	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:236736124G>A	ENST00000366582.3	-	25	3578	c.3464C>T	c.(3463-3465)tCc>tTc	p.S1155F	HEATR1_ENST00000366581.2_Missense_Mutation_p.S1074F	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1155					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCATTAACGGAAATCTGAAA	0.368000													5	136					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61287908	61287908	+	Silent	SNP	C	C	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:61287908C>G	ENST00000217159.1	+	2	307	c.102C>G	c.(100-102)tcC>tcG	p.S34S	SLCO4A1_ENST00000370507.1_Silent_p.S34S	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	34					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			GGAGGGCATCCCCGGGCACAC	0.687000													6	7					0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53715120	53715120	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:53715120C>A	ENST00000306052.6	-	18	2886	c.2785G>T	c.(2785-2787)Gaa>Taa	p.E929*	LRP8_ENST00000465675.1_Intron|LRP8_ENST00000371454.2_Intron|LRP8_ENST00000354412.3_Intron|LRP8_ENST00000347547.2_Nonsense_Mutation_p.E759*	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	929					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GACCTTGgttcccccggcaag	0.592000													28	39					2.49675e-24	2.56667e-24	1	1	0
CYP3A4	1576	broad.mit.edu	37	7	99367835	99367835	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:99367835C>T	ENST00000336411.2	-	5	525	c.342G>A	c.(340-342)atG>atA	p.M114I	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	114					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TGGCACTTTTCATAAATCCCA	0.408000													13	60					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65208864	65208864	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:65208864C>T	ENST00000247226.7	+	14	2769	c.2461C>T	c.(2461-2463)Ccg>Tcg	p.P821S	PLEKHG3_ENST00000471182.2_Missense_Mutation_p.P410S|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.P382S|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.P877S	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	877					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGGGCGCAGCCCGGCCCACCT	0.667000													12	28					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43585569	43585569	+	RNA	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:43585569G>A	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							TTCTTGAAAGGAGCAATTAAG	0.512000													6	42					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522000													3	68					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15296429	15296429	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:15296429G>A	ENST00000263388.2	-	13	2088	c.2013C>T	c.(2011-2013)tcC>tcT	p.S671S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	671	EGF-like 17; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CATCCACACAGGAACCTCCCT	0.607000													28	55					0	0	1	0	0
BTNL2	56244	broad.mit.edu	37	6	32372984	32372984	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:32372984G>A	ENST00000454136.3	-	2	163	c.159C>T	c.(157-159)ctC>ctT	p.L53L	BTNL2_ENST00000429232.2_Silent_p.L53L|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374993.1_Silent_p.L53L|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000374995.3_Silent_p.L53L			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	53	Ig-like V-type 1.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCCTCTTGGGGAGTAGCTGGC	0.532000													47	59					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560927	32560927	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:32560927C>T	ENST00000345122.3	+	2	1367	c.1052C>T	c.(1051-1053)cCa>cTa	p.P351L	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.P351L|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.P351L|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.P351L	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	351					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ACTCTTTTGCCAAATCTAGAA	0.313000													18	48					0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4388792	4388792	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:4388792G>A	ENST00000408920.2	-	1	824	c.734C>T	c.(733-735)tCc>tTc	p.S245F		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGACATGGGAGCCAAATGT	0.453000													21	31					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58978701	58978701	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:58978701G>A	ENST00000361050.3	-	1	1723	c.1638C>T	c.(1636-1638)tcC>tcT	p.S546S		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	546						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTAAATCTCTGGATATAGCAG	0.547000													11	52					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37157832	37157832	+	Silent	SNP	A	A	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:37157832A>G	ENST00000274258.7	-	40	8178	c.4591T>C	c.(4591-4593)Tta>Cta	p.L1531L	C5orf42_ENST00000425232.2_Silent_p.L2633L|C5orf42_ENST00000508244.1_Silent_p.L2633L			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2633										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATATAATGTAACTCTGCAGAC	0.338000													5	35					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98628987	98628987	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:98628987C>T	ENST00000261574.5	+	4	271	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	IPO5_ENST00000539640.1_Silent_p.L13L|IPO5_ENST00000490680.1_Silent_p.L13L	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	13	Importin N-terminal.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ACAGTTCTACCTGCTCCTGGG	0.697000													4	10					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228479769	228479769	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:228479769G>A	ENST00000570156.2	+	44	11871	c.11797G>A	c.(11797-11799)Gag>Aag	p.E3933K	OBSCN_ENST00000284548.11_Missense_Mutation_p.E3504K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E623K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E623K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E2351K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E3504K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2971	Ig-like 40.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACCAGGTGTGAGCTGCAGAT	0.622000													32	78					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48762114	48762114	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:48762114C>T	ENST00000285238.8	+	29	4238	c.4158C>T	c.(4156-4158)ccC>ccT	p.P1386P		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1386	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	ACCTGGACCCCTTCGGCAGCT	0.612000													19	38					0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31997559	31997559	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:31997559G>A	ENST00000435363.2	+	29	3977	c.3893G>A	c.(3892-3894)gGa>gAa	p.G1298E	C4B_ENST00000425700.2_Missense_Mutation_p.G1298E	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1298					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TTCCAAGGGGGATTCCGCAGT	0.652000													21	99					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834785	125834785	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:125834785G>A	ENST00000299308.3	+	2	848	c.840G>A	c.(838-840)gaG>gaA	p.E280E		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	280						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCTTGGACGAGAATGTGGTCA	0.562000													6	158					0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101775562	101775562	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:101775562C>T	ENST00000334289.3	-	5	1017	c.422G>A	c.(421-423)aGa>aAa	p.R141K		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	141	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CTGAACAGGTCTGTGAGGAAA	0.363000													8	37					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47680210	47680210	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:47680210C>T	ENST00000283303.2	+	5	676	c.418C>T	c.(418-420)Ccc>Tcc	p.P140S	GPR115_ENST00000371220.1_Missense_Mutation_p.P197S|GPR115_ENST00000327753.3_Missense_Mutation_p.P140S	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	140					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TAAGAACTGCCCCTTTGATTA	0.398000													13	93					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369281	20369281	+	RNA	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:20369281G>A	ENST00000593655.1	-	0	199																											GGCATAGTACGAAATTGGGAT	0.378000													5	78					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063268	9063268	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:9063268C>T	ENST00000397910.4	-	3	24381	c.24178G>A	c.(24178-24180)Gat>Aat	p.D8060N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8062	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCCCCACATCGGTCACTGTT	0.463000													27	59					0	0	1	0	0
TRAPPC13	80006	broad.mit.edu	37	5	64946640	64946640	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:64946640G>A	ENST00000399438.3	+	6	777	c.432G>A	c.(430-432)ttG>ttA	p.L144L	TRAPPC13_ENST00000438419.2_Silent_p.L144L|TRAPPC13_ENST00000231526.4_Silent_p.L144L|TRAPPC13_ENST00000545191.1_Silent_p.L144L|TRAPPC13_ENST00000505553.1_Silent_p.L144L	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2			trafficking protein particle complex 13																		GTTTCAGCTTGGTATGTGCTG	0.294000													8	15					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688754	26688754	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:26688754C>T	ENST00000529632.2	+	2	673	c.477C>T	c.(475-477)tcC>tcT	p.S159S	SEZ6L_ENST00000404234.3_Silent_p.S159S|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000343706.4_Silent_p.S159S|SEZ6L_ENST00000248933.6_Silent_p.S159S|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Silent_p.S159S	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	159						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCCTCTCCTCCTCCACGGAGA	0.672000													17	86					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769747	57769747	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:57769747C>T	ENST00000371030.2	+	1	3673	c.3673C>T	c.(3673-3675)Cct>Tct	p.P1225S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1225						intracellular	nucleic acid binding|zinc ion binding			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)					CAATGGCCCTCCTGGGAGCAA	0.632000													15	23					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116757505	116757505	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:116757505G>A	ENST00000331677.3	+	7	2318	c.1874G>A	c.(1873-1875)aGc>aAc	p.S625N	DSE_ENST00000452085.3_Missense_Mutation_p.S625N|DSE_ENST00000359564.2_Missense_Mutation_p.S625N|DSE_ENST00000537543.1_Missense_Mutation_p.S644N			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	625					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ACTGGCTACAGCGAGAAAGCA	0.493000													32	52					0	0	1	0	0
FGF11	2256	broad.mit.edu	37	17	7345135	7345135	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:7345135C>T	ENST00000293829.4	+	3	939	c.345C>T	c.(343-345)acC>acT	p.T115T	FGF11_ENST00000572907.1_5'UTR|FGF11_ENST00000575235.1_5'UTR|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575398.1_5'UTR|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575331.1_5'UTR|FGF11_ENST00000575082.1_5'UTR	NM_004112.2	NP_004103.1	Q92914	FGF11_HUMAN	fibroblast growth factor 11	115					cell-cell signaling|nervous system development|signal transduction		growth factor activity			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				GTGTGGTCACCATCCAGAGCG	0.592000													6	16					0	0	1	0	0
FKBP8	23770	broad.mit.edu	37	19	18652761	18652761	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:18652761G>A	ENST00000597960.2	-	2	140	c.20C>T	c.(19-21)cCc>cTc	p.P7L	FKBP8_ENST00000222308.3_Missense_Mutation_p.P7L|FKBP8_ENST00000453489.2_Missense_Mutation_p.P36L|FKBP8_ENST00000544835.2_Missense_Mutation_p.P7L|FKBP8_ENST00000596558.1_Missense_Mutation_p.P7L			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	7					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GGGCTCAGAGGGTTCAGCACA	0.627000													5	27					0	0	1	0	0
GZMH	2999	broad.mit.edu	37	14	25076889	25076889	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:25076889G>A	ENST00000216338.4	-	3	312	c.268C>T	c.(268-270)Cct>Tct	p.P90S	RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000382548.4_Missense_Mutation_p.P90S|GZMH_ENST00000557220.2_Intron	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	90	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		CTTTTCACAGGGATAAACTGC	0.532000													18	95					0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2594141	2594141	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:2594141G>A	ENST00000155840.5	+	6	954	c.846G>A	c.(844-846)ctG>ctA	p.L282L	KCNQ1_ENST00000335475.5_Silent_p.L155L	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	282					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TTGTGTACCTGGCTGAGAAGG	0.587000													18	24					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711644	155711644	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:155711644C>T	ENST00000295101.2	+	3	1802	c.1325C>T	c.(1324-1326)tCa>tTa	p.S442L		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	442					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CGAATAAGTTCAGTTCCGGGC	0.428000													14	70					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148927001	148927001	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:148927001A>G	ENST00000264613.6	-	4	1040	c.778T>C	c.(778-780)Tat>Cat	p.Y260H		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	260	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ATCTTACAATACATTCTGTTA	0.358000													24	47					0	0	1	0	0
GDE1	51573	broad.mit.edu	37	16	19514870	19514870	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:19514870T>G	ENST00000353258.3	-	6	1098	c.918A>C	c.(916-918)gaA>gaC	p.E306D		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	306	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						AGTAACTCTTTTCATCAAAGG	0.458000											OREG0023659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	57					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57173385	57173385	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:57173385G>A	ENST00000371244.4	+	9	1724	c.1658G>A	c.(1657-1659)tGa>tAa	p.*553*		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	0					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TTAGCCCGTTGATCTGTCTCT	0.363000													25	55					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31045476	31045476	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr21:31045476G>A	ENST00000399914.1	-	4	1074	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	GRIK1_ENST00000535441.1_Missense_Mutation_p.R185C|GRIK1_ENST00000399913.1_Missense_Mutation_p.R185C|GRIK1_ENST00000389125.3_Missense_Mutation_p.R185C|GRIK1_ENST00000399909.1_Missense_Mutation_p.R185C|GRIK1_ENST00000327783.4_Missense_Mutation_p.R185C|GRIK1_ENST00000389124.2_Missense_Mutation_p.R185C|GRIK1_ENST00000399907.1_Missense_Mutation_p.R185C|GRIK1_ENST00000309434.7_Missense_Mutation_p.R185C|GRIK1_ENST00000472429.1_5'UTR			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	185					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCTTGTAGACGAATTAGACCT	0.393000													9	26					0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770472	112770472	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:112770472G>A	ENST00000390666.3	-	1	256	c.65C>T	c.(64-66)tCc>tTc	p.S22F	CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	22	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TTTTGCATAGGAGCCCTCTCC	0.537000													9	24					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197080702	197080702	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:197080702C>T	ENST00000260983.2	-	28	4677		c.e28-1		HECW2_ENST00000409111.1_Splice_Site	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGTAACAAACTGTCAACCCA	0.507000													7	20					0	0	1	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26156731	26156731	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:26156731C>T	ENST00000304218.3	+	1	173	c.113C>T	c.(112-114)cCc>cTc	p.P38L		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	38	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GCGTCTGGGCCCCCGGTGTCC	0.662000													19	66					0	0	1	0	0
PANK2	80025	broad.mit.edu	37	20	3891386	3891386	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:3891386C>T	ENST00000497424.1	+	3	582	c.271C>T	c.(271-273)Ccg>Tcg	p.P91S	PANK2_ENST00000316562.4_Missense_Mutation_p.P382S|PANK2_ENST00000336066.3_3'UTR	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	382					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTTGAAAAATCCGTATCCTCT	0.408000													28	45					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168352422	168352422	+	Missense_Mutation	SNP	C	C	T	rs117682852	by1000genomes	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:168352422C>T	ENST00000366806.2	+	30	4509	c.4367C>T	c.(4366-4368)cCc>cTc	p.P1456L	MLLT4_ENST00000392108.3_Missense_Mutation_p.P1456L|MLLT4_ENST00000344191.4_Missense_Mutation_p.P1456L|MLLT4_ENST00000447894.2_Missense_Mutation_p.P1456L|MLLT4_ENST00000351017.4_Missense_Mutation_p.P1463L|MLLT4_ENST00000392112.1_Missense_Mutation_p.P1439L|MLLT4_ENST00000400822.3_Missense_Mutation_p.P1455L			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1456					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCGTTTTCTCCCCTGACTGCA	0.617000			T	MLL	AL								48	105					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76280818	76280818	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:76280818C>T	ENST00000263187.3	+	5	916	c.812C>T	c.(811-813)tCc>tTc	p.S271F		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	271					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GAGGTTCAGTCCAAGTAAGtt	0.313000								Mismatch excision repair (MMR)					23	35					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676141	11676141	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:11676141C>T	ENST00000423059.3	-	2	889	c.638G>A	c.(637-639)gGg>gAg	p.G213E		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	213	TSP type-1 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTGCTGGAGCCCGCTGCCGCA	0.607000										HNSCC(18;0.044)			16	24					0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891697	6891697	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:6891697T>A	ENST00000307322.4	+	1	774	c.712T>A	c.(712-714)Ttc>Atc	p.F238I		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGTCTCTCTTTTCTATATATC	0.423000													27	109					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40354296	40354296	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:40354296C>T	ENST00000221347.6	-	35	16180	c.16173G>A	c.(16171-16173)gcG>gcA	p.A5391A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5391	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATTTCTCCATCGCTGGCTTCT	0.542000													8	36					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88259733	88259733	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:88259733C>T	ENST00000298767.5	-	3	1739	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	423	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						AGTTTAACATCCTTTTTGGAT	0.353000													11	17					0	0	1	0	0
OR2A1	346528	broad.mit.edu	37	7	144015523	144015523	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:144015523C>T	ENST00000408951.1	+	1	306	c.306C>T	c.(304-306)ctC>ctT	p.L102L	RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000475089.1_RNA|RP4-798C17.6_ENST00000467944.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000488041.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000493539.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000486094.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000496968.1_RNA	NM_001005287.1	NP_001005287.1	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					AGACCTTTCTCTGTTTGAGTT	0.562000													15	307					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20432314	20432314	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:20432314C>T	ENST00000377252.3	+	5	1473	c.632C>T	c.(631-633)tCc>tTc	p.S211F	PLXDC2_ENST00000377242.3_Missense_Mutation_p.S162F|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	211						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CCCAGTGTATCCAGAAATTCA	0.358000													23	33					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142651410	142651410	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:142651410C>T	ENST00000355265.2	-	8	1259	c.785G>A	c.(784-786)gGa>gAa	p.G262E	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	262					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGGTCTCCTCCCAGCAAGGT	0.547000													28	56					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50530596	50530596	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:50530596G>A	ENST00000374144.3	+	3	294	c.6G>A	c.(4-6)atG>atA	p.M2I	C10orf71_ENST00000323868.4_Missense_Mutation_p.M2I			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	2										endometrium(1)	1						AACAGATGATGCAAGGAAATA	0.532000													6	8					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38117330	38117330	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:38117330G>A	ENST00000261439.4	+	16	2912		c.e16-1		TBC1D1_ENST00000508802.1_Splice_Site|TBC1D1_ENST00000407365.1_Splice_Site	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCTTTTCACAGGGCGAACCTT	0.388000													10	25					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238234251	238234251	+	Missense_Mutation	SNP	C	C	T	rs138694883		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:238234251C>T	ENST00000295550.4	-	43	9897	c.9445G>A	c.(9445-9447)Gaa>Aaa	p.E3149K	COL6A3_ENST00000473258.1_5'UTR|COL6A3_ENST00000472056.1_Missense_Mutation_p.E2542K|COL6A3_ENST00000347401.3_Missense_Mutation_p.E2948K|COL6A3_ENST00000353578.4_Missense_Mutation_p.E2943K|COL6A3_ENST00000346358.4_Missense_Mutation_p.E2949K|COL6A3_ENST00000409809.1_Missense_Mutation_p.E2943K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3149	BPTI/Kunitz inhibitor.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AATTTGTTTTCGTTTCCACCA	0.398000													56	78					0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	136031416	136031416	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:136031416G>A	ENST00000542690.1	-	4	491	c.211C>T	c.(211-213)Cca>Tca	p.P71S	GBGT1_ENST00000540636.1_Intron|GBGT1_ENST00000372040.3_Silent_p.L58L|GBGT1_ENST00000372043.3_Silent_p.L58L|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372038.3_Missense_Mutation_p.P71S			Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	0					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CCACGGGCTGGAGTGGCTTCT	0.552000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								14	35					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45868120	45868120	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:45868120G>A	ENST00000391945.4	-	7	647	c.570C>T	c.(568-570)tgC>tgT	p.C190C	ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391944.3_Intron|ERCC2_ENST00000391940.4_Silent_p.C166C|ERCC2_ENST00000485403.2_Silent_p.C166C	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	190	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGAAGTATGGGCACCAGCCCT	0.652000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	16					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70925841	70925841	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:70925841G>A	ENST00000334414.6	-	32	6522	c.6478C>T	c.(6478-6480)Cac>Tac	p.H2160Y	RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.H1852Y|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.H1852Y|PTPRB_ENST00000451516.2_Missense_Mutation_p.H1852Y|PTPRB_ENST00000261266.5_Missense_Mutation_p.H1942Y|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000550358.1_Missense_Mutation_p.H2072Y|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1942					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAACCCTGTGAAGTCTTAGG	0.478000													6	36					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127323764	127323764	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:127323764C>T	ENST00000265056.7	+	4	682	c.438C>T	c.(436-438)cgC>cgT	p.R146R		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	146	Interaction with MYST2 (By similarity).				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	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						ACGAGGAGCGCCCTGCCCGCA	0.652000													6	18					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766120	77766120	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:77766120C>T	ENST00000521891.2	+	10	7411	c.6963C>T	c.(6961-6963)ttC>ttT	p.F2321F	ZFHX4_ENST00000455469.2_Silent_p.F2276F|ZFHX4_ENST00000050961.6_Silent_p.F2276F|ZFHX4_ENST00000518282.1_Silent_p.F2295F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGTGGTTTTCCCCAGGATCT	0.393000										HNSCC(33;0.089)			30	53					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438016	204438016	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:204438016G>A	ENST00000367187.3	-	3	1471	c.915C>T	c.(913-915)cgC>cgT	p.R305R	PIK3C2B_ENST00000424712.2_Silent_p.R305R	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	305					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CAGAAATCCGGCGGTTCTTGC	0.577000													20	42					0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60932705	60932705	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:60932705C>T	ENST00000321731.3	-	11	1123	c.964G>A	c.(964-966)Gat>Aat	p.D322N		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	322										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ACCTGTGTATCATTTTCTTTT	0.313000													5	14					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77425737	77425737	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:77425737C>T	ENST00000451710.3	-	13	1728	c.1491G>A	c.(1489-1491)gtG>gtA	p.V497V	TRPM6_ENST00000376871.3_Silent_p.V497V|TRPM6_ENST00000376872.3_Silent_p.V497V|TRPM6_ENST00000360774.1_Silent_p.V497V|TRPM6_ENST00000376864.4_Silent_p.V497V|TRPM6_ENST00000449912.2_Silent_p.V492V|TRPM6_ENST00000361255.3_Silent_p.V492V			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	497					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTACCTGTTTCACATCTTGGA	0.368000													13	17					0	0	1	0	0
TTLL13P	440307	broad.mit.edu	37	15	90794788	90794788	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:90794788C>T	ENST00000561573.1	+	3	524	c.260C>T	c.(259-261)tCa>tTa	p.S87L	TTLL13_ENST00000438251.1_Missense_Mutation_p.S87L|TTLL13_ENST00000339615.5_Missense_Mutation_p.S87L																							CATTCCAGATCACTGGCCATC	0.478000													96	268					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188242550	188242550	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:188242550C>A	ENST00000312675.4	+	5	650	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	LPP_ENST00000448637.1_Missense_Mutation_p.S135Y|LPP_ENST00000543006.1_Missense_Mutation_p.S135Y	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	135	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GAGTGCAGCTCCCCCTATAAG	0.547000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								14	90					1.5739e-10	1.60486e-10	1	1	0
OR52R1	119695	broad.mit.edu	37	11	4824843	4824843	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:4824843G>A	ENST00000380382.1	-	1	1004	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Silent_p.I256I|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGGGCTGGGATATAAAGAG	0.483000													5	113					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21965074	21965074	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:21965074C>T	ENST00000261200.4	-	34	4119	c.4120G>A	c.(4120-4122)Ggg>Agg	p.G1374R	ABCC9_ENST00000345162.2_Missense_Mutation_p.G1338R|ABCC9_ENST00000261201.4_Missense_Mutation_p.G1374R	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1374	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATGTCTATCCCATCAATGACA	0.328000													18	44					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140386854	140386854	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:140386854A>T	ENST00000072869.4	+	5	1548	c.1370A>T	c.(1369-1371)aAc>aTc	p.N457I	ADCK2_ENST00000476491.1_Missense_Mutation_p.N457I	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	457	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CAGGGTGCCAACGGCCTGTCC	0.577000													39	42					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092434	30092434	+	RNA	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:30092434C>T	ENST00000567636.1	+	0	809					NR_003558.1																						TCCACCCCCTCCTCAAGTCGT	0.537000													21	76					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136681016	136681016	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:136681016C>T	ENST00000354570.3	-	15	2265		c.e15-1		MAP7_ENST00000432797.2_Splice_Site|MAP7_ENST00000454590.1_Splice_Site|MAP7_ENST00000544465.1_Splice_Site|MAP7_ENST00000438100.2_Splice_Site	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7						establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CACTGGTTTTCTACGAAGAAG	0.333000													36	86					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203420956	203420956	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:203420956C>T	ENST00000374580.4	+	12	3107	c.2568C>T	c.(2566-2568)acC>acT	p.T856T	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	856					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GTGAGGACACCCGGCTGAATA	0.468000													20	98					0	0	1	0	0
LSP1	4046	broad.mit.edu	37	11	1904749	1904749	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:1904749G>A	ENST00000406638.2	+	4	1573	c.271G>A	c.(271-273)Gac>Aac	p.D91N	LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000405957.2_Missense_Mutation_p.D91N|LSP1_ENST00000311604.3_Missense_Mutation_p.D153N|LSP1_ENST00000381775.1_Missense_Mutation_p.D281N	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	153					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		CACTGTCCAGGACAACCTGGG	0.632000													5	24					0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39874463	39874463	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:39874463G>A	ENST00000308559.7	-	10	1666	c.1533C>T	c.(1531-1533)ctC>ctT	p.L511L	MOCS1_ENST00000373195.3_Silent_p.L424L|MOCS1_ENST00000425303.2_Silent_p.L527L|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000340692.5_Silent_p.L527L|MOCS1_ENST00000373186.4_3'UTR			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	527	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTCCTTTCTTGAGCTGGTTCT	0.627000													21	57					0	0	1	0	0
IL10RA	3587	broad.mit.edu	37	11	117869813	117869813	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:117869813G>T	ENST00000227752.3	+	7	1314	c.1194G>T	c.(1192-1194)caG>caT	p.Q398H	IL10RA_ENST00000545409.1_Missense_Mutation_p.Q249H|IL10RA_ENST00000541785.1_Missense_Mutation_p.Q378H|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	398						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GCAGGGGCCAGGATGACAGTG	0.652000													10	31					7.48243e-07	7.56833e-07	1	1	0
ORC6	23594	broad.mit.edu	37	16	46729582	46729582	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:46729582C>T	ENST00000566860.1	+	4	698	c.411C>T	c.(409-411)gtC>gtT	p.V137V	ORC6_ENST00000219097.2_Silent_p.V186V|ORC6_ENST00000568364.2_Intron|ORC6_ENST00000575571.1_3'UTR			Q9Y5N6	ORC6_HUMAN	origin recognition complex, subunit 6	186					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						GACAGCAGGTCGACAGTAAGT	0.358000													7	25					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124351912	124351912	+	Silent	SNP	C	C	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:124351912C>A	ENST00000368909.3	+	20	2407	c.2301C>A	c.(2299-2301)gcC>gcA	p.A767A	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Silent_p.A757A|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Silent_p.A757A|DMBT1_ENST00000338354.3_Silent_p.A767A	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	767	SRCR 6.				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			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)				CCAATGATGCCAATGTGGTCT	0.607000													8	285					1.06961e-07	1.08438e-07	1	1	0
NPHS1	4868	broad.mit.edu	37	19	36341986	36341986	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:36341986G>A	ENST00000378910.5	-	4	402	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	NPHS1_ENST00000353632.6_Missense_Mutation_p.P135S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	135					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCAGCTTGGGAGGAACTGGT	0.602000													13	38					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960522	73960522	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:73960522G>A	ENST00000373468.1	-	3	4521	c.3870C>T	c.(3868-3870)agC>agT	p.S1290S	KIAA2022_ENST00000055682.5_Silent_p.S1290S			Q5QGS0	K2022_HUMAN	KIAA2022	1290					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCCAGCCTGGGCTGCTCTCCT	0.507000													24	5					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48632937	48632937	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:48632937C>T	ENST00000006658.6	+	17	2443	c.2323C>T	c.(2323-2325)Cag>Tag	p.Q775*	SPATA20_ENST00000356488.4_Nonsense_Mutation_p.Q759*|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Nonsense_Mutation_p.Q715*	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	759					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GTTGGAAGACCAGGCCACTGC	0.572000													23	41					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113147112	113147112	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:113147112G>A	ENST00000302558.3	-	20	3601	c.3410C>T	c.(3409-3411)tCt>tTt	p.S1137F	RGPD8_ENST00000409750.1_Missense_Mutation_p.S997F	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						ATCACCATCAGAGAAATCACT	0.453000													37	268					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885559	29885559	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:29885559G>A	ENST00000310624.6	+	4	1963	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	644	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCCAACGAAGGAGGAAGCAAA	0.562000													18	24					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307144	162307144	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:162307144G>A	ENST00000306100.5	-	16	2735	c.2299C>T	c.(2299-2301)Ctc>Ttc	p.L767F	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.L766F|FSTL5_ENST00000427802.2_Missense_Mutation_p.L757F|FSTL5_ENST00000536695.1_Missense_Mutation_p.L766F	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	767						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCCACAAAGAGCACATCAGTT	0.433000													29	46					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20868116	20868116	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:20868116C>T	ENST00000381552.1	+	6	941	c.573C>T	c.(571-573)ttC>ttT	p.F191F	SLCO1C1_ENST00000545604.1_Silent_p.F191F|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000266509.2_Silent_p.F191F|SLCO1C1_ENST00000545102.1_Silent_p.F73F			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	191					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TTTATGTTTTCCTGGGCAATC	0.398000													4	125					0	0	1	0	0
MRPL1	65008	broad.mit.edu	37	4	78873669	78873669	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:78873669C>T	ENST00000315567.8	+	9	1215	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	296							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TGCTTTCCTTCGTAGTTCAAC	0.363000													10	33					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100266210	100266210	+	RNA	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:100266210C>T	ENST00000510055.1	-	0	550				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTGGTGCCATCCTGCAGGGTC	0.552000													19	37					0	0	1	0	0
APOC3	345	broad.mit.edu	37	11	116701291	116701291	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:116701291G>A	ENST00000375345.1	+	2	109	c.47G>A	c.(46-48)aGa>aAa	p.R16K	APOC3_ENST00000470144.1_3'UTR|APOC3_ENST00000227667.3_5'UTR			P02656	APOC3_HUMAN	apolipoprotein C-III	0					Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding			endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TGCAGGAACAGAGGTGCCATG	0.657000													9	28					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122643372	122643372	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:122643372C>T	ENST00000263461.6	+	14	2066	c.1820C>T	c.(1819-1821)tCc>tTc	p.S607F	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	607						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AGAGAGATGTCCAAAAACTTC	0.338000													4	22					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3224759	3224759	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:3224759C>T	ENST00000602557.1	-	21	3468	c.2913G>A	c.(2911-2913)atG>atA	p.M971I	CSMD1_ENST00000602723.1_Missense_Mutation_p.M971I|CSMD1_ENST00000400186.3_Missense_Mutation_p.M971I|CSMD1_ENST00000542608.1_Missense_Mutation_p.M970I|CSMD1_ENST00000539096.1_Missense_Mutation_p.M970I|CSMD1_ENST00000537824.1_Missense_Mutation_p.M970I|CSMD1_ENST00000520002.1_Missense_Mutation_p.M971I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	971	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTGAAAGATCATTTGAACTC	0.557000													5	10					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37898819	37898819	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:37898819G>A	ENST00000309156.4	+	3	413	c.155_splice	c.e3-1	p.R52_splice	GRB7_ENST00000445327.2_Splice_Site_p.R75_splice|GRB7_ENST00000309185.3_Splice_Site_p.R52_splice|GRB7_ENST00000394209.2_Splice_Site_p.R52_splice|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394204.1_Splice_Site_p.R52_splice|GRB7_ENST00000394211.3_Splice_Site_p.R52_splice	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	52					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTTGCCACAGGAAACTTCGAG	0.607000													23	95					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131666171	131666171	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:131666171G>A	ENST00000368648.3	-	9	832	c.760C>T	c.(760-762)Ccg>Tcg	p.P254S	EBF3_ENST00000355311.5_Missense_Mutation_p.P263S	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	263					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TTGATGCACGGAGTGGCTGCT	0.632000													13	44					0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8010816	8010816	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:8010816C>T	ENST00000318888.4	-	14	1411	c.540G>A	c.(538-540)tcG>tcA	p.S180S	ABLIM2_ENST00000505872.1_Silent_p.S394S|ABLIM2_ENST00000428004.2_Silent_p.S405S|ABLIM2_ENST00000341937.5_Silent_p.S446S|ABLIM2_ENST00000361737.5_Silent_p.S405S|ABLIM2_ENST00000407564.3_Silent_p.S394S|ABLIM2_ENST00000546334.1_Silent_p.S405S|ABLIM2_ENST00000361581.5_Silent_p.S446S|ABLIM2_ENST00000447017.2_Silent_p.S479S|ABLIM2_ENST00000296372.8_Silent_p.S446S|ABLIM2_ENST00000514025.1_Silent_p.S180S|ABLIM2_ENST00000545242.1_Silent_p.S446S			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	446	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CCTCCCCATCCGATCGCCTGG	0.493000													39	59					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159560442	159560442	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:159560442C>T	ENST00000307765.5	+	14	1325	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	RXFP1_ENST00000460056.2_Silent_p.I277I|RXFP1_ENST00000448688.2_Silent_p.I253I|RXFP1_ENST00000343542.5_Silent_p.I310I|RXFP1_ENST00000470033.1_Silent_p.I325I	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	358						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TTTCAAATATCCAACAAAGGA	0.274000													6	20					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34077940	34077940	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:34077940G>A	ENST00000389232.4	+	66	9416	c.9346G>A	c.(9346-9348)Gac>Aac	p.D3116N	RYR3_ENST00000415757.3_Missense_Mutation_p.D3116N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3116					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAAATCAACGACCTGGCCGA	0.552000													27	44					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707272	96707272	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:96707272G>A	ENST00000542454.2	+	3	3614	c.526G>A	c.(526-528)Gat>Aat	p.D176N	BDKRB2_ENST00000554311.1_Missense_Mutation_p.D203N|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Missense_Mutation_p.D203N|BDKRB2_ENST00000539359.1_Missense_Mutation_p.D176N			P30411	BKRB2_HUMAN	bradykinin receptor B2	203					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GGAGTACAGCGATGAGGGCCA	0.592000													12	50					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004086	75004086	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:75004086C>T	ENST00000373359.2	-	1	993	c.801G>A	c.(799-801)ctG>ctA	p.L267L		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	267	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACACAAACTTCAGGGCTTCCA	0.488000													26	10					0	0	1	0	0
MGRN1	23295	broad.mit.edu	37	16	4731692	4731692	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:4731692C>T	ENST00000399577.5	+	13	1366	c.1273C>T	c.(1273-1275)Cag>Tag	p.Q425*	MGRN1_ENST00000262370.7_Nonsense_Mutation_p.Q425*|MGRN1_ENST00000586183.1_Nonsense_Mutation_p.Q403*|MGRN1_ENST00000415496.1_Nonsense_Mutation_p.Q404*|MGRN1_ENST00000588994.1_Nonsense_Mutation_p.Q403*	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	425					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CGGCCTGTCCCAGGCCAGCTG	0.667000													17	78					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1443231	1443231	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:1443231C>A	ENST00000270349.9	-	2	209	c.82G>T	c.(82-84)Gag>Tag	p.E28*	SLC6A3_ENST00000453492.2_Nonsense_Mutation_p.E28*	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	28					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGCTCCACCTCCTTCGGGCCC	0.632000													15	41					2.32078e-09	2.36371e-09	1	1	0
MAPRE3	22924	broad.mit.edu	37	2	27245162	27245162	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:27245162G>A	ENST00000233121.2	+	2	274	c.76G>A	c.(76-78)Gac>Aac	p.D26N	MAPRE3_ENST00000405074.3_Missense_Mutation_p.D26N|MAPRE3_ENST00000402218.1_Missense_Mutation_p.D26N|MAPRE3_ENST00000491354.1_3'UTR			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	26	CH.				cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGGTCAACGACTCCCTGCA	0.488000													28	74					0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125289062	125289062	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:125289062C>T	ENST00000304880.2	-	1	510	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGAGCAATTTCCCCAGTCACA	0.502000													8	20					0	0	1	0	0
LINC00639	283547	broad.mit.edu	37	14	39304943	39304943	+	RNA	SNP	G	G	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:39304943G>T	ENST00000553932.1	-	0	3619																											TCAAGTGTTAGCAGTGAGGGA	0.527000													3	13					0.115264	0.115395	1	1	0
SOHLH2	54937	broad.mit.edu	37	13	36764118	36764118	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:36764118G>A	ENST00000379881.3	-	6	694	c.606C>T	c.(604-606)atC>atT	p.I202I	SOHLH2_ENST00000317764.6_Silent_p.I202I|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.I279I|SOHLH2_ENST00000554962.1_Silent_p.I279I	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2									p.I202I(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GAAGAAGAGAGATCTTTTTGT	0.313000													16	35					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153026682	153026682	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:153026682C>T	ENST00000285900.5	+	3	758	c.415C>T	c.(415-417)Cat>Tat	p.H139Y	GRIA1_ENST00000518783.1_Missense_Mutation_p.H149Y|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000448073.4_Missense_Mutation_p.H149Y|GRIA1_ENST00000521843.2_Missense_Mutation_p.H70Y|GRIA1_ENST00000340592.5_Missense_Mutation_p.H139Y|GRIA1_ENST00000518142.1_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	139					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATCATTGACCATTACAAGTG	0.493000													31	27					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130833124	130833124	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:130833124C>T	ENST00000357462.5	-	15	2014	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K	POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000409914.2_Missense_Mutation_p.E641K|POTEF_ENST00000360967.5_3'UTR			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	641						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ATGTCTTTTTCTTTCTTACAA	0.338000													7	24					0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36435631	36435631	+	Missense_Mutation	SNP	C	C	T	rs115982229	byFrequency	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:36435631C>T	ENST00000588831.1	+	4	2651	c.1597C>T	c.(1597-1599)Ccc>Tcc	p.P533S	LRFN3_ENST00000246529.3_Missense_Mutation_p.P533S			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	533					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCGCACGCTCCCTTCCTGGG	0.682000													10	16					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106155754	106155754	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:106155754G>A	ENST00000513237.1	+	3	1515	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	TET2_ENST00000305737.2_Missense_Mutation_p.E219K|TET2_ENST00000380013.4_Missense_Mutation_p.E219K|TET2_ENST00000394764.1_Missense_Mutation_p.E219K|TET2_ENST00000413648.2_Missense_Mutation_p.E219K|TET2_ENST00000545826.1_Missense_Mutation_p.E219K|TET2_ENST00000540549.1_Missense_Mutation_p.E219K			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	219					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CTCTTCCGTGGAACACACACA	0.413000			"""Mis N, F"""		MDS								13	53					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656046	46656046	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:46656046G>A	ENST00000253255.5	-	1	3173	c.3174C>T	c.(3172-3174)ctC>ctT	p.L1058L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1058					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGGACACAGGGAGGCAGACTA	0.557000													8	14					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310107	56310107	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:56310107G>A	ENST00000528616.2	-	1	650	c.627C>T	c.(625-627)tcC>tcT	p.S209S		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CGATGGTGAGGGAGCTGGAGA	0.507000													16	21					0	0	1	0	0
WDR82	80335	broad.mit.edu	37	3	52292614	52292614	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:52292614G>A	ENST00000296490.3	-	8	1131	c.850C>T	c.(850-852)Ccg>Tcg	p.P284S		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	284					histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		CAGGTAATCGGGCCTGTGTGT	0.463000													41	87					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31809607	31809607	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:31809607C>T	ENST00000446923.2	+	7	1687	c.1296C>T	c.(1294-1296)ccC>ccT	p.P432P	ZEB1_ENST00000542815.3_Silent_p.P381P|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Silent_p.P449P|ZEB1_ENST00000560721.2_Silent_p.P428P|ZEB1_ENST00000320985.10_Silent_p.P448P	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	448					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATGCTTCACCCATACAACAAG	0.393000													11	14					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64507231	64507231	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:64507231G>A	ENST00000377494.1	-	6	1495	c.573C>T	c.(571-573)ccC>ccT	p.P191P	RASGRP2_ENST00000354024.3_Silent_p.P191P|RASGRP2_ENST00000377497.3_Silent_p.P191P|RASGRP2_ENST00000394432.3_Silent_p.P191P			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	191	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTCCAGGACGGGGTTGTCCA	0.597000													29	42					0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124802773	124802773	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:124802773G>A	ENST00000423114.2	-	14	2192	c.2193C>T	c.(2191-2193)tcC>tcT	p.S731S	SLC12A8_ENST00000314584.7_Silent_p.S363S|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000430155.2_Silent_p.S503S|SLC12A8_ENST00000393469.4_Silent_p.S702S|SLC12A8_ENST00000469902.1_Silent_p.S702S			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	702					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TCACGAGGGAGGAGTGGTGGT	0.572000													6	18					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71577257	71577257	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:71577257C>T	ENST00000409544.1	+	2	1803	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	ZNF638_ENST00000377802.2_Silent_p.S391S|ZNF638_ENST00000264447.4_Silent_p.S391S|ZNF638_ENST00000355812.3_Silent_p.S391S|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	391					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGAAAGCATCCTGGCTACCAA	0.403000													45	71					0	0	1	0	0
HEYL	26508	broad.mit.edu	37	1	40092586	40092586	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:40092586C>G	ENST00000372852.3	-	5	899	c.580G>C	c.(580-582)Gcc>Ccc	p.A194P	HEYL_ENST00000535435.1_Missense_Mutation_p.A166P	NM_014571.3	NP_055386.1	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	194	Pro-rich.				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCCAGGATGGCGAGCTGGTTG	0.667000													3	20					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136709565	136709565	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:136709565G>A	ENST00000354570.3	-	5	902	c.492C>T	c.(490-492)ggC>ggT	p.G164G	MAP7_ENST00000432797.2_Silent_p.G18G|MAP7_ENST00000454590.1_Silent_p.G186G|MAP7_ENST00000544465.1_Silent_p.G149G|MAP7_ENST00000438100.2_Silent_p.G186G	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	164					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CATGGAGAGAGCCTCCCCACG	0.473000													65	131					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4725386	4725386	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:4725386C>T	ENST00000354582.6	+	28	3752	c.3402C>T	c.(3400-3402)tcC>tcT	p.S1134S	ITPR1_ENST00000357086.4_Silent_p.S1125S|ITPR1_ENST00000302640.8_Silent_p.S1119S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Silent_p.S1119S|ITPR1_ENST00000456211.2_Silent_p.S1110S|ITPR1_ENST00000423119.2_Silent_p.S1125S			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1134					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AACTGAGGTCCATCGTGGAAA	0.468000													19	89					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542972	14542972	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:14542972C>T	ENST00000358970.5	-	1	173	c.174G>A	c.(172-174)agG>agA	p.R58R	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	58										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCATCTTGCTCCTGAGCATCT	0.577000													46	418					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50112638	50112638	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:50112638C>T	ENST00000443081.1	+	20	3644	c.2725C>T	c.(2725-2727)Cgt>Tgt	p.R909C	RBM6_ENST00000422955.1_Missense_Mutation_p.R519C|RBM6_ENST00000421682.1_Missense_Mutation_p.R37C|RBM6_ENST00000539992.1_Missense_Mutation_p.R383C|RBM6_ENST00000442092.1_Missense_Mutation_p.R519C|RBM6_ENST00000266022.4_Missense_Mutation_p.R1041C			P78332	RBM6_HUMAN	RNA binding motif protein 6	1041					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TTGCAGTGATCGTAAACTTGT	0.468000													9	29					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159493904	159493904	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:159493904G>A	ENST00000307765.5	+	2	355	c.104G>A	c.(103-105)gGg>gAg	p.G35E	RXFP1_ENST00000423548.1_Missense_Mutation_p.G35E|RXFP1_ENST00000460056.2_5'UTR|RXFP1_ENST00000448688.2_5'UTR|RXFP1_ENST00000343542.5_Missense_Mutation_p.G35E|RXFP1_ENST00000470033.1_Missense_Mutation_p.G35E	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	35	LDL-receptor class A.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TTCCCCTGTGGGAACATCACA	0.527000													26	55					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197122612	197122612	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:197122612G>A	ENST00000260983.2	-	18	3536	c.3354C>T	c.(3352-3354)atC>atT	p.I1118I	HECW2_ENST00000409111.1_Silent_p.I762I	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1118					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTTCAGTTCGGATAAATTGGA	0.398000													17	26					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247719744	247719744	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:247719744G>A	ENST00000366488.4	+	2	169	c.65G>A	c.(64-66)gGa>gAa	p.G22E	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_5'UTR|GCSAML_ENST00000536561.1_Intron|GCSAML_ENST00000463359.1_5'UTR	NM_145278.3	NP_660321.1			germinal center-associated, signaling and motility-like																		CCCAAGAAAGGAAACCCAGAT	0.368000													8	13					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152818	151152818	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:151152818C>T	ENST00000367328.1	+	16	2883	c.2571C>T	c.(2569-2571)ctC>ctT	p.L857L	PLEKHG1_ENST00000358517.2_Silent_p.L857L	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	857					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAGACCGTCTCCTGGCAGCGT	0.522000													13	43					0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450255	158450255	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:158450255T>A	ENST00000368152.1	+	1	588	c.588T>A	c.(586-588)caT>caA	p.H196Q	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AAGTCAATCATTACTTCTGTG	0.418000													6	164					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433833	73433833	+	Silent	SNP	G	G	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:73433833G>C	ENST00000263666.4	-	10	1998	c.1884C>G	c.(1882-1884)gcC>gcG	p.A628A	PDZRN3_ENST00000535920.1_Silent_p.A350A|PDZRN3_ENST00000466780.1_Silent_p.A285A|PDZRN3_ENST00000479530.1_Silent_p.A345A|PDZRN3_ENST00000462146.2_Silent_p.A285A	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	628							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCGTGCAGTCGGCCGAAATGA	0.657000													11	137					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103234250	103234250	+	Missense_Mutation	SNP	C	C	T	rs62644499		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:103234250C>T	ENST00000553106.1	-	12	1715	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N	PAH_ENST00000307000.2_Missense_Mutation_p.D410N	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	415			D -> N (in non-PKU HPA; haplotype 1).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GTGTATGGGTCGTAGCGAACT	0.463000													16	63					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28966657	28966657	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:28966657G>A	ENST00000359747.4	+	3	120	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.E31K|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	31					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAAGGTGAAGGAATTTGACAT	0.383000													7	61					0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57177497	57177497	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:57177497G>A	ENST00000395123.2	-	12	1462	c.1158C>T	c.(1156-1158)ccC>ccT	p.P386P	SLC43A3_ENST00000395124.1_Silent_p.P386P|SLC43A3_ENST00000533524.1_Silent_p.P399P|SLC43A3_ENST00000529554.1_Silent_p.P386P|RP11-872D17.8_ENST00000529411.1_Silent_p.P30P|SLC43A3_ENST00000352187.1_Silent_p.P386P	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	386					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GAGGGAGGATGGGGACTGAGG	0.627000													9	11					0	0	1	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094843	139094843	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:139094843G>A	ENST00000332797.6	+	1	187	c.32G>A	c.(31-33)gGg>gAg	p.G11E		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	11										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GCGACACTGGGGGAGCAGGAA	0.602000													49	133					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													4	31					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46230641	46230641	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:46230641C>T	ENST00000334344.6	+	8	1062	c.890C>T	c.(889-891)tCc>tTc	p.S297F	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.S148F	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	297					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGAAATCTTTCCTTTGAGGAG	0.398000			"""N, S, F"""		hepatocellular carcinoma								16	55					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37291415	37291415	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:37291415C>T	ENST00000373091.3	-	11	1559	c.1543G>A	c.(1543-1545)Gcc>Acc	p.A515T	GRIK3_ENST00000373093.4_Missense_Mutation_p.A515T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	515					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGGGCCACGGCCAGATCTGCC	0.527000													23	31					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20792848	20792848	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:20792848G>A	ENST00000359062.3	+	10	2248	c.2208G>A	c.(2206-2208)atG>atA	p.M736I	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	736	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGGAATTTATGAATTATTTTC	0.313000													10	18					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	22078774	22078774	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:22078774C>T	ENST00000382254.1	-	5	1098	c.12G>A	c.(10-12)agG>agA	p.R4R	CDH12_ENST00000504376.2_Silent_p.R4R|CDH12_ENST00000522262.1_Silent_p.R4R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	4					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATAAACAGTTCCTTGTAAGCA	0.463000										HNSCC(59;0.17)			10	84					0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149829872	149829872	+	Silent	SNP	A	A	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:149829872A>G	ENST00000435030.1	+	12	1508	c.1140A>G	c.(1138-1140)gaA>gaG	p.E380E	KIF5C_ENST00000414838.2_Silent_p.E285E|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Silent_p.E148E			O60282	KIF5C_HUMAN	kinesin family member 5C	380	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTGAGGATGAACAGATCAGTG	0.463000													15	20					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34094912	34094912	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:34094912C>T	ENST00000297161.2	+	10	1298	c.924C>T	c.(922-924)ttC>ttT	p.F308F	BMPER_ENST00000426693.1_Silent_p.F308F	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	308	VWFC 5.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACAAGATTTTCCAGGTATGTC	0.468000													10	59					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81056323	81056323	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:81056323C>T	ENST00000334512.5	+	13	1898	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	442	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACTCACCTCCCCCAACTACC	0.637000													19	89					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147027	26147027	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:26147027A>C	ENST00000331351.5	+	2	1221	c.829A>C	c.(829-831)Atg>Ctg	p.M277L	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	277					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CATTCACTCCATGGCCAAGGA	0.498000													36	58					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156643314	156643314	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:156643314G>A	ENST00000296518.7	+	9	2050	c.1841G>A	c.(1840-1842)cGa>cAa	p.R614Q	GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R356Q|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R614Q			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	614					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGTGTACCACGAAAAATCAAT	0.378000													18	69					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837781	93837781	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:93837781G>A	ENST00000315765.9	+	16	2778	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	924	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CGTTGATTATGAATTTGCTCT	0.363000													18	31					0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108475939	108475939	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:108475939C>T	ENST00000295755.6	-	1	292	c.94G>A	c.(94-96)Gat>Aat	p.D32N		NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	32					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						ATCTTCTTATCCATAACGGAG	0.512000													9	20					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47602344	47602344	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:47602344C>T	ENST00000273857.4	-	21	2832	c.2833G>A	c.(2833-2835)Gga>Aga	p.G945R	CORIN_ENST00000502252.1_Missense_Mutation_p.G878R|CORIN_ENST00000508498.1_Missense_Mutation_p.G806R|CORIN_ENST00000505909.1_Missense_Mutation_p.G908R	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	945	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CGGACCTCTCCCTCTTGCAGC	0.393000													15	24					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221954	55221954	+	RNA	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:55221954G>A	ENST00000413439.1	+	0	1481																											AGGAGAGAACGTGACCCTGCT	0.632000													12	49					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592961	38592961	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:38592961G>A	ENST00000413689.1	-	28	5095	c.4902C>T	c.(4900-4902)ctC>ctT	p.L1634L	SCN5A_ENST00000425664.1_Silent_p.L1616L|SCN5A_ENST00000423572.2_Silent_p.L1633L|SCN5A_ENST00000455624.2_Silent_p.L1601L|SCN5A_ENST00000443581.1_Silent_p.L1633L|SCN5A_ENST00000449557.2_Silent_p.L1580L|SCN5A_ENST00000414099.2_Silent_p.L1616L|SCN5A_ENST00000450102.2_Silent_p.L1580L|SCN5A_ENST00000333535.4_Silent_p.L1634L|SCN5A_ENST00000451551.2_Silent_p.L1580L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1634					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGATCAGTCTGAGGATGCGGC	0.597000													29	61					0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6759677	6759677	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:6759677G>A	ENST00000378827.4	+	3	2351	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	378					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	TGACGAGAATGAAAAGGTTGT	0.383000													15	31					0	0	1	0	0
MEST	4232	broad.mit.edu	37	7	130135278	130135278	+	Silent	SNP	A	A	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:130135278A>G	ENST00000223215.4	+	2	317	c.96A>G	c.(94-96)ccA>ccG	p.P32P	MEST_ENST00000437945.1_Silent_p.P32P|MEST_ENST00000416162.2_Silent_p.P23P|MEST_ENST00000393187.1_Silent_p.P23P|MEST_ENST00000378576.4_Silent_p.P23P|MEST_ENST00000341441.4_Silent_p.P23P	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	32					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TGCACATCCCACCCCCTCAGC	0.557000													24	55					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104083682	104083682	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:104083682C>T	ENST00000388887.2	+	29	3308	c.3104C>T	c.(3103-3105)tCc>tTc	p.S1035F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1035	FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTCGTGCCTTCCCAACAAGCT	0.438000													10	67					0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127255585	127255585	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:127255585C>T	ENST00000338516.3	-	2	13	c.13_splice	c.e2-1	p.G5_splice	PAX4_ENST00000341640.2_5'UTR|PAX4_ENST00000378740.2_5'UTR|PAX4_ENST00000463946.1_5'UTR			O43316	PAX4_HUMAN	paired box 4	5	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCTGCTGATCCCTGGGCGTGA	0.637000													53	44					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124377610	124377610	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:124377610G>A	ENST00000368909.3	+	38	4688	c.4582G>A	c.(4582-4584)Ggc>Agc	p.G1528S	DMBT1_ENST00000330163.4_Missense_Mutation_p.G900S|DMBT1_ENST00000359586.6_Missense_Mutation_p.G379S|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1518S|DMBT1_ENST00000368956.2_Missense_Mutation_p.G900S|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1518S|DMBT1_ENST00000338354.3_Missense_Mutation_p.G1528S	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1528	SRCR 12.				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			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)				CCTATACCAAGGCTCCTGGGG	0.582000													53	313					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156883785	156883785	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:156883785G>A	ENST00000338302.3	+	23	3080	c.2855G>A	c.(2854-2856)gGa>gAa	p.G952E	PEAR1_ENST00000292357.7_Missense_Mutation_p.G952E			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	952	Pro-rich.					integral to membrane		p.G952E(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTCCCTCAGGATCTCCCCCC	0.662000													10	18					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067445	9067445	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:9067445G>A	ENST00000397910.4	-	3	20204	c.20001C>T	c.(19999-20001)gaC>gaT	p.D6667D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6669	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATACGATGGGGTCCTGGGAGG	0.507000													30	62					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121930123	121930123	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:121930123C>T	ENST00000265922.3	-	8	1986	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		509					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AGGCGGATCTCGTTGCTGATG	0.552000													20	29					0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104124864	104124864	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:104124864T>C	ENST00000259407.2	-	4	1211	c.1103A>G	c.(1102-1104)tAt>tGt	p.Y368C	BAAT_ENST00000395051.3_Missense_Mutation_p.Y368C	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	368					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CAGAGGAGAATAGGGAGGTTC	0.552000													21	24					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				36	49					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45931079	45931079	+	Splice_Site	SNP	G	G	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:45931079G>T	ENST00000348697.2	+	8	931		c.e8-1		FBLN1_ENST00000402984.3_Splice_Site|FBLN1_ENST00000340923.5_Splice_Site|FBLN1_ENST00000262722.7_Splice_Site|FBLN1_ENST00000442170.2_Splice_Site|FBLN1_ENST00000327858.6_Splice_Site			P23142	FBLN1_HUMAN	fibulin 1						interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGATGTACCAGATATTGACGA	0.413000													17	53					2.35188e-11	2.40372e-11	1	1	0
ZSCAN20	7579	broad.mit.edu	37	1	33954745	33954745	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:33954745C>T	ENST00000361328.3	+	4	788	c.635C>T	c.(634-636)cCa>cTa	p.P212L	ZSCAN20_ENST00000373413.2_Intron|ZSCAN20_ENST00000480917.1_3'UTR	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	212					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P212L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTACTCTCCCAAAGATGGGG	0.517000													6	16					0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130460862	130460862	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:130460862C>T	ENST00000529410.1	+	25	2786	c.2307C>T	c.(2305-2307)ttC>ttT	p.F769F	L3MBTL3_ENST00000526019.1_Silent_p.F744F|L3MBTL3_ENST00000368136.2_Silent_p.F769F|L3MBTL3_ENST00000368139.2_Silent_p.F744F|RP11-73O6.3_ENST00000415964.1_RNA|L3MBTL3_ENST00000361794.2_Silent_p.F769F|L3MBTL3_ENST00000533560.1_Silent_p.F744F			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	769	SAM.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TCCTGATGTTCAAAGCTGCAG	0.353000													3	23					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324950	31324950	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:31324950C>T	ENST00000269197.5	+	12	5138	c.5138C>T	c.(5137-5139)tCa>tTa	p.S1713L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1713					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCTTCCACCTCAAGTCCCATG	0.557000													26	51					0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66989016	66989016	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:66989016G>A	ENST00000276570.5	+	4	528	c.241G>A	c.(241-243)Gac>Aac	p.D81N	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	81	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAGCATATACGACAAGTACGG	0.468000													42	114					0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48523033	48523033	+	Missense_Mutation	SNP	A	A	T	rs144418346		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:48523033A>T	ENST00000339841.2	+	5	591	c.413A>T	c.(412-414)aAt>aTt	p.N138I	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	138	Fibronectin type-II 3.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TACAGAAATAATGTGGTCTCT	0.473000													16	31					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99012752	99012752	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:99012752G>A	ENST00000393504.1	+	8	1536	c.1119G>A	c.(1117-1119)gtG>gtA	p.V373V	CNGA3_ENST00000436404.2_Silent_p.V355V|CNGA3_ENST00000409937.1_Silent_p.V377V|CNGA3_ENST00000272602.2_Silent_p.V373V	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	373					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CACCCCCCGTGAAAGATGAGG	0.507000													15	61					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28662223	28662223	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:28662223C>T	ENST00000280904.6	-	9	1687	c.1244G>A	c.(1243-1245)gGa>gAa	p.G415E	DSC2_ENST00000251081.6_Missense_Mutation_p.G415E	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	415	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ACAAAGAACTCCTTCATTGGT	0.294000													9	34					0	0	1	0	0
LRR1	122769	broad.mit.edu	37	14	50074322	50074322	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:50074322T>A	ENST00000298288.6	+	3	811	c.487T>A	c.(487-489)Tac>Aac	p.Y163N	LRR1_ENST00000318317.4_Intron	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	163										kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCAGACTTCTTACTGTGGGCT	0.338000													3	25					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41581128	41581128	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:41581128G>A	ENST00000396942.1	-	8	818	c.735C>T	c.(733-735)atC>atT	p.I245I	ANK1_ENST00000396945.1_Silent_p.I245I|ANK1_ENST00000379758.2_Silent_p.I245I|ANK1_ENST00000352337.4_Silent_p.I245I|ANK1_ENST00000347528.4_Silent_p.I245I|ANK1_ENST00000289734.7_Silent_p.I245I|ANK1_ENST00000265709.8_Silent_p.I278I			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	245	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGCGGGAGGCGATGTGCAGTG	0.632000													33	49					0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666459	167666459	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:167666459G>A	ENST00000367854.3	+	6	929	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	RCSD1_ENST00000537350.1_Missense_Mutation_p.E170K	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	200										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CGGTGCTAAGGAAGAGGATGG	0.587000													10	51					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61542785	61542785	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:61542785G>A	ENST00000266070.4	-	3	505	c.180C>T	c.(178-180)tcC>tcT	p.S60S	DIDO1_ENST00000266071.5_Silent_p.S60S|DIDO1_ENST00000395335.2_Silent_p.S60S|DIDO1_ENST00000370366.1_Silent_p.S60S|DIDO1_ENST00000370368.1_Silent_p.S60S|DIDO1_ENST00000395340.1_Silent_p.S60S|DIDO1_ENST00000370371.4_Silent_p.S60S|DIDO1_ENST00000395343.1_Silent_p.S60S|DIDO1_ENST00000354665.4_Silent_p.S60S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	60					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGCGCCGCAGGGACAGGCCCA	0.701000													9	13					0	0	1	0	0
ERMARD	55780	broad.mit.edu	37	6	170160048	170160048	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:170160048C>T	ENST00000588451.1	+	7	855	c.342C>T	c.(340-342)ctC>ctT	p.L114L	C6orf70_ENST00000418781.3_Silent_p.L240L|C6orf70_ENST00000366772.2_Silent_p.L240L|C6orf70_ENST00000366773.3_Silent_p.L240L|C6orf70_ENST00000392095.4_Silent_p.L114L			Q5T6L9	CF070_HUMAN		240						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		TTACAAACCTCGAGGATTTGA	0.378000													13	46					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923366	24923366	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:24923366C>T	ENST00000329468.2	+	1	2826	c.2352C>T	c.(2350-2352)acC>acT	p.T784T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AGCAGAAAACCTCTCTCCCCA	0.547000													45	140					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133661546	133661546	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:133661546G>A	ENST00000310926.4	-	11	1801	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.P434S	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	510					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						TGGGCACAGGGGACAGGGCAC	0.562000													26	46					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891500	18891500	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:18891500C>T	ENST00000317658.3	+	1	456	c.298C>T	c.(298-300)Cag>Tag	p.Q100*		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	100					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GCTTCAAAATCAGCTGAAAGA	0.398000													21	36					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33566662	33566662	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:33566662C>T	ENST00000321505.4	+	2	2412	c.2232C>T	c.(2230-2232)ctC>ctT	p.L744L	KIAA1549L_ENST00000389726.3_Silent_p.L750L|KIAA1549L_ENST00000265654.5_Silent_p.L750L					KIAA1549-like																		CAACTTACCTCCCCAGGAAAC	0.572000													37	190					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25449332	25449332	+	RNA	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:25449332G>A	ENST00000424208.1	+	0	2224				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GGCCCTGGAGGAGGACTTGTA	0.612000													5	16					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183514226	183514226	+	Missense_Mutation	SNP	C	C	T	rs145036438		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:183514226C>T	ENST00000367537.3	+	17	2293	c.2098C>T	c.(2098-2100)Cct>Tct	p.P700S	SMG7_ENST00000456731.2_Missense_Mutation_p.P629S|SMG7_ENST00000347615.2_Missense_Mutation_p.P717S|SMG7_ENST00000508461.1_Missense_Mutation_p.P675S|SMG7_ENST00000507469.1_Missense_Mutation_p.P671S|SMG7_ENST00000515829.2_Missense_Mutation_p.P671S			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	717	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GTCCCACATTCCTTACAGCCA	0.552000													106	106					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241463561	241463561	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:241463561G>A	ENST00000391987.1	-	8	1672	c.1306C>T	c.(1306-1308)Ccg>Tcg	p.P436S	ANKMY1_ENST00000373320.4_Missense_Mutation_p.P206S|ANKMY1_ENST00000373318.2_Missense_Mutation_p.P295S|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000536462.1_Missense_Mutation_p.P248S|ANKMY1_ENST00000405523.3_Missense_Mutation_p.P295S|ANKMY1_ENST00000405002.1_Missense_Mutation_p.P206S|ANKMY1_ENST00000272972.3_Missense_Mutation_p.P436S|ANKMY1_ENST00000403283.1_Missense_Mutation_p.P374S|ANKMY1_ENST00000401804.1_Missense_Mutation_p.P525S|ANKMY1_ENST00000361678.4_Missense_Mutation_p.P295S			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	436							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TTCACCAACGGGGAGTCCCCC	0.627000													18	47					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107580750	107580750	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:107580750C>T	ENST00000393561.1	-	23	3701	c.3517G>A	c.(3517-3519)Ggc>Agc	p.G1173S	LAMB1_ENST00000222399.6_Missense_Mutation_p.G1149S			P07942	LAMB1_HUMAN	laminin, beta 1	1149	Laminin EGF-like 13.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACACTGGCCCGTGGACTGG	0.572000													48	40					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48143406	48143406	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:48143406C>T	ENST00000381501.3	-	15	1658	c.1501G>A	c.(1501-1503)Gga>Aga	p.G501R	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	501	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TTTACAACTCCCGCCTCACTT	0.348000													10	54					0	0	1	0	0
C1orf172	126695	broad.mit.edu	37	1	27277853	27277853	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:27277853C>T	ENST00000320567.5	-	2	1107	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	340										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GAGACCTGAGCCCACCATGGT	0.657000													4	10					0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16842985	16842985	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:16842985G>A	ENST00000437538.2	-	4	628	c.620C>T	c.(619-621)cCc>cTc	p.P207L	TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.P253L|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.P207L|TNFRSF13B_ENST00000579315.1_Intron			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	253					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						AGCACAAGTGGGGTCGGGGGT	0.657000									IgA Deficiency, Selective				11	29					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620266	7620266	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:7620266T>A	ENST00000486284.1	+	8	1947	c.1673T>A	c.(1672-1674)aTg>aAg	p.M558K	GRM7_ENST00000403881.1_Missense_Mutation_p.M558K|GRM7_ENST00000389336.4_Missense_Mutation_p.M558K|GRM7_ENST00000357716.4_Missense_Mutation_p.M558K|GRM7_ENST00000402647.2_Missense_Mutation_p.M558K|GRM7_ENST00000458641.2_3'UTR	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	558					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TTTGATGAGATGACATGCCAG	0.512000													35	64					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060509	46060509	+	Silent	SNP	C	C	T	rs139933358		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:46060509C>T	ENST00000295452.4	-	6	923	c.756G>A	c.(754-756)acG>acA	p.T252T		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	252					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TACCAGAGATCGTGTGAGTGA	0.328000													14	32					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108051333	108051333	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:108051333C>T	ENST00000280758.5	+	17	3681	c.3153C>T	c.(3151-3153)ctC>ctT	p.L1051L	BTBD11_ENST00000357167.4_Silent_p.L588L|BTBD11_ENST00000420571.2_Silent_p.L932L|BTBD11_ENST00000494235.2_Silent_p.L130L	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1051						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCTACTTTCTCAAAAACATGA	0.473000													22	29					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102298	168102298	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:168102298G>A	ENST00000409195.1	+	9	4485	c.4396G>A	c.(4396-4398)Gga>Aga	p.G1466R	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G1466R|XIRP2_ENST00000409273.1_Missense_Mutation_p.G1244R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1291					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAACTGAGAGGAGAAGGGTT	0.368000													19	51					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672824	141672824	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:141672824C>T	ENST00000547270.1	-	1	749	c.666G>A	c.(664-666)agG>agA	p.R222R		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	222					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TCCTCATGTGCCTTCCCAGGG	0.463000													13	78					0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13645355	13645355	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:13645355G>A	ENST00000361306.1	+	11	1768	c.1511G>A	c.(1510-1512)gGg>gAg	p.G504E	EGFL6_ENST00000380602.3_Missense_Mutation_p.G505E	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	504	MAM.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TGGAAGACAGGGAAAATTCAG	0.398000													42	19					0	0	1	0	0
VEGFA	7422	broad.mit.edu	37	6	43739022	43739022	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:43739022C>T	ENST00000372067.3	+	1	1073	c.579C>T	c.(577-579)gcC>gcT	p.A193A	VEGFA_ENST00000518689.1_Silent_p.A13A|VEGFA_ENST00000372064.4_Silent_p.A193A|VEGFA_ENST00000372055.4_Silent_p.A193A|VEGFA_ENST00000523873.1_Silent_p.A13A|VEGFA_ENST00000482630.2_Silent_p.A193A|VEGFA_ENST00000520948.1_Silent_p.A13A|VEGFA_ENST00000425836.2_Silent_p.A193A|VEGFA_ENST00000523950.1_Silent_p.A13A|VEGFA_ENST00000523125.1_Silent_p.A13A|VEGFA_ENST00000413642.3_Silent_p.A193A|VEGFA_ENST00000518824.1_Silent_p.A13A|VEGFA_ENST00000457104.2_Silent_p.A13A|VEGFA_ENST00000372077.4_Silent_p.A13A|VEGFA_ENST00000324450.6_Silent_p.A193A|VEGFA_ENST00000417285.2_Silent_p.A193A	NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5	NP_001020537.2|NP_001020538.2|NP_001020539.2|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4	P15692	VEGFA_HUMAN	vascular endothelial growth factor A	13					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	GGAGCCTTGCCTTGCTGCTCT	0.706000													41	33					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176018433	176018433	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:176018433A>C	ENST00000510636.1	+	30	3956	c.3682A>C	c.(3682-3684)Aaa>Caa	p.K1228Q	CDHR2_ENST00000261944.5_Missense_Mutation_p.K1228Q|CDHR2_ENST00000506348.1_Missense_Mutation_p.K1228Q	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1228					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCTCCCCAACAAAGACCTGGG	0.602000													7	167					0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153184327	153184327	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:153184327G>A	ENST00000370028.3	-	8	1168	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S	ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.P310S|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.P308S|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.P331S	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	331					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	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)					CGCAGCGGGGGACAGAAGACG	0.617000													64	32					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21689921	21689921	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:21689921C>T	ENST00000261195.2	-	16	2333	c.2079G>A	c.(2077-2079)ggG>ggA	p.G693G		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	693					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCTTTTTCTTCCCATGAGGAA	0.368000													21	34					0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2995398	2995398	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:2995398C>T	ENST00000331459.1	-	1	892	c.893G>A	c.(892-894)gGg>gAg	p.G298E		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	298					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TCCCAGAGCCCCATGCATGTC	0.468000													20	65					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394579	154394579	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:154394579C>T	ENST00000435029.4	+	1	1320	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	387					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATCTACAATCCCTGATGGAG	0.468000													41	36					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54913091	54913091	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:54913091G>A	ENST00000293373.6	+	16	1679	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E484K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	534					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATTGCTGGTGGAAACTTCTGA	0.428000													27	36					0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90026361	90026361	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:90026361G>A	ENST00000268122.4	-	3	527	c.459C>T	c.(457-459)atC>atT	p.I153I	RHCG_ENST00000544600.1_Silent_p.I153I	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	153					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AGAAAGTCATGATGAGCAGCT	0.547000													4	16					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12474403	12474403	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:12474403G>A	ENST00000242804.4	-	3	625	c.43C>T	c.(43-45)Cct>Tct	p.P15S	ZNF442_ENST00000438182.1_Intron	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TGAGAGTCAGGAAGGAAGAGA	0.478000													30	76					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33371051	33371051	+	Missense_Mutation	SNP	C	C	T	rs141493785	by1000genomes	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr21:33371051C>T	ENST00000270112.2	+	11	2059	c.1699C>T	c.(1699-1701)Cgc>Tgc	p.R567C		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	567					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GTCTGTGGATCGCGACGACCA	0.602000													20	43					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039049	11039049	+	RNA	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr21:11039049C>T	ENST00000470054.1	-	0	1154									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTTCAGAGTCCATCAATCCA	0.383000													9	385					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13885101	13885101	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:13885101G>A	ENST00000265104.4	-	19	3084	c.2980C>T	c.(2980-2982)Cgg>Tgg	p.R994W	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	994	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTATTACCCCGGAAGTTAATT	0.438000									Kartagener syndrome				26	52					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137488356	137488356	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:137488356C>T	ENST00000254900.5	-	21	3042	c.2671G>A	c.(2671-2673)Gac>Aac	p.D891N		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	891					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGACTGGAGTCCCATGAGCTG	0.512000													8	386					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814222	137814222	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:137814222C>T	ENST00000409968.1	+	3	550	c.372C>T	c.(370-372)gtC>gtT	p.V124V	THSD7B_ENST00000272643.3_Silent_p.V124V|THSD7B_ENST00000413152.2_Silent_p.V93V					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCGGTGAAGTCAAGCCTCGGA	0.537000													20	29					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921266	24921266	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:24921266C>T	ENST00000329468.2	+	1	726	c.252C>T	c.(250-252)gtC>gtT	p.V84V		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTCTGGGGGTCCTGCCGGCTG	0.687000													10	26					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84055943	84055943	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:84055943C>T	ENST00000369705.3	-	5	665	c.549G>A	c.(547-549)atG>atA	p.M183I	ME1_ENST00000543031.1_Missense_Mutation_p.M108I|ME1_ENST00000541327.1_Missense_Mutation_p.M17I	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	183					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CTTGAGGATTCATCCCTCCGC	0.443000													8	59					0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754081	167754081	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:167754081C>T	ENST00000239587.5	+	3	781	c.693C>T	c.(691-693)ttC>ttT	p.F231F		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	231	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTAAAGACTTCATCTTTGATG	0.403000													14	50					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33962640	33962640	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:33962640G>A	ENST00000389232.4	+	38	5813	c.5743G>A	c.(5743-5745)Gaa>Aaa	p.E1915K	RYR3_ENST00000415757.3_Missense_Mutation_p.E1915K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1915	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ggaagaagaggaagaggagga	0.483000													8	27					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169698418	169698418	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:169698418G>A	ENST00000333360.7	-	7	1138	c.999C>T	c.(997-999)ttC>ttT	p.F333F	SELE_ENST00000367780.4_Silent_p.F271F|SELE_ENST00000367776.1_Silent_p.F333F|SELE_ENST00000367779.4_Silent_p.F333F|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Silent_p.F271F|SELE_ENST00000367782.4_Silent_p.F333F|SELE_ENST00000367774.1_Silent_p.F333F|SELE_ENST00000367777.1_Silent_p.F333F|SELE_ENST00000367781.4_Silent_p.F333F	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	333	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CCTCACAGGTGAAGTTGCAGG	0.552000													23	29					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141812708	141812708	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:141812708C>T	ENST00000389484.3	-	10	2500	c.1529G>A	c.(1528-1530)gGa>gAa	p.G510E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	510					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		GCCATCACTTCCCAAGTTGAA	0.433000										TSP Lung(27;0.18)			7	41					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55419024	55419024	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:55419024C>T	ENST00000312422.2	+	1	645	c.645C>T	c.(643-645)tcC>tcT	p.S215S		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGCTAATCTCCTACAGCATCA	0.478000													39	51					0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701141	192701141	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:192701141G>A	ENST00000304141.4	-	2	1115	c.786C>T	c.(784-786)atC>atT	p.I262I		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	262						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTACAGATACGATCTTTGTCC	0.418000													71	131					0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42422929	42422929	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:42422929G>A	ENST00000328823.9	+	6	705	c.674G>A	c.(673-675)gGa>gAa	p.G225E	WBP2NL_ENST00000543212.1_Missense_Mutation_p.G151E	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	225	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CTTGGATACGGAGCCCCACCT	0.597000													239	1327					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47805766	47805766	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr21:47805766C>T	ENST00000359568.5	+	17	3439	c.3332C>T	c.(3331-3333)tCc>tTc	p.S1111F	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1111					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGGTTTTATCCTTAAGTCAC	0.473000													47	82					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31320648	31320648	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:31320648C>T	ENST00000542188.1	-	24	3544	c.3231G>A	c.(3229-3231)gaG>gaA	p.E1077E	TRPM1_ENST00000397795.2_Silent_p.E1038E|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000256552.6_Silent_p.E1060E|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1038					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GCCGCTTGCCCTCCTCATCAT	0.458000													12	56					0	0	1	0	0
FAM96B	51647	broad.mit.edu	37	16	66968234	66968234	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:66968234G>A	ENST00000422424.2	-	1	69	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L		NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN	family with sequence similarity 96, member B	12					chromosome segregation	cytoplasm|MMXD complex|nucleus	protein binding			kidney(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GCATTCTCCAGGAGGCCGCCG	0.692000													8	6					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234846064	234846064	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:234846064G>A	ENST00000324695.4	+	4	299	c.259G>A	c.(259-261)Gag>Aag	p.E87K	TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000409625.1_Missense_Mutation_p.E10K|TRPM8_ENST00000355722.4_Missense_Mutation_p.E37K	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	87						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CAACCAAAGTGAGAAATGGAA	0.493000													19	64					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39103760	39103760	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:39103760G>A	ENST00000297668.6	-	16	2590	c.2517C>T	c.(2515-2517)ttC>ttT	p.F839F	CNTNAP3_ENST00000358144.2_Silent_p.F751F|CNTNAP3_ENST00000377656.2_Silent_p.F838F	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	839	Laminin G-like 3.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAATCCTGATGAAATCTGTGA	0.448000													10	23					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80409515	80409515	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:80409515C>T	ENST00000265080.4	+	15	2313	c.2246C>T	c.(2245-2247)tCt>tTt	p.S749F	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	749	N-terminal Ras-GEF.|Regulates proteasomal degradation (By similarity).				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCTTTGACTTCTCCCTTGAAC	0.562000													130	49					0	0	1	0	0
PSMD9	5715	broad.mit.edu	37	12	122340959	122340959	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:122340959C>T	ENST00000544724.1	+	2	2623	c.234C>T	c.(232-234)acC>acT	p.T78T	PSMD9_ENST00000261817.2_Silent_p.T167T|PSMD9_ENST00000340175.5_Silent_p.T167T|PSMD9_ENST00000541212.1_Silent_p.T167T|RP11-87C12.2_ENST00000542602.1_Silent_p.T62T			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CTGTGAACACCCAGAACTTCC	0.517000													15	30					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540465	55540465	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:55540465C>T	ENST00000220676.1	+	4	4171	c.4023C>T	c.(4021-4023)acC>acT	p.T1341T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1341					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			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)			TCTGCAATACCATTGACTTTT	0.373000													14	58					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76022285	76022285	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:76022285G>A	ENST00000393004.2	-	5	3484	c.3263C>T	c.(3262-3264)cCa>cTa	p.P1088L	FILIP1_ENST00000237172.7_Missense_Mutation_p.P1088L|FILIP1_ENST00000370020.1_Missense_Mutation_p.P989L|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1088										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGTAATAACTGGACTGACTCC	0.498000													42	62					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160901443	160901443	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:160901443G>A	ENST00000283243.7	-	2	541	c.335C>T	c.(334-336)tCc>tTc	p.S112F	PLA2R1_ENST00000392771.1_Missense_Mutation_p.S112F	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	112	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CCACCGTAAGGAAACGAGGGT	0.532000													7	57					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110866326	110866326	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:110866326C>T	ENST00000375820.4	-	3	302	c.181G>A	c.(181-183)Ggg>Agg	p.G61R	COL4A1_ENST00000543140.1_Missense_Mutation_p.G61R	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	61					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAGGAAACCCAATGACACCT	0.542000													49	94					0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350637	51350637	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:51350637G>A	ENST00000327536.5	-	3	419	c.320C>T	c.(319-321)cCt>cTt	p.P107L	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	107										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		AAAAACATCAGGACCTATGGt	0.338000													9	14					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197397107	197397107	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:197397107C>T	ENST00000367397.1	+	3	1653	c.795C>T	c.(793-795)ggC>ggT	p.G265G	CRB1_ENST00000535699.1_Silent_p.G815G|CRB1_ENST00000367399.2_Silent_p.G772G|CRB1_ENST00000367400.3_Silent_p.G884G|CRB1_ENST00000544212.1_Silent_p.G365G|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	884	EGF-like 7; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAACCCAAGGCTGTGCTGGAG	0.333000													12	27					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228168582	228168582	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:228168582G>A	ENST00000396578.3	+	45	4125	c.3963G>A	c.(3961-3963)aaG>aaA	p.K1321K	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|COL4A3_ENST00000468753.1_3'UTR	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1321	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TAGGAGAAAAGGGTAATCCTG	0.408000													10	28					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096883	107096883	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:107096883C>T	ENST00000261058.1	+	1	696	c.449C>T	c.(448-450)tCc>tTc	p.S150F		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	150										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AATTCCTGCTCCACGATACAT	0.398000													22	29					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52825903	52825903	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:52825903T>A	ENST00000273283.2	+	22	2736	c.2712T>A	c.(2710-2712)gaT>gaA	p.D904E	ITIH1_ENST00000540715.1_Missense_Mutation_p.D762E|ITIH1_ENST00000537050.1_Missense_Mutation_p.D616E|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000405128.3_Missense_Mutation_p.D270E	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	904	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CCTACACTGATTATATCGTCC	0.592000													7	35					0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580618	580618	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:580618G>A	ENST00000327228.3	+	1	252	c.210G>A	c.(208-210)aaG>aaA	p.K70K		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	70	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						AAGAGATGAAGAAAATGATCT	0.557000													12	15					0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88416962	88416962	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:88416962C>T	ENST00000372071.2	+	3	528	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	OPN4_ENST00000241891.5_Intron	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	97					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						agctgtgcttcgtggagtcac	0.547000													8	40					0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116605957	116605957	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:116605957C>T	ENST00000369248.4	+	10	1564	c.1229C>T	c.(1228-1230)tCc>tTc	p.S410F	FAM160B1_ENST00000369250.3_Missense_Mutation_p.S410F	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	410										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ATTCTCACATCCACTGCTCTG	0.428000													18	110					0	0	1	0	0
RP11-44F14.1	0	broad.mit.edu	37	16	53404747	53404747	+	RNA	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:53404747C>T	ENST00000565421.1	-	0	294																											TCTTGGTTTTCCATGTCCTGT	0.398000													8	19					0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2890745	2890745	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:2890745C>T	ENST00000380698.4	-	7	872	c.783G>A	c.(781-783)aaG>aaA	p.K261K		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	261					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				CCTCAGTACTCTTCATACAGT	0.413000													39	53					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704146	56704146	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:56704146G>A	ENST00000586855.2	-	2	589	c.276C>T	c.(274-276)ttC>ttT	p.F92F	ZSCAN5B_ENST00000358992.3_Silent_p.F92F			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	92	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGGAGATCATGAACTGCTCCA	0.552000													10	25					0	0	1	0	0
ABHD4	63874	broad.mit.edu	37	14	23072594	23072594	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:23072594C>A	ENST00000428304.2	+	3	482	c.412C>A	c.(412-414)Ccc>Acc	p.P138T	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	138					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		CATGGGGATCCCCAGCATGAT	0.562000													32	24					2.61193e-14	2.67571e-14	1	1	0
SPTSSB	165679	broad.mit.edu	37	3	161064020	161064020	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:161064020C>T	ENST00000359175.4	-	3	1662	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	SPTSSB_ENST00000497137.1_Missense_Mutation_p.R31Q	NM_001040100.1	NP_001035189.1	Q8NFR3	SSPTB_HUMAN	serine palmitoyltransferase, small subunit B	31					sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding										AAACATAGATCGCTCCCAGGG	0.428000													18	40					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4842640	4842640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:4842640C>T	ENST00000322110.5	+	1	90	c.25C>T	c.(25-27)Cag>Tag	p.Q9*	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTGTCTTCTCAGTGCTTCCC	0.423000													70	106					0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242285635	242285635	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:242285635C>T	ENST00000391973.2	+	10	1425	c.897C>T	c.(895-897)ttC>ttT	p.F299F	SEPT2_ENST00000391971.2_Silent_p.F299F|SEPT2_ENST00000407971.1_Silent_p.F259F|SEPT2_ENST00000401990.1_Silent_p.F309F|SEPT2_ENST00000402092.2_Silent_p.F299F|SEPT2_ENST00000360051.3_Silent_p.F299F	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	299					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		ATGAAAACTTCCGTTCTGAGA	0.507000													10	30					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18668982	18668982	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:18668982C>T	ENST00000406451.3	+	7	815	c.665C>T	c.(664-666)cCc>cTc	p.P222L	HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000441542.2_Missense_Mutation_p.P225L|HDAC9_ENST00000456174.2_Missense_Mutation_p.P194L|HDAC9_ENST00000405010.3_Missense_Mutation_p.P222L|HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000432645.2_Missense_Mutation_p.P222L|HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000417496.2_Intron	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	222	Interaction with ETV6.|Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCCTCTGAGCCCAACTTGAAG	0.398000													5	8					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319635	31319635	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:31319635C>T	ENST00000269197.5	+	11	2267	c.2267C>T	c.(2266-2268)tCc>tTc	p.S756F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	756	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCTCCAATTTCCAACTCTTCC	0.443000													52	98					0	0	1	0	0
WDR82	80335	broad.mit.edu	37	3	52292613	52292613	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:52292613G>A	ENST00000296490.3	-	8	1132	c.851C>T	c.(850-852)cCg>cTg	p.P284L		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	284					histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		ACAGGTAATCGGGCCTGTGTG	0.468000													40	88					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994858	143994858	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:143994858G>A	ENST00000323110.2	-	6	966	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	322					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.P322T(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	ATCAGCAAGGGAAACGCTGTC	0.632000									Familial Hyperaldosteronism type I				19	97					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140201380	140201380	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:140201380G>A	ENST00000529859.1	+	1	20	c.20G>A	c.(19-21)gGa>gAa	p.G7E	PCDHA5_ENST00000378126.3_Missense_Mutation_p.G7E|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G7E	NM_018908.2	NP_061731.1														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)			TCCCGGAGAGGAAGTCTGGGA	0.483000													12	34					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137025	126137025	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:126137025G>A	ENST00000299308.3	+	8	1946	c.1938G>A	c.(1936-1938)aaG>aaA	p.K646K	TMEM132B_ENST00000535886.1_Silent_p.K158K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	646						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGGCTGAGAAGACGGTGATTG	0.557000													19	21					0	0	1	0	0
ZNF8	7554	broad.mit.edu	37	19	58806071	58806071	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:58806071C>T	ENST00000196548.5	+	4	1028	c.897C>T	c.(895-897)tcC>tcT	p.S299S	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		AGAACTCCTCCCTCGTCCAGC	0.517000													15	30					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400774	89400774	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:89400774C>T	ENST00000439576.2	+	12	5332	c.4958C>T	c.(4957-4959)cCa>cTa	p.P1653L	ACAN_ENST00000352105.7_Missense_Mutation_p.P1653L|ACAN_ENST00000561243.1_Missense_Mutation_p.P1653L|ACAN_ENST00000559004.1_Missense_Mutation_p.P1653L	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1653					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTGGACTTCCATCTGGATTC	0.527000													26	146					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909235	123909235	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:123909235C>G	ENST00000330487.5	-	1	482	c.474G>C	c.(472-474)caG>caC	p.Q158H		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCAATATGGTCTGGACAGCAG	0.572000													5	209					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135622837	135622837	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:135622837C>T	ENST00000520727.1	-	5	773	c.474G>A	c.(472-474)tcG>tcA	p.S158S	ZFAT_ENST00000429442.2_Silent_p.S158S|ZFAT_ENST00000523399.1_Intron|ZFAT_ENST00000377838.3_Silent_p.S170S|ZFAT_ENST00000520356.1_Silent_p.S158S|ZFAT_ENST00000520214.1_Silent_p.S158S	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGGTCTTTTCGAGGCTTTTT	0.438000													5	84					0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23396824	23396824	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:23396824C>T	ENST00000324366.8	-	4	584	c.361G>A	c.(361-363)Gct>Act	p.A121T	PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000216350.8_Splice_Site|PRMT5_ENST00000397441.2_Missense_Mutation_p.A104T|PRMT5_ENST00000553897.1_Splice_Site|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000538452.1_Missense_Mutation_p.A15T	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	121					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AGCAGGAAAGCTGGAAGACCC	0.458000													9	34					0	0	1	0	0
PI3	5266	broad.mit.edu	37	20	43804559	43804559	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:43804559C>T	ENST00000243924.3	+	2	184	c.137C>T	c.(136-138)cCc>cTc	p.P46L		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	46	2 X tandem repeats of SVP-1 like motif.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GGACAAGATCCCGTTAAAGGA	0.453000													5	78					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	617686	617686	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:617686C>T	ENST00000358353.3	-	16	2525	c.2203G>A	c.(2203-2205)Gac>Aac	p.D735N	CDHR5_ENST00000349570.7_Missense_Mutation_p.D541N|CDHR5_ENST00000397542.2_Missense_Mutation_p.D735N			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	735					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGCTTGGGGTCGTGCGTGGGG	0.756000													4	2					0	0	1	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099611	142099611	+	RNA	SNP	A	A	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:142099611A>C	ENST00000390359.3	-	0	229																											ATAAGTCAGAAACTCTGGCCC	0.517000													56	54					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43860578	43860578	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:43860578T>G	ENST00000389420.3	-	9	1243	c.1244A>C	c.(1243-1245)gAt>gCt	p.D415A	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D415A	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	415	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCTAGGATTATCATCATGTTG	0.323000													8	22					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715388	165715388	+	Silent	SNP	A	A	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:165715388A>G	ENST00000543069.1	-	2	692	c.111T>C	c.(109-111)acT>acC	p.T37T	C6orf118_ENST00000230301.8_Silent_p.T141T			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	141										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCTCCTCTGAAGTGTGGGAAA	0.632000													42	65					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56538995	56538995	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:56538995G>A	ENST00000390649.3	+	7	1396	c.1396G>A	c.(1396-1398)Gac>Aac	p.D466N		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	466	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGAGCTGCTCGACCAGTGCCA	0.617000													15	31					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686190	100686190	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:100686190G>A	ENST00000306151.4	+	3	11557	c.11493G>A	c.(11491-11493)gaG>gaA	p.E3831E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3831	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCCTTCTGAGGCCAGCACAC	0.483000													19	58					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26721946	26721946	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:26721946C>T	ENST00000380573.3	-	2	1564	c.541G>A	c.(541-543)Gag>Aag	p.E181K	ADRA1A_ENST00000276393.4_Missense_Mutation_p.E181K|ADRA1A_ENST00000354550.4_Missense_Mutation_p.E181K|ADRA1A_ENST00000380581.2_Missense_Mutation_p.E181K|ADRA1A_ENST00000380586.1_Missense_Mutation_p.E181K|ADRA1A_ENST00000519229.1_Missense_Mutation_p.E181K|ADRA1A_ENST00000380582.3_Missense_Mutation_p.E181K|ADRA1A_ENST00000358857.5_Missense_Mutation_p.E181K|ADRA1A_ENST00000380587.1_Missense_Mutation_p.E181K|ADRA1A_ENST00000380572.3_Missense_Mutation_p.E181K			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	181					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TAGCCCGGCTCCTCGTTGATC	0.632000													14	35					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262407	45262407	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:45262407C>T	ENST00000303230.4	-	8	2346	c.2289G>A	c.(2287-2289)ccG>ccA	p.P763P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	763						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTCATTTTTCGGCGTGGAGC	0.652000													13	48					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33526684	33526684	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:33526684G>A	ENST00000404816.2	+	22	3807	c.3454G>A	c.(3454-3456)Gca>Aca	p.A1152T	LTBP1_ENST00000390003.4_Missense_Mutation_p.A827T|LTBP1_ENST00000404525.1_Missense_Mutation_p.A773T|LTBP1_ENST00000407925.1_Missense_Mutation_p.A826T|LTBP1_ENST00000402934.1_Missense_Mutation_p.A773T|LTBP1_ENST00000272273.5_Missense_Mutation_p.A92T|LTBP1_ENST00000418533.2_Missense_Mutation_p.A826T|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000354476.3_Missense_Mutation_p.A1153T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1152	EGF-like 10; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGGTTACAGAGCATCTGGGCT	0.488000													14	29					0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238727187	238727187	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:238727187G>A	ENST00000316997.4	+	3	1760	c.1628G>A	c.(1627-1629)gGa>gAa	p.G543E	RBM44_ENST00000409864.1_Missense_Mutation_p.G543E|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	542							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AAAGGATCAGGAAAATCTCTC	0.308000													5	9					0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57524951	57524951	+	Silent	SNP	G	G	A	rs138618347		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:57524951G>A	ENST00000267811.5	+	11	1171	c.867G>A	c.(865-867)acG>acA	p.T289T	TCF12_ENST00000438423.2_Silent_p.T289T|TCF12_ENST00000452095.2_Silent_p.T285T|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000543579.1_Silent_p.T119T|TCF12_ENST00000537840.1_Silent_p.T53T|TCF12_ENST00000557843.1_Silent_p.T289T|TCF12_ENST00000343827.3_Silent_p.T119T|TCF12_ENST00000333725.5_Silent_p.T289T	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	289					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ACATAAACACGAGTCTTCCAC	0.408000			T	TEC	extraskeletal myxoid chondrosarcoma								15	44					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554679	140554679	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:140554679G>A	ENST00000231137.3	+	1	2437	c.2263G>A	c.(2263-2265)Gga>Aga	p.G755R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		755					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCCTGACTGGAGGCTCCGG	0.562000													4	98					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177073070	177073070	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:177073070A>T	ENST00000393643.2	+	17	2664	c.2412A>T	c.(2410-2412)agA>agT	p.R804S	WDR17_ENST00000507824.2_Missense_Mutation_p.R811S|WDR17_ENST00000508596.1_Missense_Mutation_p.R804S|WDR17_ENST00000280190.4_Missense_Mutation_p.R828S	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	828										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)		TCCACTTGAGATTAGGACAAA	0.373000													26	33					0	0	1	0	0
MAP3K8	1326	broad.mit.edu	37	10	30739328	30739328	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:30739328C>T	ENST00000263056.1	+	5	1342	c.646C>T	c.(646-648)Ctg>Ttg	p.L216L	MAP3K8_ENST00000542547.1_Silent_p.L216L|MAP3K8_ENST00000375321.1_Silent_p.L216L	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	216	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				AGGGTCTGTTCTGGAGAAACT	0.483000													11	34					0	0	1	0	0
IGLV3-10	28803	broad.mit.edu	37	22	23154558	23154558	+	RNA	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:23154558G>A	ENST00000390315.2	+	0	162																											CACCTGCTCTGGAGATGCATT	0.547000													25	180					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754627	49754627	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:49754627C>T	ENST00000304801.3	-	1	426	c.274G>A	c.(274-276)Gat>Aat	p.D92N		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	92					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AACAGAACATCCTTGCCCAGC	0.512000													64	64					0	0	1	0	0
FAHD2A	51011	broad.mit.edu	37	2	96072702	96072702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:96072702C>T	ENST00000233379.4	+	3	412	c.259C>T	c.(259-261)Cag>Tag	p.Q87*	FAHD2A_ENST00000447036.1_Nonsense_Mutation_p.Q87*	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	87							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						CCTGGCTGCCCAGTTGCCAGT	0.597000													7	15					0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66210331	66210331	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:66210331C>T	ENST00000409699.2	-	16	2231	c.2059G>A	c.(2059-2061)Gga>Aga	p.G687R	MEGF11_ENST00000395625.2_Missense_Mutation_p.G612R|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000360698.4_Missense_Mutation_p.G687R|MEGF11_ENST00000422354.1_Missense_Mutation_p.G687R|MEGF11_ENST00000288745.3_Missense_Mutation_p.G612R			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	687	EGF-like 11.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CCAATCCATCCAGGAAAGCAC	0.582000													13	24					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23810687	23810687	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:23810687C>T	ENST00000354639.3	+	14	2172	c.1708C>T	c.(1708-1710)Cat>Tat	p.H570Y	STK31_ENST00000355870.3_Missense_Mutation_p.H593Y|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.H570Y|STK31_ENST00000433467.2_Missense_Mutation_p.H593Y	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	593							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCAAAAGATTCATTCAGAGGA	0.338000													30	58					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138657008	138657008	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:138657008C>T	ENST00000298480.5	+	12	1241	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	KCNT1_ENST00000371757.2_Silent_p.F389F|KCNT1_ENST00000491806.2_Silent_p.F356F|KCNT1_ENST00000490355.2_Silent_p.F370F|KCNT1_ENST00000263604.3_Silent_p.F370F|KCNT1_ENST00000488444.2_Silent_p.F370F|KCNT1_ENST00000487664.1_Silent_p.F344F|KCNT1_ENST00000486577.2_Silent_p.F350F			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	389						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCATGGACTTCCTGAACGAGT	0.647000													18	85					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75111629	75111629	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:75111629G>A	ENST00000379709.3	+	6	736	c.734G>A	c.(733-735)gGa>gAa	p.G245E	LMAN1L_ENST00000309664.5_Intron			Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	257	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GATCCCACTGGACAGGTAAGA	0.577000													18	128					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163072460	163072460	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:163072460G>A	ENST00000188790.4	-	10	1021	c.814C>T	c.(814-816)Cct>Tct	p.P272S	FAP_ENST00000443424.1_Missense_Mutation_p.P247S	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	272					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ACATACGCAGGGTAAGTGGTA	0.423000													20	33					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51791004	51791004	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:51791004G>C	ENST00000251076.5	-	18	4704	c.4417C>G	c.(4417-4419)Caa>Gaa	p.Q1473E	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q1473E	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1473						cell junction|synaptic vesicle membrane	Rab GTPase binding			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)		TCCTGGATTTGAAACAGCTCT	0.353000													10	141					0	0	1	0	0
FRRS1L	23732	broad.mit.edu	37	9	111903728	111903728	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:111903728C>T	ENST00000374581.3	-	4	756	c.757G>A	c.(757-759)Gtc>Atc	p.V253I		NM_014334.2	NP_055149.2	Q9P0K9	CI004_HUMAN	ferric-chelate reductase 1-like	253	DOMON.					integral to membrane											CTGCAGGTGACGCGATTGTTC	0.458000													16	86					0	0	1	0	0
MTX2	10651	broad.mit.edu	37	2	177195314	177195314	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:177195314C>T	ENST00000392529.2	+	10	921	c.516C>T	c.(514-516)gtC>gtT	p.V172V	MTX2_ENST00000249442.6_Silent_p.V182V|MTX2_ENST00000443241.1_Silent_p.V126V			O75431	MTX2_HUMAN	metaxin 2	182					protein targeting to mitochondrion	mitochondrial outer membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TGTGTTAGGTCTTAGAGGATG	0.328000													75	194					0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27306476	27306476	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:27306476G>A	ENST00000380320.4	+	4	2536	c.2037G>A	c.(2035-2037)ggG>ggA	p.G679G		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	679					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGACCTGGGGGCAACCAAGG	0.562000													37	59					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119957997	119957997	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:119957997G>A	ENST00000327554.2	+	9	1505	c.1040_splice	c.e9+1	p.S347_splice	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	347										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CTCAAATCAAGGTAGGAAAGC	0.507000													25	76					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432549	104432549	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:104432549G>A	ENST00000361820.3	-	3	2745	c.2145C>T	c.(2143-2145)tcC>tcT	p.S715S		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	715					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTGAAGAAAAGGAGAAGACTT	0.448000													15	105					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102568940	102568940	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:102568940A>G	ENST00000370296.2	+	8	1485	c.935A>G	c.(934-936)aAc>aGc	p.N312S	PAX2_ENST00000428433.1_Missense_Mutation_p.N312S|PAX2_ENST00000361791.3_Missense_Mutation_p.N289S|PAX2_ENST00000556085.1_Missense_Mutation_p.N288S|PAX2_ENST00000355243.3_Missense_Mutation_p.N289S			Q02962	PAX2_HUMAN	paired box 2	312					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GCATCCACCAACCCTGAGCTG	0.587000													28	42					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168233477	168233477	+	Silent	SNP	G	G	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:168233477G>T	ENST00000519560.1	-	9	1328	c.909C>A	c.(907-909)gcC>gcA	p.A303A	SLIT3_ENST00000404867.3_Silent_p.A303A|SLIT3_ENST00000332966.8_Silent_p.A303A	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	303	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGGCAAGTTGGCAGGAATCT	0.577000													10	126					0.000442599	0.000445126	1	1	0
MGAM	8972	broad.mit.edu	37	7	141736051	141736051	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:141736051C>T	ENST00000475668.2	+	17	2096	c.2042C>T	c.(2041-2043)cCg>cTg	p.P681L	MGAM_ENST00000549489.2_Missense_Mutation_p.P681L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	681	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCATTTTATCCGTTTTCTAGA	0.478000													3	13					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257	by1000genomes	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y						ankyrin repeat domain 36C									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000													5	41					1.024e-07	1.03934e-07	1	1	0
DSCAML1	57453	broad.mit.edu	37	11	117376369	117376369	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:117376369G>A	ENST00000321322.6	-	9	2043	c.2042C>T	c.(2041-2043)tCg>tTg	p.S681L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S411L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	621	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CATGTCCCCCGAGGACACCAC	0.612000													17	27					0	0	1	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142120318	142120318	+	RNA	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:142120318C>T	ENST00000390377.1	-	0	3																											AGACTGGTACCCATGACAGTG	0.512000													47	133					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222716881	222716881	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:222716881C>T	ENST00000343410.6	-	2	1030	c.972G>A	c.(970-972)gaG>gaA	p.E324E		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	324					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCTCTCACCTCTCTGATTTCA	0.443000													59	482					0	0	1	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744370	31744370	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr21:31744370C>T	ENST00000399889.2	-	1	187	c.162G>A	c.(160-162)agG>agA	p.R54R		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	54	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						CCTGACAGCCCCTATAGAGAG	0.612000													26	50					0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	100996217	100996217	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:100996217G>A	ENST00000284382.4	-	12	1303	c.880C>T	c.(880-882)Cac>Tac	p.H294Y	CERS3_ENST00000538112.2_Missense_Mutation_p.H294Y|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000394113.1_Missense_Mutation_p.H294Y	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	294	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GGCTCGAGGTGATACATAGGC	0.378000													16	19					0	0	1	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439539	150439539	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:150439539C>T	ENST00000358647.3	+	3	679	c.312C>T	c.(310-312)taC>taT	p.Y104Y	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGACTGCTACCTGCTCTCTG	0.582000													58	70					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43808936	43808936	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:43808936G>A	ENST00000403856.1	-	9	812	c.665C>T	c.(664-666)cCc>cTc	p.P222L	THADA_ENST00000404790.1_Missense_Mutation_p.P222L|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000402360.2_Missense_Mutation_p.P222L|THADA_ENST00000405975.2_Missense_Mutation_p.P222L|THADA_ENST00000405006.4_Missense_Mutation_p.P222L			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	222							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTGCCATATGGGAGAATCGGA	0.338000													24	46					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137622106	137622106	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:137622106G>A	ENST00000371817.3	+	7	1363	c.949G>A	c.(949-951)Gct>Act	p.A317T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	317	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCACGGAAGCTGCTCCCAT	0.642000													48	84					0	0	1	0	0
TAF5	6877	broad.mit.edu	37	10	105145100	105145100	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:105145100C>T	ENST00000369839.3	+	8	1705	c.1682C>T	c.(1681-1683)tCt>tTt	p.S561F	TAF5_ENST00000351396.4_Intron	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	561					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CTGCTTTCCTCTTCAGAGGAC	0.393000													7	28					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768734	88768734	+	RNA	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:88768734C>T	ENST00000444431.1	+	0	3334				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CTGCCCCCCTCCCCTCATGCC	0.493000													11	55					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220809193	220809193	+	Missense_Mutation	SNP	C	C	T	rs145170499		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:220809193C>T	ENST00000402574.1	+	13	1892	c.890C>T	c.(889-891)cCt>cTt	p.P297L	MARK1_ENST00000366918.4_Missense_Mutation_p.P410L|MARK1_ENST00000366917.4_Missense_Mutation_p.P432L	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	432	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.P432L(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TCCATTCCTCCTGCTGTATCA	0.383000													22	38					0	0	1	0	0
APOM	55937	broad.mit.edu	37	6	31624330	31624330	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:31624330G>A	ENST00000375916.3	+	2	692	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	APOM_ENST00000375920.4_5'UTR|APOM_ENST00000375918.2_5'UTR	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	66					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						TTTTGACCCTGTGGACAACAT	0.552000													4	145					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42273300	42273300	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:42273300G>A	ENST00000379310.3	-	29	3539	c.3471C>T	c.(3469-3471)ttC>ttT	p.F1157F		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CTGTTCTTGGGAAGATATCAA	0.458000													12	81					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157514189	157514189	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:157514189C>T	ENST00000361835.3	-	5	864	c.707G>A	c.(706-708)gGa>gAa	p.G236E	FCRL5_ENST00000368190.3_Missense_Mutation_p.G236E|FCRL5_ENST00000368191.3_Missense_Mutation_p.G151E|FCRL5_ENST00000356953.4_Missense_Mutation_p.G236E|FCRL5_ENST00000368189.3_Missense_Mutation_p.G236E	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	236	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCAGCCTAATCCCAGGGTCTG	0.542000													71	131					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186673448	186673448	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:186673448C>T	ENST00000343098.5	+	17	19682	c.19682C>T	c.(19681-19683)tCa>tTa	p.S6561L	FSIP2_ENST00000424728.1_Missense_Mutation_p.S6472L	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACAATTAACTCAACAATTTCA	0.308000													19	18					0	0	1	0	0
VEGFA	7422	broad.mit.edu	37	6	43748520	43748520	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:43748520C>T	ENST00000425836.2	+	6	1014	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	VEGFA_ENST00000518689.1_Silent_p.S158S|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000230480.6_Intron|VEGFA_ENST00000372055.4_Silent_p.S338S|VEGFA_ENST00000523873.1_Silent_p.S158S|VEGFA_ENST00000482630.2_Intron|VEGFA_ENST00000520948.1_Silent_p.S158S|VEGFA_ENST00000372067.3_Intron|VEGFA_ENST00000523950.1_Intron|VEGFA_ENST00000523125.1_Intron|VEGFA_ENST00000413642.3_Silent_p.S338S|VEGFA_ENST00000518824.1_Intron|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000324450.6_Intron|VEGFA_ENST00000417285.2_Intron			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	158					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	GCAAGAAATCCCGGTATAAGT	0.552000													23	105					0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91146847	91146847	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:91146847G>A	ENST00000357056.2	-	8	1104	c.983C>T	c.(982-984)gCc>gTc	p.A328V	TTC7B_ENST00000328459.6_Missense_Mutation_p.A328V			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	328							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TAACAACAGGGCTTCTTCCGT	0.368000													12	17					0	0	1	0	0
SERPINB6	5269	broad.mit.edu	37	6	2948536	2948536	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:2948536G>A	ENST00000380520.1	-	6	3121	c.1127C>T	c.(1126-1128)cCg>cTg	p.P376L	SERPINB6_ENST00000380529.1_Missense_Mutation_p.P376L|SERPINB6_ENST00000380524.1_Missense_Mutation_p.P376L|SERPINB6_ENST00000380546.3_Missense_Mutation_p.P376L|SERPINB6_ENST00000380539.1_Missense_Mutation_p.P376L|SERPINB6_ENST00000335686.5_Missense_Mutation_p.P376L			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	376					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CTGTCCTCACGGAGAGGAAAA	0.602000													35	48					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11096946	11096946	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:11096946C>T	ENST00000409790.1	+	11	1317	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	CLEC16A_ENST00000409552.3_Missense_Mutation_p.R361W	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	363										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCCAGCATTCGGTGCTTCAT	0.498000													18	12					0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44053082	44053082	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:44053082G>A	ENST00000306006.6	-	2	1098	c.446C>T	c.(445-447)cCc>cTc	p.P149L	ZNF239_ENST00000374446.2_Missense_Mutation_p.P149L|ZNF239_ENST00000535642.1_Missense_Mutation_p.P149L|ZNF239_ENST00000426961.1_Missense_Mutation_p.P149L|ZNF239_ENST00000491188.1_5'UTR	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACAGTCAATGGGATCCAAAGA	0.443000													15	28					0	0	1	0	0
CYBA	1535	broad.mit.edu	37	16	88717414	88717414	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:88717414T>C	ENST00000569359.1	-	1	24	c.8A>G	c.(7-9)cAg>cGg	p.Q3R	CYBA_ENST00000567174.1_Missense_Mutation_p.Q3R|CYBA_ENST00000261623.3_Missense_Mutation_p.Q3R|CYBA_ENST00000561972.1_5'UTR			P13498	CY24A_HUMAN	cytochrome b-245, alpha polypeptide	3					cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport	NADPH oxidase complex|stored secretory granule	electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding			endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCACTCGATCTGCCCCATGGC	0.736000													3	8					0	0	1	0	0
AQP8	343	broad.mit.edu	37	16	25238413	25238413	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:25238413G>A	ENST00000219660.5	+	5	752	c.627G>A	c.(625-627)atG>atA	p.M209I	AQP8_ENST00000566125.1_Missense_Mutation_p.M203I	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	209					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GAGGCTGCATGAATCCCGCCC	0.612000													17	40					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123097545	123097545	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:123097545C>T	ENST00000466202.1	-	12	2659	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	IQUB_ENST00000324698.6_Missense_Mutation_p.D695N|RP11-332K15.1_ENST00000419832.1_RNA			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	695										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATGACCAGATCACTGAGATTG	0.468000													45	187					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95560349	95560349	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:95560349G>A	ENST00000526495.1	-	26	5531	c.5240C>T	c.(5239-5241)tCg>tTg	p.S1747L	DICER1_ENST00000556045.1_Missense_Mutation_p.S645L|DICER1_ENST00000541352.1_Missense_Mutation_p.S1747L|DICER1_ENST00000343455.3_Missense_Mutation_p.S1747L|DICER1_ENST00000393063.1_Missense_Mutation_p.S1747L|DICER1_ENST00000527414.1_Missense_Mutation_p.S1747L			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1747	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.S1747L(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TACAGCCAGCGATGCAAAGAT	0.507000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				28	37					0	0	1	0	0
SLC37A4	2542	broad.mit.edu	37	11	118898961	118898961	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:118898961G>A	ENST00000545985.1	-	4	1080	c.324C>T	c.(322-324)ttC>ttT	p.F108F	SLC37A4_ENST00000330775.7_Silent_p.F108F|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Silent_p.F35F|SLC37A4_ENST00000357590.5_Silent_p.F108F	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	108					glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGCCATTAAGGAACCAGAGGG	0.577000													4	8					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3102553	3102553	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:3102553G>A	ENST00000400569.3	-	23	3827	c.3494C>T	c.(3493-3495)cCa>cTa	p.P1165L	MYOM1_ENST00000356443.4_Missense_Mutation_p.P1165L|MYOM1_ENST00000261606.7_Missense_Mutation_p.P1069L			P52179	MYOM1_HUMAN	myomesin 1	1165	Ig-like C2-type 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTCGGACTTTGGAGTCATCTT	0.423000													34	57					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2942185	2942185	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:2942185G>A	ENST00000381130.2	+	6	1025	c.1025G>A	c.(1024-1026)gGg>gAg	p.G342E		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	342						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGCTGGAACGGGATCTACAAA	0.527000													15	12					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71653716	71653716	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:71653716C>T	ENST00000409544.1	+	24	5347	c.4717C>T	c.(4717-4719)Cct>Tct	p.P1573S	ZNF638_ENST00000264447.4_Missense_Mutation_p.P1573S|ZNF638_ENST00000409407.1_Missense_Mutation_p.P513S|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1573					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CAAAAATGTTCCTTTCTCTGA	0.393000													16	27					0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47281944	47281944	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:47281944C>T	ENST00000542575.2	-	5	1674	c.1046G>A	c.(1045-1047)gGg>gAg	p.G349E	SLC1A5_ENST00000434726.2_Missense_Mutation_p.G147E|SLC1A5_ENST00000412532.2_Missense_Mutation_p.G121E|SLC1A5_ENST00000594991.1_Missense_Mutation_p.G173E	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	349					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GGAAGAGGTCCCAAAGGCAGT	0.582000													6	17					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69434069	69434069	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:69434069C>T	ENST00000337103.4	+	5	2060	c.468C>T	c.(466-468)ccC>ccT	p.P156P	C8orf34_ENST00000348340.2_Silent_p.P181P|C8orf34_ENST00000539993.1_Silent_p.P181P|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000518698.1_Silent_p.P267P			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	181					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TTCTGAGGCCCCGTGTGATTG	0.403000													16	27					0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124802771	124802771	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:124802771G>A	ENST00000423114.2	-	14	2194	c.2195C>T	c.(2194-2196)tCc>tTc	p.S732F	SLC12A8_ENST00000314584.7_Missense_Mutation_p.S364F|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000430155.2_Missense_Mutation_p.S504F|SLC12A8_ENST00000393469.4_Missense_Mutation_p.S703F|SLC12A8_ENST00000469902.1_Missense_Mutation_p.S703F			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	703					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GTTCACGAGGGAGGAGTGGTG	0.572000													4	18					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012878	29012878	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:29012878C>T	ENST00000377175.1	-	1	139	c.75G>A	c.(73-75)atG>atA	p.M25I		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTGACAGGATCATCTCCATTT	0.408000													11	87					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149557878	149557878	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:149557878C>T	ENST00000223210.4	+	7	1874	c.1629C>T	c.(1627-1629)ctC>ctT	p.L543L		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						ACACTGCCCTCGTTCCAGAGA	0.488000													10	91					0	0	1	0	0
RBM45	129831	broad.mit.edu	37	2	178981099	178981099	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:178981099G>A	ENST00000286070.5	+	2	503	c.411G>A	c.(409-411)cgG>cgA	p.R137R		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	137	RRM 2.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AAGATCTGCGGGAAAAATTTA	0.368000													4	94					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142641808	142641808	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:142641808C>T	ENST00000355265.2	-	12	1809	c.1335G>A	c.(1333-1335)gcG>gcA	p.A445A		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	445					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.A445A(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CATCCCGGATCGCAGTGAATA	0.602000													4	40					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42227313	42227313	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:42227313G>A	ENST00000541110.1	-	9	2661	c.2093C>T	c.(2092-2094)tCg>tTg	p.S698L	TRERF1_ENST00000340840.2_Missense_Mutation_p.S595L|TRERF1_ENST00000372922.4_Missense_Mutation_p.S678L|TRERF1_ENST00000372917.4_Missense_Mutation_p.S595L|TRERF1_ENST00000354325.2_Missense_Mutation_p.S595L			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	678	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGTGGCGCCCGAGTAGGAGGC	0.687000													14	81					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58135710	58135710	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:58135710C>T	ENST00000357272.4	+	37	6390	c.6225C>T	c.(6223-6225)ttC>ttT	p.F2075F	FLNB_ENST00000348383.5_Silent_p.F2075F|FLNB_ENST00000419752.2_Silent_p.F1895F|FLNB_ENST00000493452.1_Silent_p.F1882F|FLNB_ENST00000490882.1_Silent_p.F2106F|FLNB_ENST00000358537.3_Silent_p.F2051F|FLNB_ENST00000295956.4_Silent_p.F2075F|FLNB_ENST00000429972.2_Silent_p.F2064F			O75369	FLNB_HUMAN	filamin B, beta	2075	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCACCAAATTCGCTGACGAGC	0.552000													75	126					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38647384	38647384	+	RNA	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:38647384C>T	ENST00000494540.1	+	0	255					NR_003086.1																						TCACCATTGTCCAGGTGGATG	0.493000													8	12					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179562619	179562619	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:179562619G>A	ENST00000444136.1	+	3	507	c.257G>A	c.(256-258)gGa>gAa	p.G86E	TDRD5_ENST00000294848.8_Missense_Mutation_p.G86E|TDRD5_ENST00000367614.1_Missense_Mutation_p.G86E	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	86	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			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						TCTACCAAAGGAATAGCAAGC	0.388000													6	35					0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6933619	6933619	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:6933619C>T	ENST00000311268.3	+	2	1342	c.555C>T	c.(553-555)ctC>ctT	p.L185L	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	185						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GCTTCAGCCTCTTGCTACTTG	0.622000													25	75					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48761313	48761313	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:48761313G>A	ENST00000285238.8	+	28	4038	c.3958G>A	c.(3958-3960)Ggg>Agg	p.G1320R		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1320	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CGCCCAGGTGGGGATCGTGGG	0.612000													19	13					0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121305209	121305209	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:121305209C>T	ENST00000334384.3	+	4	720	c.710C>T	c.(709-711)cCt>cTt	p.P237L		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	237						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TACAATCTTCCTGATGAGAAT	0.463000													28	71					0	0	1	0	0
ZDHHC16	84287	broad.mit.edu	37	10	99211590	99211590	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:99211590C>T	ENST00000393760.1	+	3	507	c.158C>T	c.(157-159)tCc>tTc	p.S53F	ZDHHC16_ENST00000352634.4_Missense_Mutation_p.S53F|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.S53F|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.S53F|ZDHHC16_ENST00000370854.3_Missense_Mutation_p.S53F|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.S53F|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.S53F|ZDHHC16_ENST00000495735.1_3'UTR	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	53					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		CTCTACAACTCCTTTGGGGGC	0.602000													21	29					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	30143027	30143027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:30143027G>A	ENST00000389048.3	-	1	1405	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	ALK_ENST00000431873.1_Nonsense_Mutation_p.Q167*	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	167					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGATTGAACTGGAGCAGCCCC	0.657000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				8	47					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306001	54306001	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:54306001G>A	ENST00000545554.1	+	1	901	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	UNC13C_ENST00000537900.1_Missense_Mutation_p.E301K|UNC13C_ENST00000260323.11_Missense_Mutation_p.E301K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	301					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTCTCGGAGGGAAACTAGAGA	0.428000													42	104					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36489156	36489156	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:36489156C>T	ENST00000342292.4	-	10	2035	c.2015G>A	c.(2014-2016)aGc>aAc	p.S672N		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	672						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGGGTCCAGGCTGTGCTCACT	0.612000													3	38					0	0	1	0	0
OOSP2	219990	broad.mit.edu	37	11	59812156	59812156	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:59812156G>A	ENST00000278855.2	+	3	441	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	PLAC1L_ENST00000532905.1_Missense_Mutation_p.E55K	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		86						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						AGTTTCTGAGGAAACTCTCCT	0.403000													16	28					0	0	1	0	0
RANGAP1	5905	broad.mit.edu	37	22	41657540	41657540	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:41657540G>A	ENST00000455915.2	-	5	1994	c.525C>T	c.(523-525)gcC>gcT	p.A175A	RANGAP1_ENST00000356244.3_Silent_p.A175A|RANGAP1_ENST00000405486.1_Silent_p.A175A|RANGAP1_ENST00000407260.4_Intron			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	175					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTTGCCTTGGGCACTGGATT	0.602000													7	161					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48248379	48248379	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:48248379G>A	ENST00000400384.2	+	4	1799	c.763G>A	c.(763-765)Gag>Aag	p.E255K	MAPK4_ENST00000540640.1_Missense_Mutation_p.E44K|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	255	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGACAAGGACGAGCTGCTCAG	0.577000													5	32					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100496107	100496107	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:100496107C>T	ENST00000457717.1	+	2	297	c.41C>T	c.(40-42)tCa>tTa	p.S14L	MTTP_ENST00000422897.2_Missense_Mutation_p.S14L|MTTP_ENST00000265517.5_Missense_Mutation_p.S14L|MTTP_ENST00000511045.1_Intron	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	14					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TTCATTTCCTCATATTCAGCT	0.428000													18	44					0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6093246	6093246	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:6093246G>A	ENST00000217289.4	-	4	1198	c.410C>T	c.(409-411)tCc>tTc	p.S137F	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	137	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CTTTAACAAGGAAAGCTCTTC	0.299000													10	31					0	0	1	0	0
NARFL	64428	broad.mit.edu	37	16	787312	787312	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:787312C>T	ENST00000251588.2	-	3	196	c.180G>A	c.(178-180)agG>agA	p.R60R	NARFL_ENST00000540986.1_5'UTR|NARFL_ENST00000568545.1_5'UTR|NARFL_ENST00000301694.5_Silent_p.R60R	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	60					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				CCTTCTCCAGCCTCCGGGTCC	0.627000													17	92					0	0	1	0	0
FAXC	84553	broad.mit.edu	37	6	99797129	99797129	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:99797129C>T	ENST00000389677.5	-	1	402	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN	failed axon connections homolog (Drosophila)	40																	CGATGATGTCCCCATAAAAGG	0.587000													28	42					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46299167	46299167	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:46299167T>C	ENST00000221538.3	-	6	2256	c.2114A>G	c.(2113-2115)gAg>gGg	p.E705G	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_Missense_Mutation_p.E441G	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ctcctcgccctcctcctcctc	0.592000													4	117					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53994476	53994476	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:53994476G>A	ENST00000396328.1	-	12	1663	c.1424C>T	c.(1423-1425)tCg>tTg	p.S475L	WDR72_ENST00000557913.1_Missense_Mutation_p.S472L|WDR72_ENST00000360509.5_Missense_Mutation_p.S475L|WDR72_ENST00000559418.1_Missense_Mutation_p.S485L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	475										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTCTAATTTCGAAGAGAGACC	0.383000													22	60					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56581523	56581523	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:56581523G>A	ENST00000323456.5	-	14	1668	c.1544C>T	c.(1543-1545)cCc>cTc	p.P515L	MTMR4_ENST00000579925.1_Intron	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	515	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGCTCACAGGGGTTGTTGGC	0.547000													50	68					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77246593	77246593	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:77246593C>T	ENST00000253506.5	+	9	2807	c.2438C>T	c.(2437-2439)tCg>tTg	p.813_813insL	NFATC1_ENST00000545796.1_Missense_Mutation_p.S341L|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000329101.4_Missense_Mutation_p.S800L|NFATC1_ENST00000427363.2_Missense_Mutation_p.S813L|NFATC1_ENST00000397790.2_Missense_Mutation_p.341_341insL|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.800_800insL	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	0	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CACCCCGGCTCGCCCGGGCAG	0.746000													5	19					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147844654	147844654	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:147844654C>T	ENST00000361727.3	+	17	3142	c.2626C>T	c.(2626-2628)Cct>Tct	p.P876S	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	876	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTCACCAACCCCTCTCAACGA	0.552000										HNSCC(39;0.1)			87	73					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7606535	7606535	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:7606535C>T	ENST00000221249.6	+	12	1447	c.1016C>T	c.(1015-1017)cCc>cTc	p.P339L	PNPLA6_ENST00000414982.3_Missense_Mutation_p.P387L|PNPLA6_ENST00000600737.1_Missense_Mutation_p.P378L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.P339L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.P339L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	378					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGGCGGCCACCCGATCCCACC	0.711000													6	11					0	0	1	0	0
VKORC1	79001	broad.mit.edu	37	16	31106780	31106780	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:31106780G>A	ENST00000498155.1	-	1	521	c.200C>T	c.(199-201)tCg>tTg	p.S67L				Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	0					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	GGGATCCAGCGAATACGGCGA	0.552000													3	11					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124757290	124757290	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:124757290G>A	ENST00000306534.3	-	14	2647	c.2162C>T	c.(2161-2163)cCt>cTt	p.P721L	ROBO4_ENST00000533054.1_Missense_Mutation_p.P576L|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	721	Pro/Ser-rich.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGTTTCATGAGGAAAGAGGGG	0.617000													6	50					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698197	195698197	+	RNA	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:195698197C>T	ENST00000427841.1	-	0	1675					NR_003264.2																						CTCTTACCTTCTGCATGCTGA	0.473000													4	18					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27228299	27228299	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:27228299G>A	ENST00000380036.4	+	22	3738	c.3296G>A	c.(3295-3297)cGa>cAa	p.R1099Q	TEK_ENST00000519097.1_Missense_Mutation_p.R951Q|TEK_ENST00000406359.4_Missense_Mutation_p.R1056Q	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1099					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTAGAGGAGCGAAAGGTAAGT	0.408000													11	24					0	0	1	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675132	40675132	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:40675132G>A	ENST00000416151.2	+	1	211	c.96G>A	c.(94-96)cgG>cgA	p.R32R	KNSTRN_ENST00000448395.2_Silent_p.R32R|KNSTRN_ENST00000249776.8_Silent_p.R32R	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		CTAGCTACCGGAAGTTTCTAT	0.577000													39	20					0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17271887	17271887	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:17271887G>A	ENST00000544301.1	+	2	879	c.466G>A	c.(466-468)Gag>Aag	p.E156K	VIM-AS1_ENST00000605833.1_RNA|VIM_ENST00000485947.1_3'UTR|VIM_ENST00000224237.5_Missense_Mutation_p.E156K	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	156	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGAGATGCGGGAGCTGCGCCG	0.642000													3	14					0	0	1	0	0
MNX1	3110	broad.mit.edu	37	7	156802446	156802446	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:156802446G>A	ENST00000252971.6	-	1	899	c.599C>T	c.(598-600)cCc>cTc	p.P200L		NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	200					humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCTTGATGGGGTCGGCGGG	0.726000													21	17					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276366	186276366	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:186276366G>A	ENST00000445192.2	+	7	1560	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E	PRG4_ENST00000367486.3_Silent_p.E462E|PRG4_ENST00000367483.4_Silent_p.E464E|PRG4_ENST00000367485.4_Silent_p.E412E|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	505	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTCCCAAGGAGCCTGCACCCA	0.647000													5	227					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33703487	33703487	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:33703487C>T	ENST00000336934.5	-	5	1443	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K	STARD13_ENST00000255486.4_Missense_Mutation_p.E435K|STARD13_ENST00000399365.3_Missense_Mutation_p.E325K	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	443					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGCCGGGGCTCCCTGGCACCA	0.557000													21	52					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588705	247588705	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:247588705G>A	ENST00000366497.2	+	4	2740	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	NLRP3_ENST00000391828.3_Missense_Mutation_p.E654K|NLRP3_ENST00000336119.3_Missense_Mutation_p.E654K|NLRP3_ENST00000366496.2_Missense_Mutation_p.E654K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.E654K|NLRP3_ENST00000391827.2_Missense_Mutation_p.E654K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	654					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCCCAAGATTGAGATCAATCT	0.498000													11	32					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160784336	160784336	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:160784336C>T	ENST00000263285.5	+	4	887	c.857C>T	c.(856-858)aCa>aTa	p.T286I	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368035.1_5'UTR|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.T246I|LY9_ENST00000341032.4_Missense_Mutation_p.T286I	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	286	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.T286K(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTGTTTAACACATCCATCATT	0.552000													12	95					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136589396	136589396	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:136589396C>T	ENST00000531224.1	-	10	2553	c.2301G>A	c.(2299-2301)aaG>aaA	p.K767K	BCLAF1_ENST00000527536.1_Silent_p.K767K|BCLAF1_ENST00000392348.2_Silent_p.K765K|BCLAF1_ENST00000527759.1_Silent_p.K765K|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000353331.4_Silent_p.K765K|BCLAF1_ENST00000530767.1_Silent_p.K594K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	767					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTTACTCTCCTTTTCTTCTC	0.388000													4	67					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762788	176762788	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:176762788G>A	ENST00000367662.3	+	20	6277	c.5113G>A	c.(5113-5115)Gaa>Aaa	p.E1705K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1705	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCACTGGATGGAACCTGTCAA	0.478000													11	40					0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50387813	50387813	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:50387813C>T	ENST00000221543.5	+	12	1640	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	TBC1D17_ENST00000535102.2_Silent_p.L414L	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	447	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TCATGGAGCTCGTGGTGAGGC	0.587000													23	53					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149247566	149247566	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:149247566C>T	ENST00000407073.1	+	12	4663	c.3666C>T	c.(3664-3666)atC>atT	p.I1222I	MBD5_ENST00000404807.1_Silent_p.I1455I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1222						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAGGCCATATCCACAGTAGTC	0.502000													11	99					0	0	1	0	0
PPIA	5478	broad.mit.edu	37	7	44838999	44838999	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:44838999C>T	ENST00000468812.1	+	3	154	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C	PPIA_ENST00000355968.6_5'UTR|PPIA_ENST00000480603.1_3'UTR|PPIA_ENST00000451562.1_Missense_Mutation_p.R37C|PPIA_ENST00000489459.1_5'UTR	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	37	PPIase cyclophilin-type.				entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|RNA-dependent DNA replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	AGAAAATTTTCGTGCTCTGAG	0.313000													21	69					0	0	1	0	0
PPP1CC	5501	broad.mit.edu	37	12	111160329	111160329	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:111160329A>G	ENST00000335007.5	-	5	885	c.695T>C	c.(694-696)gTt>gCt	p.V232A	PPP1CC_ENST00000550991.1_Missense_Mutation_p.V232A|PPP1CC_ENST00000546933.1_Missense_Mutation_p.V241A|PPP1CC_ENST00000340766.5_Missense_Mutation_p.V232A|PPP1CC_ENST00000551676.1_Missense_Mutation_p.V232A	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme	232					cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|MLL5-L complex|nuclear speck|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|large_intestine(2)|lung(3)	6						AAATTTTGCAACCACTTCTGC	0.408000													14	65					0	0	1	0	0
RBP1	5947	broad.mit.edu	37	3	139237343	139237343	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:139237343C>T	ENST00000232219.2	-	3	570	c.460G>A	c.(460-462)Gac>Aac	p.D154N	RP11-319G6.1_ENST00000515247.1_RNA	NM_002899.3	NP_002890.2	P09455	RET1_HUMAN	retinol binding protein 1, cellular	92						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	TGGAGCTTGTCTCCGTCCCAG	0.607000													21	20					0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89245904	89245904	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:89245904C>T	ENST00000289746.2	+	2	188	c.123C>T	c.(121-123)agC>agT	p.S41S	CDH15_ENST00000521087.1_3'UTR	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	41					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CTGCCCTGAGCCGCGTGCGGA	0.672000													18	69					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67508502	67508502	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:67508502G>A	ENST00000382713.5	+	8	1069	c.879G>A	c.(877-879)aaG>aaA	p.K293K		NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	293							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GTTCGTCAAAGATGTCTCGTG	0.483000													19	87					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108812287	108812287	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:108812287C>T	ENST00000232603.5	-	8	767	c.685G>A	c.(685-687)Gag>Aag	p.E229K	MORC1_ENST00000483760.1_Missense_Mutation_p.E229K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	229					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACATACTCCTCCAGAGCTCCA	0.433000													15	22					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42446602	42446602	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:42446602C>T	ENST00000381668.5	-	32	3239	c.3008G>A	c.(3007-3009)tGg>tAg	p.W1003*	ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.W988*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1003					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TACCCATGTCCAATATGATGT	0.358000													6	12					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84560104	84560104	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:84560104C>T	ENST00000286744.5	+	12	1459	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P412L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	412						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			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)			GAGATAATGCCCTATGACCAC	0.313000													20	49					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72828274	72828274	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:72828274G>A	ENST00000268489.5	-	9	8979	c.8307C>T	c.(8305-8307)agC>agT	p.S2769S	ZFHX3_ENST00000397992.5_Silent_p.S1855S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2769					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGTGGGAAAAGCTAGTTCCGT	0.493000													17	40					0	0	1	0	0
RBM15B	29890	broad.mit.edu	37	3	51431476	51431476	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:51431476G>A	ENST00000323686.4	+	1	2746	c.2646G>A	c.(2644-2646)gtG>gtA	p.V882V		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	882	Interaction with Epstein-Barr virus BMLF1.|SPOC.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AACACATGGTGATAGTCATCG	0.498000													11	59					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73461949	73461949	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:73461949C>T	ENST00000224721.6	+	22	2588	c.2583C>T	c.(2581-2583)atC>atT	p.I861I	CDH23_ENST00000299366.7_Silent_p.I901I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	856	Cadherin 8.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGCGCAAAATCGTCGTCTCTG	0.642000													25	89					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682549	100682549	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:100682549G>T	ENST00000306151.4	+	3	7916	c.7852G>T	c.(7852-7854)Gca>Tca	p.A2618S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2618	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTACAACTGCAAAAGATAC	0.468000													109	333					1.44639e-49	1.48863e-49	1	1	0
MID2	11043	broad.mit.edu	37	X	107169997	107169997	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:107169997C>T	ENST00000262843.6	+	10	2450	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Silent_p.F604F	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	634	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						ATAGTAACTTCGTGGTGAGAC	0.473000													18	35					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14823185	14823185	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:14823185G>A	ENST00000380881.4	-	14	3128	c.2313C>T	c.(2311-2313)atC>atT	p.I771I	FREM1_ENST00000422223.2_Silent_p.I770I|FREM1_ENST00000380880.3_Silent_p.I770I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	770					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCACTGGGAGGATTGTAATGT	0.418000													12	46					0	0	1	0	0
UGT2A2	574537	broad.mit.edu	37	4	70505136	70505136	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:70505136C>T	ENST00000457664.2	-	1	222	c.223G>A	c.(223-225)Gat>Aat	p.D75N	UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.D276N|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000512704.1_Intron	NM_001105677.2	NP_001099147.2																					ACAGGAGAATCGGGATTGGAG	0.353000													14	86					0	0	1	0	0
EFNB3	1949	broad.mit.edu	37	17	7612692	7612692	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:7612692C>T	ENST00000226091.2	+	5	1218	c.821C>T	c.(820-822)tCt>tTt	p.S274F		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	274					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				AGGGGAGGGTCTCTGGGCCTG	0.716000													5	19					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54913090	54913090	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:54913090G>A	ENST00000293373.6	+	16	1678	c.1599G>A	c.(1597-1599)gtG>gtA	p.V533V	NCKAP1L_ENST00000545638.2_Silent_p.V483V	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	533					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AATTGCTGGTGGAAACTTCTG	0.428000													27	36					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50413426	50413426	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:50413426C>T	ENST00000435965.1	-	19	1914	c.1741G>A	c.(1741-1743)Gat>Aat	p.D581N	CACNA2D2_ENST00000479441.1_Missense_Mutation_p.D581N|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.D581N|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.D581N|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.D581N|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.D512N|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.D581N|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.D581N			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	581					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	AGCTCCGCATCCAGGAAGTCC	0.592000													24	48					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116335243	116335243	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:116335243C>T	ENST00000533213.2	-	3	616	c.315G>A	c.(313-315)gtG>gtA	p.V105V	ABLIM1_ENST00000277895.5_Silent_p.V165V|ABLIM1_ENST00000369252.4_Silent_p.V105V			O14639	ABLM1_HUMAN	actin binding LIM protein 1	165	LIM zinc-binding 1.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTTCGCCCTCCACGAACTCCC	0.537000													10	62					0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100551373	100551373	+	RNA	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:100551373C>T	ENST00000397112.4	-	0	1825					NR_036632.1															large_intestine(1)|lung(3)	4						ACCCCCAGTTCTTGGGGCTGG	0.642000													20	45					0	0	1	0	0
ALKBH4	54784	broad.mit.edu	37	7	102100168	102100168	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:102100168G>T	ENST00000292566.3	-	2	243	c.204C>A	c.(202-204)ttC>ttA	p.F68L		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	68						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						CTGGGAAGGGGAAGGCCCAGC	0.572000													17	164					1.67942e-08	1.70653e-08	1	1	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802820	31802820	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr21:31802820C>T	ENST00000334068.2	+	1	249	c.227C>T	c.(226-228)cCc>cTc	p.P76L		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	76	4 X 10 AA approximate repeats.					intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CTCTGCTGTCCCTGTCAGACG	0.597000													29	37					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80739555	80739555	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:80739555C>T	ENST00000355528.4	+	7	859	c.729C>T	c.(727-729)acC>acT	p.T243T	TBCD_ENST00000539345.2_Silent_p.T243T|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	243					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCTTCCAGACCATGCAGGGGG	0.577000											OREG0024827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	52					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524267	112524267	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:112524267G>A	ENST00000369697.1	-	1	1151	c.1082C>T	c.(1081-1083)aCc>aTc	p.T361I	KCND3_ENST00000315987.2_Missense_Mutation_p.T361I|KCND3_ENST00000302127.4_Missense_Mutation_p.T361I			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	361						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGTGACAATGGTGTACCAAAA	0.542000													21	35					0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99169312	99169312	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:99169312C>T	ENST00000074304.5	+	15	1635	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	INPP4A_ENST00000545415.1_Silent_p.I414I|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.3_Silent_p.I414I|INPP4A_ENST00000409851.3_Silent_p.I409I|INPP4A_ENST00000523221.1_Silent_p.I414I|INPP4A_ENST00000409540.3_Silent_p.I414I	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	414					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CCAAGGAGATCATCGCCCAGA	0.512000													10	11					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218712777	218712777	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:218712777G>A	ENST00000171887.4	-	17	2540	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F	TNS1_ENST00000430930.1_Silent_p.F696F|TNS1_ENST00000419504.1_Silent_p.F696F	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	696						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTGCTCGCGGGAACTCAGGGA	0.607000													16	45					0	0	1	0	0
WNT3	7473	broad.mit.edu	37	17	44851076	44851076	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:44851076T>A	ENST00000225512.5	-	2	442	c.280A>T	c.(280-282)Ata>Tta	p.I94L		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	94					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CTGTCATCTATGGTGGTGCAG	0.652000													22	36					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87772372	87772372	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:87772372A>C	ENST00000398204.4	+	15	1575	c.1252A>C	c.(1252-1254)Aat>Cat	p.N418H	ADAM22_ENST00000398209.3_Missense_Mutation_p.N418H|ADAM22_ENST00000315984.7_Missense_Mutation_p.N418H|ADAM22_ENST00000265727.7_Missense_Mutation_p.N418H|ADAM22_ENST00000398201.4_Missense_Mutation_p.N418H	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	418	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CACCCAGTGTAATATTGAAGA	0.348000													26	70					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103207112	103207112	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:103207112G>A	ENST00000424685.2	-	32	4842	c.4683C>T	c.(4681-4683)tcC>tcT	p.S1561S	RELN_ENST00000343529.5_Silent_p.S1561S|RELN_ENST00000428762.1_Silent_p.S1561S			P78509	RELN_HUMAN	reelin	1561					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCAGGTCAATGGAAATGATCT	0.478000													47	46					0	0	1	0	0
NXPH3	11248	broad.mit.edu	37	17	47656328	47656328	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:47656328G>A	ENST00000328741.5	+	2	787	c.425G>A	c.(424-426)gGa>gAa	p.G142E	NXPH3_ENST00000513748.1_Missense_Mutation_p.G142E	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	142	III.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					ACAGGCCAGGGAAACATCTCC	0.542000													10	49					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66468611	66468611	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:66468611G>A	ENST00000533211.1	-	17	3290	c.2959C>T	c.(2959-2961)Cta>Tta	p.L987L	SPTBN2_ENST00000529997.1_Silent_p.L987L|SPTBN2_ENST00000309996.2_Silent_p.L987L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	987					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCGTTGCCTAGGCCCTGGGTG	0.647000													15	46					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321427	52321427	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:52321427G>A	ENST00000356297.4	-	17	2857	c.2757C>T	c.(2755-2757)ctC>ctT	p.L919L	PXDNL_ENST00000543296.1_Silent_p.L919L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	919					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.L919L(1)|p.L118L(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGTCTTCAGGAGACCCCGAG	0.607000													9	30					0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	A	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:15323276A>T	ENST00000455308.2	-	0	572					NR_027417.1																						ATCAACTGCAATTGCATTTGC	0.308000													6	9					0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3330465	3330465	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:3330465C>A	ENST00000382004.3	-	5	579	c.268G>T	c.(268-270)Gga>Tga	p.G90*	RFX3_ENST00000358730.2_Nonsense_Mutation_p.G90*|RFX3_ENST00000302303.1_Nonsense_Mutation_p.G90*	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	90					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TAATTCCCTCCAGTATTTTGG	0.448000													23	32					5.35356e-11	5.46522e-11	1	1	0
MYOM2	9172	broad.mit.edu	37	8	2048778	2048778	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:2048778C>T	ENST00000262113.4	+	20	2694	c.2553C>T	c.(2551-2553)ttC>ttT	p.F851F	MYOM2_ENST00000523438.1_Silent_p.F276F	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	851	Fibronectin type-III 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCGTGGACTTCAGGGAGGAGG	0.537000													23	41					0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58314181	58314181	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:58314181C>T	ENST00000219301.4	-	7	1529	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	CCDC113_ENST00000219299.4_3'UTR|PRSS54_ENST00000543437.1_Missense_Mutation_p.E280K|PRSS54_ENST00000567164.1_Missense_Mutation_p.E379K|CCDC113_ENST00000443128.2_3'UTR	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	379					proteolysis	extracellular region	serine-type endopeptidase activity	p.E379K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGATTTCTTCGGGCTGATAC	0.473000													7	27					0	0	1	0	0
NMD3	51068	broad.mit.edu	37	3	160968655	160968655	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:160968655C>T	ENST00000460469.1	+	15	1924	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	NMD3_ENST00000351193.2_Missense_Mutation_p.S490F|NMD3_ENST00000472947.1_Missense_Mutation_p.S490F			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	490	Necessary for the nuclear export of the 60S ribosomal subunit.				protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CTTCATATTTCCCAAGATGCC	0.428000													14	53					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													5	39					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5021084	5021084	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:5021084C>T	ENST00000321543.1	+	1	872	c.872C>T	c.(871-873)cCt>cTt	p.P291L		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCCTTAACCCTATTGTCTAT	0.458000													18	42					0	0	1	0	0
TBCEL	219899	broad.mit.edu	37	11	120929178	120929178	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:120929178C>T	ENST00000422003.2	+	6	1025	c.837C>T	c.(835-837)gcC>gcT	p.A279A	TBCEL_ENST00000529397.1_Silent_p.A279A	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	279	LRRCT.					cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TGGTAATAGCCAGGTCTGTTG	0.378000													14	79					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21728868	21728868	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:21728868G>A	ENST00000261195.2	-	3	681	c.427C>T	c.(427-429)Cct>Tct	p.P143S		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	143					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCATGATAAGGAATGCCGACA	0.428000													37	72					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572572	140572572	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:140572572G>A	ENST00000239446.4	+	1	631	c.447G>A	c.(445-447)ggG>ggA	p.G149G		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		149	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCTGAAGGGACAGCATTTA	0.408000													45	51					0	0	1	0	0
TRH	7200	broad.mit.edu	37	3	129694683	129694683	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:129694683C>T	ENST00000302649.3	+	2	551	c.24C>T	c.(22-24)ctC>ctT	p.L8L	TRH_ENST00000507066.1_Silent_p.L8L	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	8			L -> V (in dbSNP:rs5658).		cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						GGTTGCTGCTCGCTCTGGCTT	0.701000													6	14					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44792335	44792335	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:44792335A>C	ENST00000291182.4	-	5	1355	c.1253T>G	c.(1252-1254)cTt>cGt	p.L418R	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				ATGGGCCTGAAGATGTGATCT	0.423000													17	39					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19504138	19504138	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:19504138C>T	ENST00000407835.1	+	17	1785	c.1529C>T	c.(1528-1530)cCc>cTc	p.P510L	CDC45_ENST00000437685.2_Missense_Mutation_p.P542L|CDC45_ENST00000263201.1_Missense_Mutation_p.P510L|CDC45_ENST00000404724.3_Missense_Mutation_p.P464L			O75419	CDC45_HUMAN	cell division cycle 45	510					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GTGGGCATCCCCCCAGAGACC	0.617000													26	37					0	0	1	0	0
TTC39C	125488	broad.mit.edu	37	18	21698135	21698135	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:21698135C>T	ENST00000540918.2	+	3	454	c.204C>T	c.(202-204)tcC>tcT	p.S68S	RP11-799B12.2_ENST00000583782.1_RNA|TTC39C_ENST00000317571.3_Silent_p.S375S|TTC39C_ENST00000304621.6_Silent_p.S314S			Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	375							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						CATTTGATTCCTTTGAGAGGC	0.458000													16	57					0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31331242	31331242	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:31331242G>A	ENST00000215862.4	-	19	2982	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	MORC2_ENST00000397641.2_Missense_Mutation_p.S602F	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	602							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CACCTCAGTGGAAGGTCTGGT	0.512000													7	3					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542712	14542712	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:14542712C>T	ENST00000358970.5	-	1	433	c.434G>A	c.(433-435)aGa>aAa	p.R145K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	145										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCAGGCAGCTCTGTGGAGCTT	0.582000													25	145					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108334142	108334142	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:108334142G>A	ENST00000520734.1	-	3	475	c.190C>T	c.(190-192)Ctt>Ttt	p.L64F	ANGPT1_ENST00000520052.1_Missense_Mutation_p.L64F|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	264					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTAGTGCAAAGATTGACAAGG	0.393000													9	51					0	0	1	0	0
RCL1	10171	broad.mit.edu	37	9	4834165	4834165	+	Missense_Mutation	SNP	G	G	A	rs148074533	byFrequency	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:4834165G>A	ENST00000381750.4	+	5	707	c.484G>A	c.(484-486)Gga>Aga	p.G162R		NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	162					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		AATGCCTCCCGGAGGAGGAGG	0.512000													6	31					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119732141	119732141	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:119732141G>A	ENST00000541757.1	+	7	759	c.379_splice	c.e7+1	p.G127_splice	MARCO_ENST00000327097.4_Splice_Site_p.G205_splice			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	205					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGGAGAGGCGGGTGAGTAGGT	0.567000													6	19					0	0	1	0	0
ZIC2	7546	broad.mit.edu	37	13	100635317	100635317	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:100635317C>T	ENST00000376335.3	+	1	1292	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	333					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGAAACCCTTCCCCTGCCCCT	0.612000													41	78					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108337254	108337254	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:108337254C>A	ENST00000263054.6	-	26	3438	c.3431G>T	c.(3430-3432)cGa>cTa	p.R1144L	SORCS1_ENST00000369698.1_3'UTR|SORCS1_ENST00000344440.6_Intron	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1144						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCTTTGCAATCGGAGAGATGA	0.507000													15	54					1.52009e-12	1.5554e-12	1	1	0
RPL38	6169	broad.mit.edu	37	17	72205447	72205447	+	Splice_Site	SNP	C	C	T	rs139896940	byFrequency	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:72205447C>T	ENST00000311111.6	+	4	317	c.187_splice	c.e4+1	p.P62_splice	RPL38_ENST00000534490.1_Silent_p.P62P|RPL38_ENST00000584577.1_Splice_Site_p.P62_splice|RPL38_ENST00000439590.2_Splice_Site_p.P62_splice|RPL38_ENST00000533498.1_Splice_Site_p.P62_splice			P63173	RL38_HUMAN	ribosomal protein L38	62					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	p.P62P(1)		large_intestine(1)|pancreas(1)	2						CCCTGCCCCCCGGTGAGTGAG	0.502000													11	45					0	0	1	0	0
ZNF595	152687	broad.mit.edu	37	4	60034	60034	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:60034G>A	ENST00000509152.2	+	3	399	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.A72T					zinc finger protein 595									p.A72T(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TGAGACAGCAGCCAAACCCCC	0.473000													10	113					0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102762446	102762446	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:102762446C>T	ENST00000370220.1	+	1	3214	c.151C>T	c.(151-153)Cct>Tct	p.P51S	LZTS2_ENST00000370223.3_Missense_Mutation_p.P51S			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	51	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CCACGGCCCTCCTGGGCCCAC	0.687000													17	54					0	0	1	0	0
MAS1	4142	broad.mit.edu	37	6	160328083	160328083	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:160328083C>T	ENST00000252660.4	+	1	110	c.96C>T	c.(94-96)atC>atT	p.I32I		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	32					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		ATCGGCAAATCCCCATCGTGC	0.512000													33	58					0	0	1	0	0
GJB6	10804	broad.mit.edu	37	13	20797527	20797527	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:20797527G>A	ENST00000356192.6	-	5	713	c.93C>T	c.(91-93)ttC>ttT	p.F31F	GJB6_ENST00000400065.3_Silent_p.F31F|GJB6_ENST00000241124.6_Silent_p.F31F|GJB6_ENST00000400066.3_Silent_p.F31F	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	31					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TCATGACTCGGAAAATAAAGA	0.542000													42	84					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133759902	133759902	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:133759902C>T	ENST00000318560.5	+	11	2606	c.2225C>T	c.(2224-2226)tCc>tTc	p.S742F		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	742					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GACTTGCAGTCCACGGGAAGA	0.617000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								10	29					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81654585	81654585	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:81654585C>T	ENST00000558726.1	-	4	505	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	TMC3_ENST00000359440.5_Missense_Mutation_p.E124K			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	124						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATCCTCATTTCCCAGGGAATG	0.483000													5	12					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81422151	81422151	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:81422151G>A	ENST00000541158.2	+	2	449	c.127G>A	c.(127-129)Gat>Aat	p.D43N	TSHR_ENST00000554435.1_Missense_Mutation_p.D43N|TSHR_ENST00000554263.1_Missense_Mutation_p.D43N|TSHR_ENST00000298171.2_Missense_Mutation_p.D43N|TSHR_ENST00000342443.6_Missense_Mutation_p.D43N|TSHR_ENST00000557096.1_3'UTR			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	43					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CACCTGCAAGGATATTCAACG	0.602000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						53	77					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382676	22382676	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:22382676C>T	ENST00000328795.4	+	1	295	c.204C>T	c.(202-204)ttC>ttT	p.F68F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACTTGGCCTTCCTGGATGCAT	0.483000													54	251					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7476893	7476893	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:7476893A>C	ENST00000399422.4	+	10	1381	c.1333A>C	c.(1333-1335)Acg>Ccg	p.T445P		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	445					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						AACTGCTGCCACGATAAGAGG	0.453000													12	10					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39358849	39358849	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:39358849G>A	ENST00000280481.7	+	6	6139	c.5923G>A	c.(5923-5925)Gaa>Aaa	p.E1975K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1975	Calx-beta 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CGAGGAGGAGGAAACCTTCCA	0.498000													14	44					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				38	48					0	0	1	0	0
C7orf34	135927	broad.mit.edu	37	7	142637553	142637553	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:142637553T>C	ENST00000409607.3	+	2	364	c.323T>C	c.(322-324)gTt>gCt	p.V108A		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	83						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					ACGGCAGCTGTTCACAAGCAC	0.542000													8	222					0	0	1	0	0
RIMKLA	284716	broad.mit.edu	37	1	42865134	42865134	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:42865134C>T	ENST00000431473.3	+	2	352	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	75					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TGTACGGGTACCCACACCCTC	0.557000													11	10					0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24545621	24545621	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:24545621G>A	ENST00000397016.2	+	13	1422	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	CPNE6_ENST00000537691.1_Missense_Mutation_p.E426K|CPNE6_ENST00000216775.2_Missense_Mutation_p.E371K			O95741	CPNE6_HUMAN	copine VI (neuronal)	371	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCCCAACTTCGAGGTAGGCTA	0.597000													29	103					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36793129	36793129	+	Silent	SNP	T	T	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:36793129T>C	ENST00000399881.3	+	27	3178	c.3141T>C	c.(3139-3141)aaT>aaC	p.N1047N		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1047						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATAAAAGGAATGAAGAGTTCT	0.418000													40	57					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116975592	116975592	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:116975592G>A	ENST00000355044.3	+	9	1612	c.1486G>A	c.(1486-1488)Gga>Aga	p.G496R		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	496						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GAACAAATATGGATTGGTTGA	0.318000													14	16					0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59404997	59404997	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:59404997C>G	ENST00000301645.3	-	5	1267	c.1130G>C	c.(1129-1131)gGt>gCt	p.G377A		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	377					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GTTGTAGGAACCGTCCTCAAG	0.453000									Neonatal Giant Cell Hepatitis				25	49					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18292236	18292236	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:18292236G>A	ENST00000377369.2	+	12	2169	c.1896G>A	c.(1894-1896)tgG>tgA	p.W632*	SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.W631*|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.W595*|SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.W498*|SLC39A12-AS1_ENST00000439319.1_RNA	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	632					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTCAAGACTGGATCTTCACAG	0.398000													5	84					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52406053	52406053	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:52406053C>T	ENST00000420323.2	+	42	6878	c.6617C>T	c.(6616-6618)aCc>aTc	p.T2206I		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2206	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCATGGACACCGTGCAGATG	0.562000													31	71					0	0	1	0	0
STAU2	27067	broad.mit.edu	37	8	74585419	74585419	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:74585419G>A	ENST00000355780.5	-	5	455	c.237C>T	c.(235-237)gcC>gcT	p.A79A	STAU2_ENST00000524104.1_Silent_p.A79A|STAU2_ENST00000522695.1_Silent_p.A79A|STAU2_ENST00000521727.1_Silent_p.A91A|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000521419.1_Silent_p.A73A|STAU2_ENST00000519961.1_Silent_p.A111A|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000524300.1_Silent_p.A111A|STAU2_ENST00000521210.1_Silent_p.A7A|STAU2_ENST00000517542.1_Silent_p.A73A|STAU2_ENST00000521451.1_Intron|STAU2_ENST00000522509.1_Silent_p.A79A	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	111					transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GCCTGTAGATGGCAGGCTCTC	0.388000													15	35					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137488311	137488311	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:137488311C>T	ENST00000254900.5	-	21	3087	c.2716G>A	c.(2716-2718)Gat>Aat	p.D906N		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	906					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCCTCTGGATCCTCAGTTTCC	0.537000													18	545					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323920	31323920	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:31323920C>T	ENST00000269197.5	+	12	4108	c.4108C>T	c.(4108-4110)Cct>Tct	p.P1370S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAACAGATTTCCTTCTGAGAA	0.498000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	101					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79707983	79707983	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:79707983G>A	ENST00000275034.4	-	18	2172	c.2005C>T	c.(2005-2007)Cgt>Tgt	p.R669C		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	669					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTACTTAAACGGCTGGTATTA	0.378000													7	36					0	0	1	0	0
ZCCHC3	85364	broad.mit.edu	37	20	278715	278715	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:278715A>G	ENST00000382352.3	+	1	979	c.488A>G	c.(487-489)aAg>aGg	p.K163R		NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	163							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			ggcccgggcAAGGGTCGCTTC	0.751000													3	2					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30961171	30961171	+	Silent	SNP	T	T	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr21:30961171T>C	ENST00000399914.1	-	10	2033	c.1512A>G	c.(1510-1512)gaA>gaG	p.E504E	GRIK1_ENST00000535441.1_Silent_p.E521E|GRIK1_ENST00000399913.1_Silent_p.E519E|GRIK1_ENST00000389125.3_Silent_p.E504E|GRIK1_ENST00000399909.1_Silent_p.E504E|GRIK1_ENST00000327783.4_Silent_p.E519E|GRIK1_ENST00000389124.2_Silent_p.E519E|GRIK1_ENST00000399907.1_Silent_p.E519E|GRIK1_ENST00000309434.7_Silent_p.E521E			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	519					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GATCTATGAGTTCTTTAACCA	0.363000													14	62					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42259355	42259355	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:42259355C>T	ENST00000379310.3	-	35	4223	c.4155G>A	c.(4153-4155)tgG>tgA	p.W1385*		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		ATGGTCTCTTCCAAGAATAAA	0.383000													8	21					0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39883631	39883631	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:39883631C>T	ENST00000341184.6	+	2	494	c.279C>T	c.(277-279)ctC>ctT	p.L93L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	93					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCGAGGAGCTCCACCGGGTGG	0.687000													17	46					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823556	38823556	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:38823556C>T	ENST00000303592.3	-	2	840	c.582G>A	c.(580-582)tcG>tcA	p.S194S		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	194					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CGTCGCGCACCGAAATGACCG	0.632000													18	68					0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55597236	55597236	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:55597236G>A	ENST00000201647.6	+	15	1469	c.1413G>A	c.(1411-1413)gaG>gaA	p.E471E	EPS8L1_ENST00000586329.1_Silent_p.E485E|EPS8L1_ENST00000588359.1_Silent_p.E157E|EPS8L1_ENST00000540810.1_Silent_p.E407E|EPS8L1_ENST00000245618.5_Silent_p.E344E	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	471						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGAATCTGAGCCTCAGCTGG	0.582000													29	44					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61449759	61449759	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:61449759C>T	ENST00000398019.2	+	2	478	c.153C>T	c.(151-153)ctC>ctT	p.L51L	SERPINB7_ENST00000540675.1_Silent_p.L51L|SERPINB7_ENST00000546027.1_Silent_p.L51L|SERPINB7_ENST00000336429.2_Silent_p.L51L	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	51					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				ATGACTCCCTCTCTCAGATTG	0.473000													12	49					0	0	1	0	0
GALK2	2585	broad.mit.edu	37	15	49584706	49584706	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:49584706C>T	ENST00000327171.3	+	8	1138	c.906C>T	c.(904-906)acC>acT	p.T302T	GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000543495.1_Silent_p.T184T|GALK2_ENST00000544523.1_Silent_p.T289T|GALK2_ENST00000560031.1_Silent_p.T313T|GALK2_ENST00000559454.1_Silent_p.T289T|GALK2_ENST00000396509.2_Silent_p.T289T	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2	313					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		AACTCCGAACCCAAATCCTGA	0.458000													12	29					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108652248	108652248	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:108652248T>A	ENST00000218006.2	-	9	2232	c.1941A>T	c.(1939-1941)aaA>aaT	p.K647N		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	647	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AGAGTGATGATTTAAACATCC	0.373000													30	18					0	0	1	0	0
KLK7	5650	broad.mit.edu	37	19	51485640	51485640	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:51485640G>C	ENST00000391807.1	-	2	117	c.16C>G	c.(16-18)Ctc>Gtc	p.L6V	KLK7_ENST00000595638.1_5'UTR|KLK7_ENST00000336317.4_5'UTR|KLK7_ENST00000595820.1_Missense_Mutation_p.L6V|KLK7_ENST00000597707.1_Intron|CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	6					epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		AGGGGCAGGAGAAGGGATCTT	0.597000													4	5					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79030010	79030010	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:79030010G>A	ENST00000446378.2	+	2	5453	c.5422G>A	c.(5422-5424)Gaa>Aaa	p.E1808K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1808						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGTATAACAGAACCATCAAA	0.383000													69	46					0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32239170	32239170	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:32239170C>T	ENST00000382142.3	-	13	1451	c.1281G>A	c.(1279-1281)tgG>tgA	p.W427*	MTMR12_ENST00000280285.5_Nonsense_Mutation_p.W427*|MTMR12_ENST00000264934.5_Nonsense_Mutation_p.W427*	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	427	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CACCCATGACCCACTCCTTTT	0.537000													14	19					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101232520	101232520	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:101232520C>T	ENST00000388798.2	+	13	1740	c.1549C>T	c.(1549-1551)Cat>Tat	p.H517Y	SPAG1_ENST00000251809.3_Missense_Mutation_p.H517Y|SPAG1_ENST00000523302.1_Intron	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	517					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TCTGGAACTTCATCCATTCTC	0.378000													29	54					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167805696	167805696	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:167805696G>A	ENST00000367848.1	-	23	3381	c.2884C>T	c.(2884-2886)Cct>Tct	p.P962S	ADCY10_ENST00000367851.4_Missense_Mutation_p.P1054S|ADCY10_ENST00000545172.1_Missense_Mutation_p.P901S|ADCY10_ENST00000485964.1_Intron			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1054					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GATTCCAGAGGGATAATGTCT	0.383000													9	54					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234887	21234887	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:21234887G>A	ENST00000233242.1	-	26	4980	c.4853C>T	c.(4852-4854)tCa>tTa	p.S1618L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1618					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGAATTTAGTGATCCAGAAAG	0.428000													14	22					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431584	117431584	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:117431584G>A	ENST00000160373.3	-	4	1757	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	556	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGTGGAGAAGGAGTTTGGGAG	0.507000													5	152					0	0	1	0	0
GFRA2	2675	broad.mit.edu	37	8	21608287	21608287	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:21608287C>T	ENST00000524240.1	-	4	1257	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	GFRA2_ENST00000400782.4_Missense_Mutation_p.A98T|GFRA2_ENST00000517328.1_Missense_Mutation_p.A203T|GFRA2_ENST00000518077.1_Missense_Mutation_p.A70T	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	203						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TGGCGCAGGGCCTTGTGGCAC	0.637000													12	78					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534686	55534686	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:55534686C>A	ENST00000220676.1	+	3	773	c.625C>A	c.(625-627)Ctc>Atc	p.L209I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	209	Doublecortin 2.				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			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)			GGTTCCCAGCCTCCAGGCAGT	0.433000													3	24					0.150653	0.150653	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105412631	105412631	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:105412631C>T	ENST00000333244.5	-	7	9276	c.9157G>A	c.(9157-9159)Gag>Aag	p.E3053K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3053						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCAGCTCCCTCGGGAACGTGG	0.607000													34	122					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849580	73849580	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:73849580G>A	ENST00000523207.1	+	3	2578	c.1990G>A	c.(1990-1992)Gat>Aat	p.D664N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	664					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGCTGCCAGGGATGGCACGCT	0.557000													17	64					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381226	147381226	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:147381226G>A	ENST00000240986.4	+	2	1197	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	GJA8_ENST00000369235.1_Missense_Mutation_p.E382K	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	382					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TAAGGAGGGTGAAAAAGAAGA	0.572000													6	21					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885774	24885774	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:24885774C>T	ENST00000382554.3	+	9	5137	c.4819C>T	c.(4819-4821)Ccc>Tcc	p.P1607S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1607					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GTCCCCATGGCCCCTCAGGTC	0.557000													10	23					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69100279	69100279	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:69100279C>T	ENST00000332644.5	-	5	532	c.371G>A	c.(370-372)gGa>gAa	p.G124E		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	124	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CATGCTAACTCCTTCTGCTGG	0.388000													18	48					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24952547	24952547	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:24952547C>G	ENST00000405141.1	+	18	3775	c.3064C>G	c.(3064-3066)Cct>Gct	p.P1022A	NCOA1_ENST00000406961.1_Missense_Mutation_p.P1022A|NCOA1_ENST00000407230.1_Missense_Mutation_p.P871A|NCOA1_ENST00000395856.3_Missense_Mutation_p.P1022A|NCOA1_ENST00000348332.3_Missense_Mutation_p.P1022A|NCOA1_ENST00000288599.5_Missense_Mutation_p.P1022A|NCOA1_ENST00000538539.1_Missense_Mutation_p.P1022A			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1022									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGACGATGCCTGTTCAAGT	0.537000			T	PAX3	alveolar rhadomyosarcoma								44	69					0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288700	125288700	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:125288700C>T	ENST00000304880.2	-	1	872	c.873G>A	c.(871-873)agG>agA	p.R291R		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGTCCTTGTTCCTTAGGCTAT	0.463000													5	23					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580516	7580516	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:7580516C>T	ENST00000379802.3	+	23	4434	c.4093C>T	c.(4093-4095)Cag>Tag	p.Q1365*	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1365	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTTAAAAAATCAGTTTGAGAC	0.458000													50	49					0	0	1	0	0
LEP	3952	broad.mit.edu	37	7	127894505	127894505	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:127894505G>A	ENST00000308868.4	+	3	244	c.193G>A	c.(193-195)Ggg>Agg	p.G65R		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	65					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						CTTCATTCCTGGGCTCCACCC	0.512000													47	179					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8807842	8807842	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:8807842C>T	ENST00000324436.3	-	1	1330	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	404						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCCTGTTCCTCGTACTGCTCC	0.637000													32	47					0	0	1	0	0
EGLN1	54583	broad.mit.edu	37	1	231509749	231509749	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:231509749G>A	ENST00000366641.3	-	2	4143	c.988C>T	c.(988-990)Ctt>Ttt	p.L330F	EGLN1_ENST00000476717.1_5'UTR	NM_022051.2	NP_071334.1	Q9GZT9	EGLN1_HUMAN	egl-9 family hypoxia-inducible factor 1	330	Fe2OG dioxygenase.				negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	TCTTTATTAAGATAATATATA	0.363000													8	25					0	0	1	0	0
DHFRL1	200895	broad.mit.edu	37	3	93780086	93780086	+	Silent	SNP	A	A	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:93780086A>T	ENST00000394221.2	-	2	719	c.270T>A	c.(268-270)ctT>ctA	p.L90L	DHFRL1_ENST00000481631.1_Intron|DHFRL1_ENST00000314636.2_Silent_p.L90L	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	90	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						AACTTCTGGCAAGAAAATGAG	0.393000													28	82					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14964645	14964645	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:14964645G>A	ENST00000285046.5	+	16	4010	c.3900G>A	c.(3898-3900)ctG>ctA	p.L1300L	FGD5_ENST00000543601.1_Silent_p.L1059L|FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1300					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCGGGGAGCTGAAGAAGCGGG	0.627000													14	18					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394323	233394323	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:233394323G>A	ENST00000258229.8	-	5	1519	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	429						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTGATTACAGGAATTGAGATC	0.577000													44	84					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430082	135430082	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:135430082C>A	ENST00000394143.1	+	6	4508	c.4217C>A	c.(4216-4218)tCt>tAt	p.S1406Y	GPR112_ENST00000370652.1_Missense_Mutation_p.S1406Y|GPR112_ENST00000394141.1_Missense_Mutation_p.S1201Y|GPR112_ENST00000412101.1_Missense_Mutation_p.S1201Y|GPR112_ENST00000287534.4_Missense_Mutation_p.S1343Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1406					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTGACTCACTCTGTCTCATAT	0.418000													45	12					1.03325e-14	1.06094e-14	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141093334	141093334	+	Missense_Mutation	SNP	G	G	A	rs139868893	byFrequency	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:141093334G>A	ENST00000389484.3	-	78	12937	c.11966C>T	c.(11965-11967)tCt>tTt	p.S3989F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3989					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		ATGCATTCTAGAATGATCAGT	0.463000										TSP Lung(27;0.18)			12	65					0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64595916	64595916	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:64595916C>T	ENST00000536360.1	-	10	2079	c.1266G>A	c.(1264-1266)acG>acA	p.T422T				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	422	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CATGACCTTTCGTCCCACAAG	0.388000													6	29					0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	7968728	7968728	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:7968728G>A	ENST00000318888.4	-	20	1901	c.1030C>T	c.(1030-1032)Ctt>Ttt	p.L344F	ABLIM2_ENST00000505872.1_Missense_Mutation_p.L557F|ABLIM2_ENST00000341937.5_Missense_Mutation_p.L609F|ABLIM2_ENST00000361737.5_Missense_Mutation_p.L529F|ABLIM2_ENST00000407564.3_Missense_Mutation_p.L519F|ABLIM2_ENST00000546334.1_Missense_Mutation_p.L529F|ABLIM2_ENST00000361581.5_Missense_Mutation_p.L570F|ABLIM2_ENST00000447017.2_Missense_Mutation_p.L643F|ABLIM2_ENST00000296372.8_Missense_Mutation_p.L571F|ABLIM2_ENST00000514025.1_Missense_Mutation_p.L344F|ABLIM2_ENST00000545242.1_Missense_Mutation_p.L569F			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	609					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CAGAACAAAAGGGCTTTCTTC	0.617000													9	245					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155532400	155532400	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:155532400G>A	ENST00000461783.3	+	17	4400	c.3127G>A	c.(3127-3129)Gat>Aat	p.D1043N	TIAM2_ENST00000360366.4_Missense_Mutation_p.D1067N|TIAM2_ENST00000456877.2_Missense_Mutation_p.D355N|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1043N|TIAM2_ENST00000367174.2_Missense_Mutation_p.D419N|TIAM2_ENST00000456144.1_Missense_Mutation_p.D1043N|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1043N|TIAM2_ENST00000528391.2_Missense_Mutation_p.D379N			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1043					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGGCACTCTGGATCAGGTTTC	0.463000													20	34					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128495294	128495294	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:128495294C>T	ENST00000325888.8	+	43	7438	c.7177C>T	c.(7177-7179)Cca>Tca	p.P2393S	FLNC_ENST00000346177.6_Missense_Mutation_p.P2360S|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2393					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGAGCACATCCCAGACAGCCC	0.617000													82	93					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101590171	101590171	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:101590171C>T	ENST00000370449.4	+	20	2841	c.2728C>T	c.(2728-2730)Cgt>Tgt	p.R910C		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	910						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GAACAGCTTTCGTCGAACACT	0.478000													24	63					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102824954	102824954	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:102824954G>A	ENST00000260302.3	-	4	596	c.568C>T	c.(568-570)Cct>Tct	p.P190S	MMP13_ENST00000340273.4_Missense_Mutation_p.P190S	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	190					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GGCCCAGGAGGAAAAGCATGA	0.443000													10	14					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150781	247150781	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:247150781G>A	ENST00000339986.7	-	4	1183	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	346					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCTCCAGTATGAATTCTTCTA	0.383000													9	6					0	0	1	0	0
NLN	57486	broad.mit.edu	37	5	65088297	65088297	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:65088297C>T	ENST00000380985.5	+	9	1520	c.1342C>T	c.(1342-1344)Cat>Tat	p.H448Y	NLN_ENST00000502464.1_Missense_Mutation_p.H344Y	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	448					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AAAATACAATCATGCGGCCTG	0.547000													79	66					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98380287	98380287	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:98380287C>T	ENST00000339364.5	-	12	1882	c.1763G>A	c.(1762-1764)aGg>aAg	p.R588K	PIK3AP1_ENST00000371109.3_Missense_Mutation_p.R187K|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R410K	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	588						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CGACTGGGGCCTGTCCCTCCA	0.572000													9	32					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13356975	13356975	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:13356975T>C	ENST00000276297.4	-	2	1015	c.606A>G	c.(604-606)atA>atG	p.I202M	DLC1_ENST00000511869.1_Missense_Mutation_p.I202M|DLC1_ENST00000316609.5_Missense_Mutation_p.I202M	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	202					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GTGCATCTTTTATTTCACTTA	0.368000													40	86					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51791169	51791169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:51791169G>A	ENST00000251076.5	-	18	4539	c.4252C>T	c.(4252-4254)Cga>Tga	p.R1418*	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.R1418*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1418						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.R1418R(1)		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)		GTATAATCTCGAGTACCATCT	0.408000													14	167					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123255694	123255694	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:123255694C>T	ENST00000264501.4	+	69	12215	c.11842C>T	c.(11842-11844)Cct>Tct	p.P3948S	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P3948S			Q2LD37	K1109_HUMAN	KIAA1109	3948					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCCACCTATTCCTGCAGGTAT	0.383000													37	46					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49395274	49395274	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:49395274C>T	ENST00000374201.3	-	17	2529	c.2227G>A	c.(2227-2229)Gac>Aac	p.D743N	FRMPD2_ENST00000407470.4_Missense_Mutation_p.D711N|FRMPD2_ENST00000305531.3_Missense_Mutation_p.D718N	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	743					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GAGAGAGAGTCCCAGGTCATT	0.577000													6	25					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146254267	146254267	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:146254267C>T	ENST00000367503.3	-	14	3463	c.3065G>A	c.(3064-3066)gGa>gAa	p.G1022E	SHPRH_ENST00000275233.7_Missense_Mutation_p.G1013E|SHPRH_ENST00000367505.2_Missense_Mutation_p.G1013E|SHPRH_ENST00000438092.2_Missense_Mutation_p.G1022E	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1013					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ACATTCAGTTCCACATTTCTT	0.393000													13	29					0	0	1	0	0
CPT1B	1375	broad.mit.edu	37	22	51009660	51009660	+	Missense_Mutation	SNP	C	C	T	rs141885850		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:51009660C>T	ENST00000360719.2	-	15	1939	c.1802G>A	c.(1801-1803)cGg>cAg	p.R601Q	CPT1B_ENST00000312108.7_Missense_Mutation_p.R601Q|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.R396Q|CPT1B_ENST00000405237.3_Missense_Mutation_p.R601Q|CPT1B_ENST00000457250.1_Missense_Mutation_p.R567Q|CPT1B_ENST00000395650.2_Missense_Mutation_p.R601Q|CPT1B_ENST00000440709.1_Missense_Mutation_p.R520Q	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	601					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AGTCTCAGTCCGTCCCTCCCG	0.577000													24	73					0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53089622	53089622	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:53089622C>T	ENST00000341809.3	-	4	877	c.849G>A	c.(847-849)gtG>gtA	p.V283V	RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_Silent_p.V50V	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	283	Coil 1B.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ACTCCAGGTCCACTTTGCTCA	0.468000													10	32					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579419	82579419	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:82579419C>T	ENST00000423517.2	-	6	10822	c.10485G>A	c.(10483-10485)ggG>ggA	p.G3495G	PCLO_ENST00000333891.8_Silent_p.G3495G|PCLO_ENST00000437081.1_Silent_p.G215G	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3426					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACCATATTTCCCTACACGAG	0.458000													49	36					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113599321	113599321	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:113599321G>A	ENST00000297405.5	-	23	4103	c.3859C>T	c.(3859-3861)Cat>Tat	p.H1287Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.H1287Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.H1183Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.H1247Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1287	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGCTAAATGAAATGTTCTG	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	39					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1545587	1545587	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:1545587C>T	ENST00000262319.6	+	3	855	c.576C>T	c.(574-576)gtC>gtT	p.V192V		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	192						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCGAGGAGGTCGTCCGGGTGC	0.667000													45	52					0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47281945	47281945	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:47281945C>T	ENST00000542575.2	-	5	1673	c.1045G>A	c.(1045-1047)Ggg>Agg	p.G349R	SLC1A5_ENST00000434726.2_Missense_Mutation_p.G147R|SLC1A5_ENST00000412532.2_Missense_Mutation_p.G121R|SLC1A5_ENST00000594991.1_Missense_Mutation_p.G173R	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	349					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GAAGAGGTCCCAAAGGCAGTG	0.587000													6	17					0	0	1	0	0
CFL1	1072	broad.mit.edu	37	11	65623154	65623154	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:65623154G>A	ENST00000525451.2	-	4	1074	c.359C>T	c.(358-360)tCc>tTc	p.S120F	CFL1_ENST00000524553.1_Missense_Mutation_p.S103F|CFL1_ENST00000534769.1_Missense_Mutation_p.S158F|CFL1_ENST00000527344.1_Missense_Mutation_p.S103F|CFL1_ENST00000308162.5_Missense_Mutation_p.S120F|CFL1_ENST00000531407.1_Missense_Mutation_p.S103F|CFL1_ENST00000531413.1_Missense_Mutation_p.S103F			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	120	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		GGCGTCCTTGGAGCTGGCATA	0.582000													9	11					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33491828	33491828	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:33491828G>A	ENST00000265371.4	-	12	2380	c.1855C>T	c.(1855-1857)Cag>Tag	p.Q619*	NRP1_ENST00000466932.1_Intron|NRP1_ENST00000395995.1_Nonsense_Mutation_p.Q619*|NRP1_ENST00000374823.5_Nonsense_Mutation_p.Q619*|NRP1_ENST00000374867.2_Nonsense_Mutation_p.Q619*|NRP1_ENST00000374821.5_Intron|NRP1_ENST00000374822.4_Nonsense_Mutation_p.Q619*			O14786	NRP1_HUMAN	neuropilin 1	619					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCTGTGAGCTGGAAGTCATCA	0.522000													19	28					0	0	1	0	0
SERPINB6	5269	broad.mit.edu	37	6	2948537	2948537	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:2948537G>A	ENST00000380520.1	-	6	3120	c.1126C>T	c.(1126-1128)Ccg>Tcg	p.P376S	SERPINB6_ENST00000380529.1_Missense_Mutation_p.P376S|SERPINB6_ENST00000380524.1_Missense_Mutation_p.P376S|SERPINB6_ENST00000380546.3_Missense_Mutation_p.P376S|SERPINB6_ENST00000380539.1_Missense_Mutation_p.P376S|SERPINB6_ENST00000335686.5_Missense_Mutation_p.P376S			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	376					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	TGTCCTCACGGAGAGGAAAAG	0.597000													35	48					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128478361	128478361	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:128478361C>T	ENST00000325888.8	+	7	1349	c.1088C>T	c.(1087-1089)cCc>cTc	p.P363L	FLNC_ENST00000346177.6_Missense_Mutation_p.P363L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	363					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAACGCAGTCCCTTTGAGGTG	0.597000													39	144					0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30535997	30535997	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:30535997G>A	ENST00000380412.5	-	2	1639	c.1464C>T	c.(1462-1464)gcC>gcT	p.A488A	ZNF768_ENST00000562803.1_Silent_p.A457A	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	488			A -> S (in dbSNP:rs3751848).		regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGCCGCACACGGCGCACCTGT	0.657000													10	25					0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134280237	134280237	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:134280237C>T	ENST00000337090.3	+	15	2145	c.1972C>T	c.(1972-1974)Ccc>Tcc	p.P658S	CEP63_ENST00000332047.5_Missense_Mutation_p.P450S|CEP63_ENST00000606977.1_Missense_Mutation_p.P658S|CEP63_ENST00000513612.2_Missense_Mutation_p.P658S|CEP63_ENST00000383229.3_Missense_Mutation_p.P496S|CEP63_ENST00000354446.3_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	658					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCCTGTATCTCCCCTTGGTTC	0.373000													21	55					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50955123	50955123	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:50955123C>T	ENST00000374103.4	-	9	1204	c.1119G>A	c.(1117-1119)ggG>ggA	p.G373G	OGDHL_ENST00000432695.1_Silent_p.G164G|OGDHL_ENST00000419399.1_Silent_p.G316G	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	373					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCTTTGTCTTCCCCTGCACCA	0.617000													20	67					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42237219	42237219	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:42237219C>T	ENST00000541110.1	-	5	678	c.110G>A	c.(109-111)gGg>gAg	p.G37E	TRERF1_ENST00000340840.2_Missense_Mutation_p.G37E|TRERF1_ENST00000372922.4_Missense_Mutation_p.G37E|TRERF1_ENST00000372917.4_Missense_Mutation_p.G37E|TRERF1_ENST00000354325.2_Missense_Mutation_p.G37E			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	37					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AACTGCATTCCCATAGTTGTG	0.572000													27	61					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6265625	6265625	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:6265625C>T	ENST00000379936.2	+	6	1829	c.1714C>T	c.(1714-1716)Cca>Tca	p.P572S		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	572					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGGACCCCCAGGTCCAGA	0.587000													4	9					0	0	1	0	0
CEP170P1	645455	broad.mit.edu	37	4	119461477	119461477	+	RNA	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:119461477G>A	ENST00000412784.2	+	0	374					NR_003135.2																						GGTGATCCAAGACCTCAAGCA	0.433000													11	24					0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96697813	96697813	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:96697813G>A	ENST00000434632.1	-	4	604	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	GPAT2_ENST00000377137.3_Missense_Mutation_p.R49C|GPAT2_ENST00000453542.1_Missense_Mutation_p.R49C|GPAT2_ENST00000359548.4_Missense_Mutation_p.R49C			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	49					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						TGGCAACAGCGACCCACAAAG	0.607000													6	25					0	0	1	0	0
ALKBH8	91801	broad.mit.edu	37	11	107422633	107422633	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:107422633G>A	ENST00000428149.2	-	6	752	c.601C>T	c.(601-603)Cct>Tct	p.P201S	ALKBH8_ENST00000429370.1_Missense_Mutation_p.P201S|ALKBH8_ENST00000389568.3_Missense_Mutation_p.P201S|ALKBH8_ENST00000417449.2_Missense_Mutation_p.P204S	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	201					response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		CAAATGTCAGGAAGACCTACA	0.318000													8	3					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33469571	33469571	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:33469571G>A	ENST00000379471.2	-	5	740	c.653C>T	c.(652-654)cCc>cTc	p.P218L	NOL6_ENST00000455041.2_Missense_Mutation_p.P158L|NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	218					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			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)		GCCAAAGAGGGGGTCCTGGGC	0.607000													18	80					0	0	1	0	0
LEMD2	221496	broad.mit.edu	37	6	33744925	33744925	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:33744925C>T	ENST00000293760.5	-	7	1267	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K	LEMD2_ENST00000508327.1_Silent_p.K114K|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	416						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CTATAATCTTCTTCACCATCT	0.527000													63	203					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45717935	45717935	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:45717935G>A	ENST00000327619.5	+	8	1093	c.719G>A	c.(718-720)aGg>aAg	p.R240K	EYA2_ENST00000357410.3_Missense_Mutation_p.R240K|EYA2_ENST00000317304.6_Missense_Mutation_p.R240K	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	240					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GACACAGACAGGCCGCACCGG	0.572000													31	72					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219562282	219562282	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:219562282C>T	ENST00000295709.3	+	24	3137	c.2858C>T	c.(2857-2859)tCc>tTc	p.S953F	STK36_ENST00000392105.3_Missense_Mutation_p.S932F|STK36_ENST00000440309.1_Missense_Mutation_p.S953F|STK36_ENST00000392106.2_Missense_Mutation_p.S932F	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	953					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		ATCCTCATGTCCATCCTGAAG	0.587000													11	58					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462708	5462708	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:5462708C>T	ENST00000345221.3	-	4	1862	c.1308G>A	c.(1306-1308)gcG>gcA	p.A436A	NLRP1_ENST00000572272.1_Silent_p.A436A|NLRP1_ENST00000269280.4_Silent_p.A436A|NLRP1_ENST00000262467.5_Silent_p.A436A|NLRP1_ENST00000354411.3_Silent_p.A436A|NLRP1_ENST00000577119.1_Silent_p.A436A|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	436	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.A436A(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCAGTGCATCCGCCGGCTGTG	0.577000													6	11					0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121586293	121586293	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:121586293C>T	ENST00000361976.2	+	20	2566	c.2400C>T	c.(2398-2400)ctC>ctT	p.L800L	INPP5F_ENST00000369080.3_Silent_p.L190L	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	800							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TTGGCAACCTCCGAAAGCTAG	0.323000													21	35					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5047024	5047024	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:5047024G>A	ENST00000251170.7	+	8	1129	c.949G>A	c.(949-951)Ggc>Agc	p.G317S		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	317	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CTATGCAGGGGGCTGGCATTA	0.537000													17	12					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175046766	175046766	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:175046766C>T	ENST00000239462.4	+	2	325	c.212C>T	c.(211-213)tCg>tTg	p.S71L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	71					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GATGGGGCTTCGCTCTTGGCC	0.587000													17	38					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88888279	88888279	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:88888279G>A	ENST00000303236.3	-	7	1607	c.1306_splice	c.e7+1	p.H436_splice	EIF2AK3_ENST00000419748.1_Splice_Site_p.H285_splice	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	436					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ATTCACTTACGAATTAAGGGT	0.348000													23	41					0	0	1	0	0
SAAL1	113174	broad.mit.edu	37	11	18118329	18118329	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:18118329G>A	ENST00000524803.1	-	3	371	c.322C>T	c.(322-324)Cct>Tct	p.P108S	SAAL1_ENST00000529318.1_Missense_Mutation_p.P108S|SAAL1_ENST00000300013.4_Missense_Mutation_p.P108S|SAAL1_ENST00000533851.1_5'UTR			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	108					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						CTTAATCGAGGACACTTGGAC	0.343000													7	15					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2886862	2886862	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:2886862C>T	ENST00000602557.1	-	52	8392	c.7837G>A	c.(7837-7839)Gat>Aat	p.D2613N	CSMD1_ENST00000602723.1_Missense_Mutation_p.D2613N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D2613N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D2612N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D2612N|CSMD1_ENST00000520002.1_Missense_Mutation_p.D2613N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2613	Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGCCTCTCATCTCCTATGTTC	0.527000													9	18					0	0	1	0	0
ABHD4	63874	broad.mit.edu	37	14	23072595	23072595	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:23072595C>T	ENST00000428304.2	+	3	483	c.413C>T	c.(412-414)cCc>cTc	p.P138L	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	138					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		ATGGGGATCCCCAGCATGATC	0.557000													32	23					0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701065	8701065	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:8701065G>A	ENST00000329805.4	-	1	1602	c.1374C>T	c.(1372-1374)ctC>ctT	p.L458L		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	458						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						TCTGAATGGGGAGGACGGACC	0.612000													7	98					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187172969	187172969	+	Silent	SNP	G	G	A	rs139190582		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:187172969G>A	ENST00000264690.6	+	10	1285	c.1098G>A	c.(1096-1098)ggG>ggA	p.G366G	KLKB1_ENST00000513864.1_Silent_p.G366G	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	366	Apple 4.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGACACAAGGGAGCTCTGGTT	0.428000													38	78					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088178	9088178	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:9088178C>T	ENST00000397910.4	-	1	3840	c.3637G>A	c.(3637-3639)Gga>Aga	p.G1213R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1213	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGCTTTTTCCTATGGCACCA	0.493000													43	192					0	0	1	0	0
PEX2	5828	broad.mit.edu	37	8	77895944	77895944	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:77895944G>A	ENST00000419564.2	-	4	935	c.471C>T	c.(469-471)ttC>ttT	p.F157F	PEX2_ENST00000522527.1_Silent_p.F157F|PEX2_ENST00000520103.1_Silent_p.F157F|PEX2_ENST00000357039.4_Silent_p.F157F	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	157					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						CCCTCTGAAGGAAAATCAAAA	0.363000													19	44					0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71646537	71646537	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:71646537C>T	ENST00000408926.3	+	5	1534	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	XKR9_ENST00000520030.1_Missense_Mutation_p.L334F|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	334						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TCTTGGAATTCTTTTTCTTAT	0.323000													5	13					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51192500	51192500	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:51192500C>T	ENST00000293441.1	-	15	2019	c.2001G>A	c.(1999-2001)caG>caA	p.Q667Q	SHANK1_ENST00000359082.3_Silent_p.Q658Q|SHANK1_ENST00000391814.1_Silent_p.Q667Q|SHANK1_ENST00000391813.1_Silent_p.Q54Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	667	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TGTCCTTCTTCTGCAGCAAGA	0.597000													37	107					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104641567	104641567	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:104641567C>T	ENST00000315264.7	+	11	2403	c.2025C>T	c.(2023-2025)ttC>ttT	p.F675F	KIF26A_ENST00000423312.2_Silent_p.F814F			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	814					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CGCCTGACTTCGTGCCCATCA	0.692000													7	18					0	0	1	0	0
NXPE2	120406	broad.mit.edu	37	11	114568808	114568808	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:114568808G>A	ENST00000375475.5	+	3	272	c.174G>A	c.(172-174)ggG>ggA	p.G58G	NXPE2_ENST00000389586.4_Silent_p.G58G					neurexophilin and PC-esterase domain family, member 2																		TGAACCAAGGGAACATCTTCA	0.358000													3	9					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160668235	160668235	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:160668235G>T	ENST00000366952.1	-	7	2356	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.S313Y			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	313					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GGCGGGTAGAGATTTTCCATT	0.483000													12	24					0.00185496	0.0018613	1	1	0
ATP2B2	491	broad.mit.edu	37	3	10392117	10392117	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:10392117C>T	ENST00000397077.1	-	14	2721	c.2146G>A	c.(2146-2148)Gag>Aag	p.E716K	ATP2B2_ENST00000383800.4_Missense_Mutation_p.E716K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E747K|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E761K|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E761K			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	761					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTGTTGAACTCCTTGCCCTCG	0.597000													5	57					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55222181	55222181	+	RNA	SNP	C	C	T	rs115666951	by1000genomes	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:55222181C>T	ENST00000413439.1	+	0	1708																											CCCTGGAGCTCGTGGTCTCAG	0.627000													26	46					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645563	45645563	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:45645563G>A	ENST00000303230.4	-	2	630	c.573C>T	c.(571-573)atC>atT	p.I191I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	191						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TAAAATTCATGATCAGGTCCA	0.378000													21	36					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146570	70146570	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:70146570G>A	ENST00000335568.5	+	1	354	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	UGT2B28_ENST00000511240.1_Missense_Mutation_p.E118K	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	118					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AATCCTGTGGGAATTTCATGA	0.299000													21	58					0	0	1	0	0
EIF4E1B	253314	broad.mit.edu	37	5	176072467	176072467	+	Silent	SNP	C	C	T	rs115095188	by1000genomes	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:176072467C>T	ENST00000318682.6	+	8	1148	c.564C>T	c.(562-564)atC>atT	p.I188I	EIF4E1B_ENST00000512734.1_3'UTR|EIF4E1B_ENST00000504597.1_Silent_p.I188I	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	188					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGACAAGATCGCTGTGTGGA	0.622000													8	87					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383122	22383122	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:22383122C>T	ENST00000328795.4	+	1	741	c.650C>T	c.(649-651)tCc>tTc	p.S217F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTTCTGGCTTCCTATGCAGTC	0.502000													25	107					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9729455	9729455	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:9729455C>T	ENST00000262441.5	+	1	588	c.75C>T	c.(73-75)ccC>ccT	p.P25P	GLP2R_ENST00000574745.1_Intron	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	25					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	ACGAGCTGCCCATGGGCATCC	0.657000													13	10					0	0	1	0	0
SETD7	80854	broad.mit.edu	37	4	140468193	140468193	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:140468193G>C	ENST00000274031.3	-	2	687	c.51C>G	c.(49-51)gaC>gaG	p.D17E	SETD7_ENST00000506866.2_Missense_Mutation_p.D17E|SETD7_ENST00000406354.1_5'UTR|SETD7_ENST00000404104.3_Missense_Mutation_p.D17E	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	17					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					ATCCGTCATCGTCCAGGTGCC	0.527000													18	45					0	0	1	0	0
FAM83E	54854	broad.mit.edu	37	19	49116588	49116588	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:49116588G>A	ENST00000263266.3	-	1	231	c.42C>T	c.(40-42)tcC>tcT	p.S14S		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	14										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCCTGGGACCGGAGTCCACTC	0.701000													8	10					0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244662343	244662343	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:244662343C>T	ENST00000366534.4	+	7	445	c.391C>T	c.(391-393)Cct>Tct	p.P131S	C1orf101_ENST00000366531.3_Intron|C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Missense_Mutation_p.P131S	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	131						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AAGTGCAGATCCTGATGAGTT	0.363000													12	37					0	0	1	0	0
IP6K2	51447	broad.mit.edu	37	3	48726058	48726058	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:48726058T>C	ENST00000328631.5	-	6	1152	c.929A>G	c.(928-930)aAg>aGg	p.K310R		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	310					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CTCAGTCAGCTTCTTGAGCAC	0.577000													21	34					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139262604	139262604	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:139262604C>T	ENST00000450536.2	-	8	1577	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	REPS1_ENST00000258062.5_Missense_Mutation_p.D335N|REPS1_ENST00000409812.2_Missense_Mutation_p.D335N|REPS1_ENST00000415951.2_Missense_Mutation_p.D335N|REPS1_ENST00000367663.4_Missense_Mutation_p.D335N			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	335	EF-hand.|EH 2.					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		AATGCACCATCTTTATCAAAG	0.358000													17	77					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54760194	54760194	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:54760194C>T	ENST00000316219.5	-	4	474	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	LILRB5_ENST00000449561.2_Missense_Mutation_p.E123K|LILRB5_ENST00000450632.1_Intron|LILRB5_ENST00000345866.6_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	123	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGAGTGGGTTCTGCATAGAAT	0.552000													28	47					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657008	40657008	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:40657008G>A	ENST00000406785.1	-	2	602	c.413C>T	c.(412-414)aCc>aTc	p.T138I	SLC8A1_ENST00000405269.1_Missense_Mutation_p.T138I|SLC8A1_ENST00000332839.4_Missense_Mutation_p.T138I|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T138I|SLC8A1_ENST00000403092.1_Missense_Mutation_p.T138I|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T138I|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T138I|SLC8A1_ENST00000405901.3_Missense_Mutation_p.T138I|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T138I|SLC8A1_ENST00000408028.2_Missense_Mutation_p.T138I			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	138					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGCCATCAAGGTCAGGTTAGA	0.453000													31	55					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40337903	40337903	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:40337903T>C	ENST00000310169.2	+	2	263	c.124T>C	c.(124-126)Tat>Cat	p.Y42H		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	42					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TTTTGAAGATTATTCTAATGC	0.408000													10	55					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187627388	187627388	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:187627388G>T	ENST00000304698.5	+	8	2522	c.2319G>T	c.(2317-2319)gaG>gaT	p.E773D		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	773						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGATCATGGAGCACCCTGGAG	0.502000													17	27					1.45105e-14	1.48821e-14	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34276436	34276436	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:34276436G>A	ENST00000373381.4	-	10	1530	c.1354C>T	c.(1354-1356)Ccc>Tcc	p.P452S	CSMD2_ENST00000338325.1_Missense_Mutation_p.P9S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	412	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGCCCGAGGGGCCTCGAAGG	0.537000													32	86					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582084	82582084	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:82582084C>T	ENST00000423517.2	-	5	8522	c.8185G>A	c.(8185-8187)Gat>Aat	p.D2729N	PCLO_ENST00000333891.8_Missense_Mutation_p.D2729N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2660					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTACGCAAATCAATTACATCA	0.358000													10	12					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101612647	101612647	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:101612647C>T	ENST00000311812.2	-	9	854	c.704G>A	c.(703-705)gGa>gAa	p.G235E	SNX31_ENST00000428383.2_Missense_Mutation_p.G136E	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	235					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTTGGCCCATCCTTTTTCAAT	0.358000													24	46					0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401099	11401099	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:11401099G>A	ENST00000002596.5	-	2	1705	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	177						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CGCGCACCAGGAACTCCTCGA	0.592000													6	36					0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6759176	6759176	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:6759176C>A	ENST00000378827.4	+	3	1850	c.631C>A	c.(631-633)Ccc>Acc	p.P211T		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	211					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	TGATGTCACCCCCGCTGTGAT	0.527000													18	21					3.32936e-07	3.37145e-07	1	1	0
RNF166	115992	broad.mit.edu	37	16	88766109	88766109	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:88766109G>A	ENST00000541206.2	-	3	1016	c.17C>T	c.(16-18)tCg>tTg	p.S6L	RNF166_ENST00000567844.1_Intron|RNF166_ENST00000312838.4_Missense_Mutation_p.S115L|RNF166_ENST00000537718.2_Missense_Mutation_p.S6L|RNF166_ENST00000568683.1_Missense_Mutation_p.S6L	NM_001171816.1	NP_001165287.1	Q96A37	RN166_HUMAN	ring finger protein 166	115						intracellular	zinc ion binding			endometrium(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CAGGCAGGACGAAATGTGCAC	0.632000													5	14					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133595982	133595982	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:133595982C>T	ENST00000519595.1	-	11	1283	c.1185G>A	c.(1183-1185)atG>atA	p.M395I	LRRC6_ENST00000518642.1_Missense_Mutation_p.M392I|LRRC6_ENST00000250173.1_Missense_Mutation_p.M395I			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	395	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGGTAGTTTTCATAGATTTGA	0.398000													20	41					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108381921	108381921	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:108381921G>A	ENST00000265843.4	-	6	4423	c.4313C>T	c.(4312-4314)tCc>tTc	p.S1438F	EXPH5_ENST00000428840.1_Missense_Mutation_p.S1362F|EXPH5_ENST00000443411.1_Missense_Mutation_p.S1250F|EXPH5_ENST00000525344.1_Missense_Mutation_p.S1431F	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1438					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCTAGTTTGGGAATTTCCAAT	0.413000													6	34					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187698678	187698678	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:187698678G>A	ENST00000295131.2	-	6	862	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	275					apoptosis		zinc ion binding	p.R275C(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TGTACCTCACGAAATGTAAAC	0.363000													9	24					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80101302	80101302	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:80101302G>A	ENST00000466387.1	+	10	1410	c.686G>A	c.(685-687)cGc>cAc	p.R229H	CTNNA2_ENST00000540488.1_Missense_Mutation_p.R229H|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R263H|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R229H|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R229H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R229H			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	229					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.R229H(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCATTTCTCCGCCACCCAGAT	0.572000													6	43					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823	by1000genomes	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N						ankyrin repeat domain 36C									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													5	38					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45293673	45293673	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:45293673C>T	ENST00000447098.2	-	14	1911	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K	PTCH2_ENST00000372192.3_Missense_Mutation_p.E634K	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	634					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTGAAGAGCTCAGAGCCCAGT	0.632000									Basal Cell Nevus syndrome				35	67					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141016188	141016188	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:141016188C>T	ENST00000277549.5	+	47	6908	c.4339C>T	c.(4339-4341)Cga>Tga	p.R1447*	CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.R2254*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.R2251*|CACNA1B_ENST00000277551.2_Silent_p.L2190L|CACNA1B_ENST00000371372.1_Nonsense_Mutation_p.R2253*|CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.R2252*			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2253					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCCTGGCTCTCGAATTGGCTC	0.662000													15	38					0	0	1	0	0
TK2	7084	broad.mit.edu	37	16	66547653	66547653	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:66547653G>A	ENST00000299697.7	-	9	1030	c.806C>T	c.(805-807)cCc>cTc	p.P269L	TK2_ENST00000563369.2_Missense_Mutation_p.P130L|RP11-403P17.5_ENST00000561728.1_Silent_p.P43P|TK2_ENST00000544898.1_Missense_Mutation_p.P178L|TK2_ENST00000527800.1_Missense_Mutation_p.P130L|TK2_ENST00000527284.1_Missense_Mutation_p.P196L|TK2_ENST00000417693.3_Missense_Mutation_p.P209L|TK2_ENST00000451102.2_Missense_Mutation_p.P227L|TK2_ENST00000545043.2_Missense_Mutation_p.P202L|TK2_ENST00000564917.1_Missense_Mutation_p.P244L|TK2_ENST00000525974.1_Missense_Mutation_p.P130L	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	227					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		GGCTGCCATGGGGAAAAGGCT	0.537000													5	15					0	0	1	0	0
SLC10A7	84068	broad.mit.edu	37	4	147227162	147227162	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:147227162C>T	ENST00000432059.2	-	6	679		c.e6-1		SLC10A7_ENST00000335472.7_Splice_Site|SLC10A7_ENST00000507030.1_Splice_Site|SLC10A7_ENST00000394062.3_Splice_Site|SLC10A7_ENST00000264986.3_Splice_Site			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7							integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					ATGAACCAAGCTGTAAAACAA	0.348000													8	17					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33469570	33469570	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:33469570G>A	ENST00000379471.2	-	5	741	c.654C>T	c.(652-654)ccC>ccT	p.P218P	NOL6_ENST00000455041.2_Silent_p.P158P|NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	218					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			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)		TGCCAAAGAGGGGGTCCTGGG	0.607000													18	80					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71127835	71127835	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:71127835C>T	ENST00000393567.2	-	11	1481	c.1331G>A	c.(1330-1332)cGa>cAa	p.R444Q	HYDIN_ENST00000321489.5_Missense_Mutation_p.R444Q|HYDIN_ENST00000541601.1_Missense_Mutation_p.R461Q|HYDIN_ENST00000448691.1_Missense_Mutation_p.R444Q|HYDIN_ENST00000448089.2_Missense_Mutation_p.R444Q|HYDIN_ENST00000393550.2_Missense_Mutation_p.R444Q|HYDIN_ENST00000538248.1_Missense_Mutation_p.R471Q|HYDIN_ENST00000288168.10_Missense_Mutation_p.R461Q	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	444										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACGGATTTCTCGGCCTAGAAA	0.393000													16	21					0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626495	49626495	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:49626495G>A	ENST00000371571.4	-	2	666	c.381C>T	c.(379-381)atC>atT	p.I127I	KCNG1_ENST00000396017.3_Silent_p.I127I|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	127						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGAAGGTCAGGATAGTGCCGA	0.637000													13	54					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39341762	39341762	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:39341762C>T	ENST00000263408.4	-	3	319	c.224G>A	c.(223-225)gGg>gAg	p.G75E	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	75	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCATCTTTTCCCATTAAATTG	0.443000													8	41					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50779290	50779290	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:50779290C>T	ENST00000440075.2	+	28	3557	c.3510C>T	c.(3508-3510)tcC>tcT	p.S1170S	MYH14_ENST00000598205.1_Silent_p.S1137S|MYH14_ENST00000425460.1_Silent_p.S1137S|MYH14_ENST00000376970.2_Silent_p.S1162S|MYH14_ENST00000262269.8_Silent_p.S1170S|MYH14_ENST00000596571.1_Silent_p.S1129S|MYH14_ENST00000601313.1_Silent_p.S1170S			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1129					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGCTGAAATCCCTGCGGGAGG	0.672000													8	22					0	0	1	0	0
GPR42	2866	broad.mit.edu	37	19	35862349	35862349	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:35862349C>T	ENST00000454971.1	+	2	289	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S	GPR42_ENST00000597214.1_Missense_Mutation_p.P30S					G protein-coupled receptor 42 (gene/pseudogene)											endometrium(1)|kidney(1)|skin(2)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GGTGGGGCTCCCCCTCAACCT	0.642000													26	41					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37771307	37771307	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:37771307C>T	ENST00000402918.1	-	3	1053	c.268G>A	c.(268-270)Gag>Aag	p.E90K	ELFN2_ENST00000349653.3_Missense_Mutation_p.E90K|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	90						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TAGGAGATCTCGTTCTTGGTG	0.597000													26	24					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080748	148080748	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:148080748G>A	ENST00000361727.3	+	22	3999	c.3483G>A	c.(3481-3483)ggG>ggA	p.G1161G	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Silent_p.G220G	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1161	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TAGAAACAGGGAAAATTGACC	0.433000										HNSCC(39;0.1)			19	41					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50745178	50745178	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:50745178C>T	ENST00000300589.2	+	4	1461	c.1356C>T	c.(1354-1356)atC>atT	p.I452I		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	452	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AACAGGGCATCGAGCTGTACC	0.642000													25	67					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140266997	140266997	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:140266997G>A	ENST00000275884.6	-	8	2085	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L	DENND2A_ENST00000492720.1_Silent_p.L556L|DENND2A_ENST00000537639.1_Silent_p.L556L|DENND2A_ENST00000496613.1_Silent_p.L556L			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	556										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GGTACTCGATGAGTTCCCGGG	0.592000													5	21					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48081953	48081953	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:48081953C>T	ENST00000264316.4	-	11	1234	c.1149G>A	c.(1147-1149)agG>agA	p.R383R	TXK_ENST00000507351.1_Silent_p.R38R	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	383	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TATAGCCATTCCTCTCCAGAT	0.353000													54	109					0	0	1	0	0
POLR3C	10623	broad.mit.edu	37	1	145608180	145608180	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:145608180G>A	ENST00000334163.3	-	4	677	c.517C>T	c.(517-519)Cca>Tca	p.P173S	POLR3C_ENST00000369294.1_Missense_Mutation_p.P173S|POLR3C_ENST00000471254.1_5'UTR	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	173					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GGTGGTGGTGGCCCAGGGTCT	0.483000													29	78					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887856	25887856	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:25887856G>A	ENST00000376351.3	+	11	3660	c.3301G>A	c.(3301-3303)Gag>Aag	p.E1101K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1101						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAGGGCAAAAGAGGAGAACGG	0.498000													5	60					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086466	56086466	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:56086466G>A	ENST00000312711.1	+	1	684	c.684G>A	c.(682-684)atG>atA	p.M228I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTCTCAGGATGAATTCTGCTG	0.413000													7	25					0	0	1	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716400	39716400	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:39716400C>T	ENST00000553728.1	+	4	835	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	MIA2_ENST00000556784.1_Missense_Mutation_p.R207C|MIA2_ENST00000280082.3_Missense_Mutation_p.R208C														p.R208C(2)									GGAACAGGATCGTATTCCAGA	0.443000													16	39					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14852256	14852256	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:14852256A>G	ENST00000282096.4	+	8	2173	c.1820A>G	c.(1819-1821)aAc>aGc	p.N607S	PDE3B_ENST00000455098.2_Missense_Mutation_p.N556S	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	607					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAAGAAGAAAACATTTTCTCG	0.284000													14	17					0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1718140	1718140	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:1718140C>T	ENST00000313871.3	+	4	1163	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	AKAP17A_ENST00000381261.3_Missense_Mutation_p.R323C	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	323					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						AGAGAAGCTTCGCAAGAGGGA	0.582000													18	28					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991267	35991267	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:35991267G>A	ENST00000274278.3	-	1	433	c.76C>T	c.(76-78)Ctg>Ttg	p.L26L	UGT3A1_ENST00000333811.4_Intron|UGT3A1_ENST00000507113.1_Silent_p.L26L|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Silent_p.L26L	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	26						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATATTGTCAGGATTTTGGCA	0.592000													50	82					0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35857094	35857094	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:35857094C>T	ENST00000237530.6	+	12	1752	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F	RPN2_ENST00000373622.5_Missense_Mutation_p.L449F	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	481					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CACCTACACTCTCTACTTAAT	0.483000													17	39					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806400	54806400	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:54806400C>T	ENST00000306858.7	+	5	2747	c.2631C>T	c.(2629-2631)ttC>ttT	p.F877F		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	877								p.F877L(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)					AAAGCAAGTTCTTGGAAAGGG	0.428000													26	35					0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22259580	22259580	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:22259580C>T	ENST00000344041.6	-	9	754	c.442G>A	c.(442-444)Gat>Aat	p.D148N	RAPGEF5_ENST00000475788.1_5'UTR|RAPGEF5_ENST00000405243.1_Missense_Mutation_p.D301N	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CCGATTTCATCTCTTTCCTGG	0.438000													12	23					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1217003	1217003	+	Silent	SNP	C	C	T	rs149388719		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:1217003C>T	ENST00000304460.10	+	8	1172	c.1116C>T	c.(1114-1116)ccC>ccT	p.P372P		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	372					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.P372P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTCCGACCCCGCGGCCTACG	0.622000													43	179					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161027662	161027662	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:161027662G>A	ENST00000447678.1	-	18	2752	c.2632C>T	c.(2632-2634)Cca>Tca	p.P878S	LPA_ENST00000316300.5_Missense_Mutation_p.P878S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3386	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACAGGATCTGGATTCCTGCAG	0.522000													33	172					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46815496	46815496	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:46815496C>T	ENST00000339613.2	+	7	936	c.681C>T	c.(679-681)tcC>tcT	p.S227S	HIF3A_ENST00000420102.2_Silent_p.S232S|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000244303.6_Silent_p.S214S|HIF3A_ENST00000377670.4_Silent_p.S283S|HIF3A_ENST00000472815.1_Silent_p.S214S|HIF3A_ENST00000600383.1_Silent_p.S214S|HIF3A_ENST00000300862.3_Silent_p.S281S			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	283	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CGCTGGACTCCGATGCGGTCA	0.627000													44	77					0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39044448	39044448	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:39044448G>A	ENST00000379907.4	+	11	1063	c.936G>A	c.(934-936)ctG>ctA	p.L312L	ADAM32_ENST00000519315.1_Intron|ADAM32_ENST00000437682.2_Intron	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	312	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AGATAACTCTGGAGGCATTTG	0.348000													11	28					0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91428653	91428653	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:91428653G>A	ENST00000328850.3	+	3	367	c.225G>A	c.(223-225)gaG>gaA	p.E75E	FES_ENST00000450438.2_Intron|FES_ENST00000444422.2_Silent_p.E75E|FES_ENST00000394302.1_Intron|FES_ENST00000394300.3_Intron|FES_ENST00000414248.2_Intron	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	75	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTGGGCTGAGATCACCAGCC	0.637000													24	27					0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45733536	45733536	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr21:45733536C>T	ENST00000403390.1	+	7	750	c.750C>T	c.(748-750)ttC>ttT	p.F250F	PFKL_ENST00000349048.4_Silent_p.F203F|PFKL_ENST00000496824.1_3'UTR			P17858	K6PL_HUMAN	phosphofructokinase, liver	203					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		AGAGGACCTTCGTGCTGGAAG	0.672000													13	14					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542517	28542517	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:28542517C>T	ENST00000452236.2	-	3	2582	c.1965G>A	c.(1963-1965)agG>agA	p.R655R		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	655					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CATCATGTTTCCTCTTCATTG	0.438000													54	67					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737555	248737555	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:248737555G>A	ENST00000328782.2	-	1	525	c.504C>T	c.(502-504)acC>acT	p.T168T		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGAAGCTCATGGTAATGGGGG	0.517000													14	48					0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612586	53612586	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:53612586G>A	ENST00000455735.2	-	7	1176	c.856C>T	c.(856-858)Cat>Tat	p.H286Y	ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.H8Y|ZNF415_ENST00000421033.1_Missense_Mutation_p.H250Y|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000500065.4_Missense_Mutation_p.H238Y|ZNF415_ENST00000448501.1_Missense_Mutation_p.H286Y|ZNF415_ENST00000440291.1_Missense_Mutation_p.H225Y|ZNF415_ENST00000243643.4_Missense_Mutation_p.H238Y			Q09FC8	ZN415_HUMAN	zinc finger protein 415	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TCTCCAGAATGACTTACCTGA	0.408000													10	55					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933204	43933204	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:43933204C>T	ENST00000537548.1	-	4	551	c.307G>A	c.(307-309)Gac>Aac	p.D103N	MATN4_ENST00000360607.5_Missense_Mutation_p.D103N|MATN4_ENST00000342716.4_Missense_Mutation_p.D103N|MATN4_ENST00000353917.5_Missense_Mutation_p.D103N|MATN4_ENST00000372754.1_Missense_Mutation_p.D103N|MATN4_ENST00000372756.1_Missense_Mutation_p.D103N|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372753.1_Intron			O95460	MATN4_HUMAN	matrilin 4	103	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GGCACCAGGTCGCGGATGGCG	0.662000													11	29					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10398403	10398403	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:10398403C>T	ENST00000226207.5	-	37	5405	c.5311G>A	c.(5311-5313)Gag>Aag	p.E1771K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1771						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCAGCTCCTCAGCCATCATG	0.493000													58	89					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35993880	35993880	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:35993880G>A	ENST00000297866.5	+	15	2629	c.2563G>A	c.(2563-2565)Gag>Aag	p.E855K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	855										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						ATCTTCTAATGAGCTAGTATT	0.433000													45	29					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38530743	38530743	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:38530743C>T	ENST00000263409.4	-	2	169	c.7G>A	c.(7-9)Gat>Aat	p.D3N	LIFR_ENST00000453190.2_Missense_Mutation_p.D3N|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	3					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ACGTAAATATCCATCATCTGT	0.408000			T	PLAG1	salivary adenoma								19	36					0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18604259	18604259	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:18604259C>T	ENST00000330423.3	+	2	90	c.17C>T	c.(16-18)tCa>tTa	p.S6L	TUBA8_ENST00000316027.6_5'UTR	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	6					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GAATGCATATCAGTCCACGTG	0.577000													5	105					0	0	1	0	0
MAS1	4142	broad.mit.edu	37	6	160328409	160328409	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:160328409G>A	ENST00000252660.4	+	1	436	c.422G>A	c.(421-423)cGa>cAa	p.R141Q		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	141					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		ATCTGGTACCGATGCCATCGC	0.527000													42	79					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038255	62038255	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:62038255G>A	ENST00000354587.3	-	17	2561	c.2385C>T	c.(2383-2385)tcC>tcT	p.S795S	KCNQ2_ENST00000359689.1_Silent_p.S787S|KCNQ2_ENST00000357249.2_Silent_p.S769S|KCNQ2_ENST00000344462.3_Silent_p.S783S|KCNQ2_ENST00000370224.1_Silent_p.S795S|KCNQ2_ENST00000370226.1_Silent_p.S757S|KCNQ2_ENST00000359125.2_Silent_p.S787S|KCNQ2_ENST00000430658.1_Silent_p.S756S|KCNQ2_ENST00000360480.3_Silent_p.S759S			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	787					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GGATGGAGATGGACGTGTCGC	0.667000													7	9					0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39623734	39623734	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:39623734C>T	ENST00000262039.4	+	20	2227	c.2141C>T	c.(2140-2142)cCa>cTa	p.P714L	PIK3C3_ENST00000589056.1_Missense_Mutation_p.P61L|PIK3C3_ENST00000398870.3_Missense_Mutation_p.P651L|PIK3C3_ENST00000587402.1_Missense_Mutation_p.P61L|PIK3C3_ENST00000593098.1_Missense_Mutation_p.P199L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	714	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GAGAATGGGCCAAATGGGATT	0.348000										TSP Lung(28;0.18)			16	49					0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35469240	35469240	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr21:35469240C>T	ENST00000381151.3	+	2	2255	c.1743C>T	c.(1741-1743)acC>acT	p.T581T	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	581						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ATAATGAGACCATCAACCACA	0.463000													30	68					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262045	140262045	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:140262045C>T	ENST00000289272.2	+	1	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F	PCDHA13_ENST00000409494.1_Silent_p.F64F|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCCTGTTCCGGGTGGCGT	0.612000													58	53					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73128179	73128179	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:73128179C>T	ENST00000545377.1	+	10	1217	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	ARHGEF28_ENST00000296799.4_Silent_p.I34I|ARHGEF28_ENST00000437974.1_Silent_p.I347I|ARHGEF28_ENST00000513042.2_Silent_p.I347I|ARHGEF28_ENST00000287898.5_Silent_p.I347I|ARHGEF28_ENST00000296794.6_Silent_p.I347I|ARHGEF28_ENST00000426542.2_Silent_p.I347I	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		CCTTCGATATCCTAAAAAAAT	0.433000													11	8					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600589	29600589	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:29600589C>T	ENST00000431530.3	+	1	1842	c.1784C>T	c.(1783-1785)cCc>cTc	p.P595L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	585						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AACACGTCCCCCAAAGTGCCT	0.537000													28	33					0	0	1	0	0
GXYLT1	283464	broad.mit.edu	37	12	42491381	42491381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:42491381G>A	ENST00000398675.3	-	7	1256	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	GXYLT1_ENST00000280876.6_Nonsense_Mutation_p.R311*	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	342					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TGATCTGGTCGATAATTCCAT	0.368000													13	69					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141736050	141736050	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:141736050C>T	ENST00000475668.2	+	17	2095	c.2041C>T	c.(2041-2043)Ccg>Tcg	p.P681S	MGAM_ENST00000549489.2_Missense_Mutation_p.P681S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	681	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCATTTTATCCGTTTTCTAG	0.473000													3	13					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84290301	84290301	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:84290301C>T	ENST00000428679.2	-	24	2760	c.2167G>A	c.(2167-2169)Gat>Aat	p.D723N	SNAP91_ENST00000521743.1_Missense_Mutation_p.D723N|SNAP91_ENST00000369694.2_Missense_Mutation_p.D723N|SNAP91_ENST00000437520.1_Missense_Mutation_p.D416N|SNAP91_ENST00000195649.6_Missense_Mutation_p.D718N|SNAP91_ENST00000521485.1_Missense_Mutation_p.D718N|SNAP91_ENST00000439399.2_Missense_Mutation_p.D723N|SNAP91_ENST00000520213.1_Missense_Mutation_p.D416N|SNAP91_ENST00000520302.1_Missense_Mutation_p.D693N			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	723					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ATCAAAAGATCACCTAGACCA	0.428000													17	32					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234589	21234589	+	Missense_Mutation	SNP	C	C	T	rs148451559	by1000genomes	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:21234589C>T	ENST00000233242.1	-	26	5278	c.5151G>A	c.(5149-5151)atG>atA	p.M1717I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1717					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACCCAGAATCATGGCCTGAT	0.443000													50	123					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26761387	26761387	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:26761387C>T	ENST00000529632.2	+	13	2845	c.2649C>T	c.(2647-2649)taC>taT	p.Y883Y	SEZ6L_ENST00000404234.3_Silent_p.Y883Y|SEZ6L_ENST00000411842.2_Silent_p.Y80Y|SEZ6L_ENST00000402979.1_Silent_p.Y656Y|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000248933.6_Silent_p.Y883Y|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000360929.3_Silent_p.Y819Y	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	883	Sushi 5.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AAAATGGATACCAAATCCTGT	0.532000													51	152					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171733	4171733	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:4171733C>T	ENST00000078445.2	+	10	1300	c.1153C>T	c.(1153-1155)Cga>Tga	p.R385*	CREB3L3_ENST00000595923.1_Nonsense_Mutation_p.R384*|CREB3L3_ENST00000252587.3_Silent_p.P273P|CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000602257.1_Nonsense_Mutation_p.R383*	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	385					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGGACCCCGACCCGAGGC	0.642000													5	178					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420926	11420926	+	RNA	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:11420926C>T	ENST00000381842.3	-	0	294				PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGACTGGTTTCCTCCTTGTGG	0.627000													143	298					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1090784	1090784	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:1090784A>T	ENST00000441003.2	+	28	3706	c.3679A>T	c.(3679-3681)Aag>Tag	p.K1227*	MUC2_ENST00000359061.5_Nonsense_Mutation_p.K1228*	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1227						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACCCCCAGGAAAGATTCTTAA	0.557000													15	22					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31571214	31571214	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:31571214G>A	ENST00000379416.3	-	28	3115	c.3067C>T	c.(3067-3069)Cat>Tat	p.H1023Y		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1023					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTGTACACATGAAGTAGGGCT	0.522000													4	17					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57649922	57649922	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:57649922C>T	ENST00000269834.1	-	3	445	c.60G>A	c.(58-60)ggG>ggA	p.G20G		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTGCCACTCCCCCTGGGTGA	0.517000													15	63					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508761	37508761	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:37508761T>C	ENST00000374660.1	+	40	4409	c.4310T>C	c.(4309-4311)tTt>tCt	p.F1437S	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.F1318S|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.F1318S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1374						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGGAGATATTTAATTACAAT	0.269000													6	5					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38768436	38768436	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:38768436C>T	ENST00000449082.2	-	16	2747	c.2748G>A	c.(2746-2748)cgG>cgA	p.R916R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	916			R -> W (found in a renal cell carcinoma sample; somatic mutation).		sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGACCTGGATCCGTGCCAGGG	0.587000													51	89					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040243	107040243	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:107040243G>A	ENST00000409886.3	-	20	4267	c.4180C>T	c.(4180-4182)Cgt>Tgt	p.R1394C	RGPD3_ENST00000304514.7_Missense_Mutation_p.R1394C	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1394	RanBD1 2.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ATCAGTATACGAACGTGCTTA	0.358000													92	200					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43439597	43439597	+	RNA	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:43439597C>T	ENST00000406070.2	-	0	485				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TCCTCCAGTCCCATCACCTCG	0.493000													6	319					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228955	3228955	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:3228955G>A	ENST00000217939.6	-	7	7443	c.7289C>T	c.(7288-7290)aCg>aTg	p.T2430M		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2430	Ig-like C2-type 8.					extracellular region		p.T2430M(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)				AATCCACACCGTCTTCCTATC	0.562000													28	15					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540549	28540549	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:28540549G>A	ENST00000452236.2	-	4	3734	c.3117C>T	c.(3115-3117)ttC>ttT	p.F1039F		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1039					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ataataaagagaataatcttg	0.299000													4	49					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179416689	179416689	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:179416689G>A	ENST00000589042.1	-	335	91162	c.90938C>T	c.(90937-90939)tCa>tTa	p.S30313L	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S21248L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S28672L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S27745L|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21440L|TTN_ENST00000359218.5_Missense_Mutation_p.S21373L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28672	Fibronectin type-III 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATAATGCTTGAGACAAGTGG	0.443000													11	73					0	0	1	0	0
RANBP3	8498	broad.mit.edu	37	19	5918540	5918540	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:5918540G>A	ENST00000340578.6	-	15	1497	c.1440C>T	c.(1438-1440)acC>acT	p.T480T	RANBP3_ENST00000541471.1_Silent_p.T352T|RANBP3_ENST00000439268.2_Silent_p.T475T|RANBP3_ENST00000034275.8_Silent_p.T412T|RANBP3_ENST00000591092.1_Silent_p.T407T	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	480	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CCTGGTCCTCGGTGTCCATGG	0.637000													15	31					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66946031	66946031	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:66946031C>T	ENST00000299752.4	-	13	1754	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	CDH16_ENST00000394055.3_Missense_Mutation_p.E521K|CDH16_ENST00000565796.1_Missense_Mutation_p.E521K|CDH16_ENST00000570262.1_Missense_Mutation_p.E441K|CDH16_ENST00000568632.1_Missense_Mutation_p.E424K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	521	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GGAGCTGCCTCATAACTGAGG	0.637000													19	34					0	0	1	0	0
TEX37	200523	broad.mit.edu	37	2	88828792	88828792	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:88828792G>A	ENST00000303254.3	+	4	485	c.343G>A	c.(343-345)Gat>Aat	p.D115N		NM_152670.2	NP_689883.1			testis expressed 37																		AGCTTCCCACGATCTGCACCT	0.602000													20	90					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008498	11008498	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:11008498C>T	ENST00000377004.4	-	12	1693	c.1694G>A	c.(1693-1695)gGc>gAc	p.G565D	C1orf127_ENST00000377008.4_Missense_Mutation_p.G398D	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	416										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GCTTGACAAGCCTCTCAGCAG	0.632000													17	37					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6470231	6470231	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:6470231C>T	ENST00000263125.5	-	18	2158	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N	PRKCQ_ENST00000539722.1_Missense_Mutation_p.D562N|PRKCQ_ENST00000397176.2_Missense_Mutation_p.D624N	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	687	AGC-kinase C-terminal.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ATATTCTGGTCCATGCTGTTG	0.468000													55	99					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2160643	2160643	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:2160643C>T	ENST00000262304.4	-	15	4733	c.4525G>A	c.(4525-4527)Gag>Aag	p.E1509K	PKD1_ENST00000423118.1_Missense_Mutation_p.E1509K	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1509	PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCGGACCCTCGAGCCACCCA	0.662000													15	61					0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93076823	93076823	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:93076823G>A	ENST00000510627.4	-	1	520	c.447C>T	c.(445-447)atC>atT	p.I149I	FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	149	POU-specific.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CTCCCACAGCGATCCCCACAT	0.582000													12	12					0	0	1	0	0
ODF3L1	161753	broad.mit.edu	37	15	76016645	76016645	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:76016645G>A	ENST00000332145.2	+	1	328	c.105G>A	c.(103-105)atG>atA	p.M35I		NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	35										kidney(1)|lung(1)	2						CTGTCATCATGGCCAAGATCA	0.602000													29	54					0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132351978	132351978	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:132351978C>T	ENST00000310125.4	-	1	398	c.310G>A	c.(310-312)Gga>Aga	p.G104R		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	104						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TTCTTCTCTCCTTTCCTGTTG	0.587000													27	48					0	0	1	0	0
SOHLH2	54937	broad.mit.edu	37	13	36764178	36764178	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:36764178C>T	ENST00000379881.3	-	6	634	c.546G>A	c.(544-546)agG>agA	p.R182R	SOHLH2_ENST00000317764.6_Silent_p.R182R|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.R259R|SOHLH2_ENST00000554962.1_Silent_p.R259R	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CATTGCCATTCCTTAAAGATT	0.348000													16	23					0	0	1	0	0
TGFB2	7042	broad.mit.edu	37	1	218536727	218536727	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:218536727C>T	ENST00000366929.4	+	2	865	c.398C>T	c.(397-399)tCc>tTc	p.S133F	TGFB2_ENST00000366930.4_Intron	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	115					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AGCTTGTGCTCCAGACAGTCC	0.448000													9	68					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764026	82764026	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:82764026G>A	ENST00000423517.2	-	3	3177	c.2840C>T	c.(2839-2841)tCc>tTc	p.S947F	PCLO_ENST00000333891.8_Missense_Mutation_p.S947F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	893	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCTGCAGTGGAAATTAAATT	0.532000													3	27					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451522	38451522	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:38451522C>T	ENST00000322350.5	+	19	2995	c.2649C>T	c.(2647-2649)ttC>ttT	p.F883F	EGFLAM_ENST00000397210.3_Silent_p.F26F|EGFLAM_ENST00000514476.1_Silent_p.F26F|EGFLAM_ENST00000354891.3_Silent_p.F891F|EGFLAM_ENST00000397202.2_Silent_p.F249F|EGFLAM_ENST00000336740.6_Silent_p.F649F|EGFLAM_ENST00000506135.1_Silent_p.F26F	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	891	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACAGCGACTTCATTTCCTTGG	0.512000													5	85					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1532654	1532654	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:1532654G>A	ENST00000389470.4	-	17	2540	c.2541C>T	c.(2539-2541)ctC>ctT	p.L847L	INTS1_ENST00000404767.3_Silent_p.L719L			Q8N201	INT1_HUMAN	integrator complex subunit 1	719					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ACCCCGGTGGGAGCTGGATGT	0.672000													15	36					0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342985	29342985	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:29342985C>T	ENST00000396806.3	-	1	83	c.80G>A	c.(79-81)gGg>gAg	p.G27E	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TAAGAAAATCCCAAAGAAGAA	0.383000													12	25					0	0	1	0	0
SERHL2	253190	broad.mit.edu	37	22	42956231	42956231	+	Silent	SNP	G	G	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:42956231G>T	ENST00000327678.5	+	8	675	c.573G>T	c.(571-573)ggG>ggT	p.G191G	SERHL2_ENST00000340239.4_Intron|SERHL2_ENST00000407614.4_Intron|SERHL2_ENST00000335879.5_Silent_p.G127G|RRP7B_ENST00000357802.2_RNA	NM_014509.3	NP_055324.2	Q9H4I8	SEHL2_HUMAN	serine hydrolase-like 2	191						perinuclear region of cytoplasm|peroxisome	hydrolase activity			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						AGGAGTGCGGGGAGCTTCTCC	0.502000													13	446					7.93312e-07	8.015e-07	1	1	0
SEC24D	9871	broad.mit.edu	37	4	119736203	119736203	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:119736203G>A	ENST00000379735.5	-	6	1055	c.784C>T	c.(784-786)Cct>Tct	p.P262S	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.P261S	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	261	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATAGAGTCAGGATCCAGCTTC	0.522000													40	78					0	0	1	0	0
FAM83E	54854	broad.mit.edu	37	19	49116589	49116589	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:49116589G>A	ENST00000263266.3	-	1	230	c.41C>T	c.(40-42)tCc>tTc	p.S14F		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	14										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCTGGGACCGGAGTCCACTCC	0.701000													8	11					0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092751	151092751	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:151092751C>T	ENST00000370340.3	+	3	882	c.615C>T	c.(613-615)atC>atT	p.I205I	MAGEA4_ENST00000393920.1_Silent_p.I205I|MAGEA4_ENST00000276344.2_Silent_p.I205I|MAGEA4_ENST00000393921.1_Silent_p.I205I|MAGEA4_ENST00000360243.2_Silent_p.I205I|MAGEA4_ENST00000370335.1_Silent_p.I205I|MAGEA4_ENST00000370337.4_Silent_p.I205I			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	205	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGATAATCGTCCTGGGCA	0.562000													66	30					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94079205	94079205	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:94079205G>A	ENST00000553484.1	+	28	4037	c.3883G>A	c.(3883-3885)Gac>Aac	p.D1295N	UNC79_ENST00000555664.1_Missense_Mutation_p.D1273N|UNC79_ENST00000393151.2_Missense_Mutation_p.D1273N|UNC79_ENST00000256339.4_Missense_Mutation_p.D1096N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1273						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CGCTGGGATCGACCACCAGAC	0.512000													20	28					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21973894	21973894	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:21973894G>A	ENST00000381418.4	-	18	4906	c.3426C>T	c.(3424-3426)tcC>tcT	p.S1142S	HR_ENST00000312841.8_Silent_p.S1087S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1142	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGGTCTCAGGGGAGAGGAAGT	0.622000													10	13					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128452053	128452053	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:128452053C>T	ENST00000297788.4	+	13	2595	c.2228C>T	c.(2227-2229)tCc>tTc	p.S743F	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	743						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AGCCTTGAGTCCTACGGGAAG	0.493000													38	103					0	0	1	0	0
ASNS	440	broad.mit.edu	37	7	97482409	97482409	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:97482409G>A	ENST00000175506.4	-	13	1967	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	ASNS_ENST00000422745.1_Missense_Mutation_p.S459F|ASNS_ENST00000455086.1_Missense_Mutation_p.S397F|ASNS_ENST00000444334.1_Missense_Mutation_p.S459F|ASNS_ENST00000394308.3_Missense_Mutation_p.S480F|ASNS_ENST00000394309.3_Missense_Mutation_p.S480F|ASNS_ENST00000437628.1_Missense_Mutation_p.S397F	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	480	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTTAAACCAGGAATTCTTAAC	0.388000													15	10					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49226329	49226329	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:49226329G>A	ENST00000308025.3	-	14	1910	c.1831C>T	c.(1831-1833)Cca>Tca	p.P611S		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	611	Helicase ATP-binding.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCCACCGCTGGGGGCATGGTG	0.582000													8	34					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35724284	35724284	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:35724284C>T	ENST00000314888.9	-	6	912	c.559G>A	c.(559-561)Gag>Aag	p.E187K	TLN1_ENST00000540444.1_Missense_Mutation_p.E187K	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	187	FERM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTCTCGTGCTCCTCTACACCC	0.577000													18	48					0	0	1	0	0
LINC00521	256369	broad.mit.edu	37	14	94464524	94464524	+	RNA	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:94464524G>A	ENST00000444118.1	+	0	204					NR_024182.1																						AGCAATCCTGGTGACAAGGAA	0.612000													8	36					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091330	17091330	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:17091330C>T	ENST00000443236.1	-	14	1734	c.1703G>A	c.(1702-1704)cGt>cAt	p.R568H	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	521						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTGTTAAACGAATCGGTTT	0.587000													13	61					0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64573279	64573279	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:64573279C>T	ENST00000242480.3	-	2	1444	c.1119G>A	c.(1117-1119)cgG>cgA	p.R373R	EGR2_ENST00000411732.1_Silent_p.R323R|EGR2_ENST00000439032.1_Silent_p.R373R	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	373					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.R373Q(1)|p.R373R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GCATGCAGATCCGACACTGGA	0.617000													50	68					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070489	114070489	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:114070489C>G	ENST00000462705.1	-	11	1038	c.217G>C	c.(217-219)Gtg>Ctg	p.V73L	ZBTB20_ENST00000357258.3_Missense_Mutation_p.V73L|ZBTB20_ENST00000464560.1_Missense_Mutation_p.V73L|ZBTB20_ENST00000471418.1_Missense_Mutation_p.V73L|ZBTB20_ENST00000474710.1_Missense_Mutation_p.V146L|ZBTB20_ENST00000481632.1_Missense_Mutation_p.V73L|ZBTB20_ENST00000393785.2_Missense_Mutation_p.V73L	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGCACTGACACCACCGACGGG	0.612000													6	39					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53012211	53012211	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:53012211C>T	ENST00000305748.3	-	1	132	c.98G>A	c.(97-99)cGa>cAa	p.R33Q		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	33	Gly-rich.|Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCCCCTGCTCGGTAGGAGGA	0.637000													21	97					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237982396	237982396	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:237982396G>A	ENST00000366574.2	+	101	14811	c.14494G>A	c.(14494-14496)Gaa>Aaa	p.E4832K	RYR2_ENST00000360064.6_Missense_Mutation_p.E4838K|RYR2_ENST00000542537.1_Missense_Mutation_p.E4816K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4832					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGATGAAATCGAAGACCCAGC	0.408000													21	27					0	0	1	0	0
TSPAN1	10103	broad.mit.edu	37	1	46650978	46650978	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:46650978G>A	ENST00000372003.1	+	8	1140	c.676G>A	c.(676-678)Gag>Aag	p.E226K		NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	226						integral to membrane|lysosomal membrane				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				TGGGGGCCTCGAGGTAAGCAG	0.542000													58	102					0	0	1	0	0
IFRD1	3475	broad.mit.edu	37	7	112102354	112102354	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:112102354C>T	ENST00000403825.3	+	8	1088	c.827C>T	c.(826-828)tCt>tTt	p.S276F	IFRD1_ENST00000005558.4_Missense_Mutation_p.S276F|IFRD1_ENST00000535603.1_Missense_Mutation_p.S226F	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	276					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						AGCCTCCTCTCTTGTGATGAT	0.363000													15	22					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038034	62038034	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:62038034G>A	ENST00000354587.3	-	17	2782	c.2606C>T	c.(2605-2607)cCc>cTc	p.P869L	KCNQ2_ENST00000359689.1_Missense_Mutation_p.P861L|KCNQ2_ENST00000357249.2_Missense_Mutation_p.P843L|KCNQ2_ENST00000344462.3_Missense_Mutation_p.P857L|KCNQ2_ENST00000370224.1_Missense_Mutation_p.P869L|KCNQ2_ENST00000370226.1_Missense_Mutation_p.P831L|KCNQ2_ENST00000359125.2_Missense_Mutation_p.P861L|KCNQ2_ENST00000430658.1_Missense_Mutation_p.P830L|KCNQ2_ENST00000360480.3_Missense_Mutation_p.P833L			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	861					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GTCACCAAAGGGACCCTCGCC	0.711000													4	12					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5076244	5076244	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:5076244G>A	ENST00000574788.1	+	38	6422	c.4192G>A	c.(4192-4194)Gat>Aat	p.D1398N	USP6_ENST00000250066.6_Missense_Mutation_p.D1398N|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.D1081N			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1398					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTCTGAGTCTGATTACGAAAA	0.453000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								8	28					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179296772	179296772	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:179296772G>A	ENST00000356834.3	-	17	2825	c.2788C>T	c.(2788-2790)Cca>Tca	p.P930S	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.P930S|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.P106S|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.P88S	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	930						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTCACCTGGGGGAAGGTGT	0.622000													4	20					0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205548882	205548882	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:205548882G>A	ENST00000367147.4	+	2	327	c.234G>A	c.(232-234)ctG>ctA	p.L78L	MFSD4_ENST00000536357.1_Silent_p.L78L|MFSD4_ENST00000539267.1_Silent_p.L78L	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	78					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CCTGCAGCCTGGCCCAGTCAC	0.617000													19	147					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997435	19997435	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:19997435C>T	ENST00000391403.2	-	1	443	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	114						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CAGAGTATTTCATGCACAAGT	0.378000													47	87					0	0	1	0	0
DUSP8	1850	broad.mit.edu	37	11	1578648	1578648	+	Silent	SNP	C	C	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:1578648C>A	ENST00000397374.3	-	7	1105	c.978G>T	c.(976-978)ggG>ggT	p.G326G	DUSP8_ENST00000331588.4_Silent_p.G326G	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	326	Pro-rich.|Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GCAGCGGGGCCCCGGCGGCAG	0.766000													8	10					5.4927e-09	5.58784e-09	1	1	0
VPS39	23339	broad.mit.edu	37	15	42470756	42470756	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:42470756G>A	ENST00000318006.5	-	9	893	c.731C>T	c.(730-732)cCc>cTc	p.P244L	VPS39_ENST00000348544.4_Missense_Mutation_p.P255L	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	255	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		AATGATGTAGGGAGGCTGGTG	0.458000													27	51					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99697345	99697345	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:99697345A>G	ENST00000303887.5	-	3	788	c.143T>C	c.(142-144)cTg>cCg	p.L48P	MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.L48P	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	48					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|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GTCCACATACAGAGCCACCTG	0.537000													34	102					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113724787	113724787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:113724787C>T	ENST00000295878.3	-	10	1582	c.1436G>A	c.(1435-1437)tGg>tAg	p.W479*	KIAA1407_ENST00000545063.1_Nonsense_Mutation_p.W310*	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	479										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AGGCTTTTCCCACAAAGGGGG	0.473000													15	70					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82763878	82763878	+	Silent	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:82763878C>T	ENST00000423517.2	-	3	3325	c.2988G>A	c.(2986-2988)gtG>gtA	p.V996V	PCLO_ENST00000333891.8_Silent_p.V996V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	942					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.V996V(4)|p.V942V(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCCTTTTTCACAGGTATAC	0.468000													8	38					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390130	197390130	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:197390130G>A	ENST00000367400.3	+	6	1307	c.1171_splice	c.e6-1	p.G391_splice	CRB1_ENST00000535699.1_Splice_Site_p.G322_splice|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367399.2_Splice_Site_p.G279_splice|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000543483.1_Splice_Site_p.G90_splice|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Splice_Site_p.G391_splice	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	391	EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TATTTAACAGGAATCCACTGC	0.348000													15	34					0	0	1	0	0
IL22	50616	broad.mit.edu	37	12	68647045	68647045	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:68647045C>T	ENST00000538666.1	-	2	254	c.184G>A	c.(184-186)Gag>Aag	p.E62K	IL22_ENST00000328087.4_Missense_Mutation_p.E62K			Q9GZX6	IL22_HUMAN	interleukin 22	62					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		ATGTATACCTCCTTAGCCAGC	0.488000													13	31					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150703561	150703561	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:150703561C>T	ENST00000297494.3	+	15	2156	c.1799C>T	c.(1798-1800)tCc>tTc	p.S600F	NOS3_ENST00000461406.1_Missense_Mutation_p.S394F	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	600	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TACAACAGCTCCCCTCGGCCG	0.532000													30	185					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6999988	6999988	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:6999988G>A	ENST00000389658.3	-	31	4484	c.4391C>T	c.(4390-4392)cCc>cTc	p.P1464L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1464	Laminin EGF-like 16.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACACAAGTGGGACTAAAACT	0.403000													11	25					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108477266	108477266	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:108477266G>A	ENST00000408999.3	+	13	1880	c.1803G>A	c.(1801-1803)ggG>ggA	p.G601G	RGPD4_ENST00000354986.4_Silent_p.G601G	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	601					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AATACATAGGGAGAAGTGTTC	0.318000													34	70					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76446342	76446342	+	Silent	SNP	G	G	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:76446342G>A	ENST00000389840.5	-	68	11116	c.10992C>T	c.(10990-10992)tcC>tcT	p.S3664S	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.S3673S					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCACCTTGAGGGAGAACTGGT	0.612000													6	29					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2901108	2901108	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:2901108delG	ENST00000355842.3	+	10	1970	c.1107delG	c.(1105-1107)aafs	p.K369fs	ADD1_ENST00000398125.1_Frame_Shift_Del_p.K369fs|ADD1_ENST00000398129.1_Frame_Shift_Del_p.K369fs|ADD1_ENST00000264758.7_Frame_Shift_Del_p.K369fs|ADD1_ENST00000446856.1_Frame_Shift_Del_p.K369fs|ADD1_ENST00000398123.2_Frame_Shift_Del_p.K369fs|ADD1_ENST00000503455.2_Frame_Shift_Del_p.K369fs|ADD1_ENST00000513328.2_Frame_Shift_Del_p.K369fs			P35611	ADDA_HUMAN	adducin 1 (alpha)	369					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGCCTCCCAAGTGGCAGATTG	0.507													13	37	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	RNA	INS	-	-	G	rs140221514		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728													2	4	---	---	---	---					
SIRT1	23411	broad.mit.edu	37	10	69644881	69644883	+	In_Frame_Del	DEL	GGC	GGC	-	rs36062014		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:69644881_69644883delGGC	ENST00000212015.6	+	1	455_457	c.402_404delGGC	c.(400-405)gag>ga	p.EA134del		NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	134	Interaction with HIST1H1E.|Poly-Glu.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						aggaggaagaggcggcggcggcg	0.700													2	4	---	---	---	---					
PHC1	1911	broad.mit.edu	37	12	9085271	9085272	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:9085271_9085272delGT	ENST00000433083.2	+	7	1228_1229	c.1083_1084delGT	c.(1081-1086)catcfs	p.QF361fs	PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000536844.1_Frame_Shift_Del_p.QF185fs|PHC1_ENST00000543824.1_Frame_Shift_Del_p.QF406fs|PHC1_ENST00000544916.1_Frame_Shift_Del_p.QF406fs			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	406					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ACCAGCAGCAGTTCCAGCACCG	0.574													21	102	---	---	---	---					
SFSWAP	6433	broad.mit.edu	37	12	132211599	132211599	+	Splice_Site	DEL	T	T	-			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:132211599delT	ENST00000261674.4	+	6	1086		c.e6+2		SFSWAP_ENST00000541286.1_Splice_Site	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)						mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CTGATGAAGGTTTTTATCTCA	0.368													8	16	---	---	---	---					
RP11-2G1.1	0	broad.mit.edu	37	14	48959171	48959172	+	RNA	DEL	AC	AC	-			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:48959171_48959172delAC	ENST00000555693.1	-	0	123																											GTCAGGCTGTACAGGTTTATGG	0.470													2	4	---	---	---	---					
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gct>g	p.VA565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478													7	183	---	---	---	---					
LOC100287072	100287072	broad.mit.edu	37	17	20623668	20623668	+	RNA	DEL	T	T	-	rs151078009		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:20623668delT	ENST00000578210.1	+	0	150					NR_073509.1																						gcccggctaattttttttttt	0.572													3	3	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42605990	42605992	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:42605990_42605992delCTG	ENST00000359486.3	-	1	5456_5458	c.5320_5322delCAG	c.(5320-5322)del	p.Q1774del	TCF20_ENST00000404876.1_In_Frame_Del_p.Q75del|TCF20_ENST00000335626.4_In_Frame_Del_p.Q1774del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1774					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTGCTCCTTCTGCTGCTGCTGC	0.601													7	561	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:42610573_42610575delAGG	ENST00000359486.3	-	1	873_875	c.737_739delCCT	c.(736-741)ttc>t	p.SF246del	TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	246	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507													7	365	---	---	---	---					
ZFX	7543	broad.mit.edu	37	X	24228894	24228894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:24228894delT	ENST00000379177.1	+	11	2246	c.1819delT	c.(1819-1821)gtfs	p.C607fs	ZFX_ENST00000379188.3_Frame_Shift_Del_p.C607fs|ZFX_ENST00000304543.5_Frame_Shift_Del_p.C607fs|ZFX_ENST00000539115.1_Frame_Shift_Del_p.C378fs|ZFX_ENST00000338565.3_Frame_Shift_Del_p.C557fs|ZFX_ENST00000540034.1_Frame_Shift_Del_p.C646fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GCCATTCAAGTGTGACATTTG	0.433													23	17	---	---	---	---					
