Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ERBB4	2066	broad.mit.edu	37	2	212288939	212288939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:212288939C>T	uc002veg.1	-	22	2905	c.2807G>A	c.(2806-2808)gGa>gAa	p.G936E	ERBB4_uc002veh.1_Missense_Mutation_p.G936E|ERBB4_uc010zji.1_Missense_Mutation_p.G926E|ERBB4_uc010zjj.1_Missense_Mutation_p.G926E	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	936	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.G936R(2)|p.K935I(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAAACGTTCTCCTTTCTCTAA	0.398000										TSP Lung(8;0.080)				36			14		0	0	0.00185496	0	0
NAA15	80155	broad.mit.edu	37	4	140278564	140278564	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:140278564C>G	uc003ihu.1	+	10	1368	c.1112C>G	c.(1111-1113)aCc>aGc	p.T371S		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 15, NatA auxiliary subunit (NAA15), mRNA.	371					N-terminal protein amino acid acetylation|angiogenesis|cell differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAACCACCAACCACATTACTT	0.408000														33			18		0	0	0.000958276	0	0
SLC5A4	6527	broad.mit.edu	37	22	32626959	32626959	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr22:32626959G>A	uc003ami.3	-	9	1127	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	375					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCTACCTTGGGGCATCAGTT	0.532000														72			10		0	0	0.000673444	0	0
ITGAD	3681	broad.mit.edu	37	16	31424248	31424248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr16:31424248G>A	uc010cap.1	+	14	1849	c.1800G>A	c.(1798-1800)atG>atA	p.M600I	ITGAD_uc002ebv.1_Missense_Mutation_p.M599I	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	599					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGGACTGATGGACCTGGCCG	0.667000														36			26		0	0	0.000720815	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12883539	12883539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr17:12883539C>T	uc002gnr.4	+	18	2255	c.1928C>T	c.(1927-1929)aCc>aTc	p.T643I	ARHGAP44_uc010vvk.2_Missense_Mutation_p.T643I|ARHGAP44_uc010vvl.2_Missense_Mutation_p.T637I|ARHGAP44_uc002gns.4_Missense_Mutation_p.T437I|ARHGAP44_uc010vvm.2_Missense_Mutation_p.T637I|ARHGAP44_uc010vvn.2_Intron	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	643					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						AGTCCTCACACCCTCCGGAAA	0.627000														6			7		0	0	0.000157383	0	0
DNAH5	1767	broad.mit.edu	37	5	13759068	13759068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:13759068G>A	uc003jfd.2	-	60	10348	c.10306C>T	c.(10306-10308)Cgc>Tgc	p.R3436C	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3436	Stalk (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)					AGGAGATGGCGATTCTCTTGC	0.547000									Kartagener syndrome					86			38		0	0	0.00195071	0	0
NEB	4703	broad.mit.edu	37	2	152510568	152510568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:152510568C>T	uc021vrb.1	-	49	6882	c.6853G>A	c.(6853-6855)Gat>Aat	p.D2285N	NEB_uc002txu.3_Missense_Mutation_p.D2285N|NEB_uc021vrc.1_Missense_Mutation_p.D2285N|NEB_uc010fnx.3_Missense_Mutation_p.D2285N|NEB_uc021vrd.1_Missense_Mutation_p.D2285N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2285					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACTGGGAGATCATAGCCTTTC	0.323000														37			14		0	0	0.000566183	0	0
GALNT8	26290	broad.mit.edu	37	12	4872486	4872486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:4872486C>T	uc001qne.1	+	7	1519	c.1427C>T	c.(1426-1428)aCt>aTt	p.T476I		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	476						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AAATGTAAAACTTTTGACTGG	0.388000														37			26		0	0	0.000586117	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				79			44		3.05275e-18	1.60963e-17	0.000680045	1	0
DSCR6	53820	broad.mit.edu	37	21	38390367	38390367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr21:38390367G>A	uc002yvv.3	+	3	643	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	DSCR6_uc011aec.2_Silent_p.R31R|DSCR6_uc010gnd.3_Silent_p.R31R	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	145						nucleus				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				AGGTCGGCAGGAAAATGGCCC	0.632000														8			15		0	0	0.000422831	0	0
DNAH7	56171	broad.mit.edu	37	2	196640651	196640651	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:196640651G>A	uc002utj.4	-	59	11222	c.11121C>T	c.(11119-11121)atC>atT	p.I3707I	DNAH7_uc002uti.4_Silent_p.I190I	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3707					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						TCATCCCAAAGATTTCTGGTG	0.408000														33			15		0	0	0.000308642	0	0
AFF4	27125	broad.mit.edu	37	5	132270456	132270456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:132270456C>T	uc003kyd.3	-	2	709	c.301G>A	c.(301-303)Ggc>Agc	p.G101S	AFF4_uc011cxk.2_5'UTR|AFF4_uc003kye.1_Missense_Mutation_p.G101S|AFF4_uc003kyf.4_Missense_Mutation_p.G101S	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	101					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGATGAGAGCCTCCATGTCTC	0.468000														36			20		0	0	0.00188189	0	0
GLT1D1	144423	broad.mit.edu	37	12	129467575	129467575	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:129467575G>A	uc010tbh.1	+	12	1005	c.996G>A	c.(994-996)caG>caA	p.Q332Q	GLT1D1_uc001uhx.1_Silent_p.Q247Q|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	327					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		ATTCATGGCAGGTGGAAAGAG	0.483000														84			51		0	0	0.000781405	0	0
CNBD1	168975	broad.mit.edu	37	8	88297023	88297023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr8:88297023G>A	uc003ydy.2	+	6	937	c.889G>A	c.(889-891)Gga>Aga	p.G297R		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	297										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CCCAGCAAAGGGATATGCAAA	0.358000														9			9		0	0	0.000442599	0	0
SORCS1	114815	broad.mit.edu	37	10	108439087	108439087	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:108439087T>C	uc001kyl.3	-	11	1849	c.1667A>G	c.(1666-1668)aAt>aGt	p.N556S	SORCS1_uc021pxw.1_Missense_Mutation_p.N556S|SORCS1_uc009xxs.3_Missense_Mutation_p.N556S|SORCS1_uc001kym.3_Missense_Mutation_p.N556S|SORCS1_uc001kyn.2_Missense_Mutation_p.N556S|SORCS1_uc001kyo.3_Missense_Mutation_p.N556S	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	556						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)		AGAACCTATATTACCTAGAAA	0.428000														40			17		0	0	0.00121646	0	0
UBR1	197131	broad.mit.edu	37	15	43244481	43244481	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:43244481G>A	uc001zqq.3	-	44	5067	c.5001C>T	c.(4999-5001)ttC>ttT	p.F1667F		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1667					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CTCACTTTAGGAAAATGCAGA	0.458000														82			40		0	0	0.00170553	0	0
RUNX2	860	broad.mit.edu	37	6	45390445	45390445	+	Silent	SNP	A	G	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:45390445A>G	uc011dvx.2	+	2	384	c.174A>G	c.(172-174)caA>caG	p.Q58Q	RUNX2_uc011dvy.2_Silent_p.Q58Q|RUNX2_uc003oxt.3_Silent_p.Q44Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	58	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000														73			4		0	0	0.000602214	0	0
TRPM1	4308	broad.mit.edu	37	15	31295094	31295094	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:31295094C>T	uc021sia.1	-	26	4174	c.3860G>A	c.(3859-3861)cGg>cAg	p.R1287Q	TRPM1_uc010azy.3_Missense_Mutation_p.R1155Q|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R1270Q|TRPM1_uc001zfm.3_Missense_Mutation_p.R1248Q	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1248					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)		AGAAGAAGCCCGGGACCGTGC	0.473000														53			20		0	0	0.00188189	0	0
ZNF534	147658	broad.mit.edu	37	19	52941587	52941587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr19:52941587C>T	uc002pzk.3	+	3	980	c.913C>T	c.(913-915)Cat>Tat	p.H305Y	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.H292Y	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TAGGAAAATTCATACTGGAGA	0.393000														30			12		0	0	0.00136819	0	0
KIFC3	3801	broad.mit.edu	37	16	57794744	57794744	+	Missense_Mutation	SNP	G	A	A	rs147963864		TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr16:57794744G>A	uc002emq.3	-	15	2323	c.2126C>T	c.(2125-2127)gCt>gTt	p.A709V	KIFC3_uc010vhw.2_Missense_Mutation_p.A607V|KIFC3_uc002emn.3_Non-coding_Transcript|KIFC3_uc002emm.3_Missense_Mutation_p.A570V|KIFC3_uc010vhx.2_Missense_Mutation_p.A567V|KIFC3_uc010cdf.3_Missense_Mutation_p.A570V|KIFC3_uc002emo.4_Missense_Mutation_p.A570V|KIFC3_uc010vhy.2_Missense_Mutation_p.A651V|KIFC3_uc002emp.3_Missense_Mutation_p.A709V|KIFC3_uc010vhz.2_Missense_Mutation_p.A731V	NM_001130100	NP_001123571	Q9BVG8	KIFC3_HUMAN	Homo sapiens kinesin family member C3 (KIFC3), transcript variant 2, mRNA.	709					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GCGCAGGGCAGCAATGACGTC	0.672000														21			10		0	0	0.000978159	0	0
ARMCX1	51309	broad.mit.edu	37	X	100808469	100808469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chrX:100808469C>T	uc022cak.1	+	0	556	c.556C>T	c.(556-558)Cct>Tct	p.P186S	ARMCX1_uc004ehv.3_Missense_Mutation_p.P186S|ARMCX1_uc004ehw.3_Missense_Mutation_p.P186S	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	Homo sapiens armadillo repeat containing, X-linked 1 (ARMCX1), mRNA.	186						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						TACAACATGGCCTGTCCGGAG	0.532000														11			60		0	0	0.000781405	0	0
C18orf26	284254	broad.mit.edu	37	18	52265075	52265075	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr18:52265075T>G	uc002lfq.1	+	2	378	c.332T>G	c.(331-333)aTg>aGg	p.M111R		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	111						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		GACTGGTCTATGTGGAAAGTC	0.343000														34			42		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179485350	179485350	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:179485350C>T	uc021vsy.1	-	196	38419	c.38194G>A	c.(38194-38196)Gaa>Aaa	p.E12732K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E6427K|TTN_uc021vta.1_Missense_Mutation_p.E6360K|TTN_uc021vtb.1_Missense_Mutation_p.E6235K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13659							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)			CTAAGGTCTTCCTCTGTTGTA	0.313000														21			27		0	0	0.000878237	0	0
PLCB4	5332	broad.mit.edu	37	20	9417698	9417698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr20:9417698G>A	uc021wam.1	+	25	2642	c.2627G>A	c.(2626-2628)gGa>gAa	p.G876E	PLCB4_uc010gbw.1_Missense_Mutation_p.G876E|PLCB4_uc010gbx.3_Missense_Mutation_p.G888E|PLCB4_uc021wal.1_Missense_Mutation_p.G876E|PLCB4_uc002wnh.3_Missense_Mutation_p.G723E	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	876					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GACAAGAAAGGAAAGGCCAAC	0.498000														9			9		0	0	0.000274275	0	0
C12orf63	374467	broad.mit.edu	37	12	97078996	97078996	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:97078996C>T	uc021rcc.1	+	8	1347	c.1269C>T	c.(1267-1269)gtC>gtT	p.V423V				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	423										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AAGGAGCAGTCATATCAGCAA	0.498000														24			15		0	0	0.000422831	0	0
CYP27C1	339761	broad.mit.edu	37	2	127950834	127950834	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:127950834C>T	uc002tod.2	-	6	969	c.838G>A	c.(838-840)Gat>Aat	p.D280N	CYP27C1_uc021vnn.1_Missense_Mutation_p.D280N	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	280						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		AAGTTCTCATCCTGGTACGAT	0.537000														47			24		0	0	0.00106085	0	0
COBL	23242	broad.mit.edu	37	7	51097022	51097022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr7:51097022C>T	uc003tps.3	-	10	2127	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	COBL_uc003tpr.4_Missense_Mutation_p.E591K|COBL_uc011kcl.2_Missense_Mutation_p.E591K|COBL_uc003tpp.4_Missense_Mutation_p.E377K|COBL_uc003tpq.4_Missense_Mutation_p.E532K|COBL_uc003tpo.4_Missense_Mutation_p.E133K	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	591										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTTGCCTTTTCATGGGGCTGG	0.537000														39			12		0	0	0.00136819	0	0
PSD4	23550	broad.mit.edu	37	2	113941069	113941069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:113941069C>T	uc002tjc.3	+	1	1219	c.1036C>T	c.(1036-1038)Cct>Tct	p.P346S	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.P345S|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	346					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGCAGCACCTCCTGGTCACGG	0.627000														21			10		0	0	0.000442599	0	0
BOC	91653	broad.mit.edu	37	3	113004374	113004374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr3:113004374C>T	uc003dzx.3	+	18	3740	c.3119C>T	c.(3118-3120)cCt>cTt	p.P1040L	BOC_uc003dzy.3_Missense_Mutation_p.P1040L|BOC_uc003dzz.3_Missense_Mutation_p.P1041L|BOC_uc003eab.3_Missense_Mutation_p.P741L|BOC_uc003eac.3_Missense_Mutation_p.P355L	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	1040					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CCCGACAGTCCTGTCCTGGAA	0.617000														18			8		0	0	0.000157383	0	0
abParts	0	broad.mit.edu	37	22	22453352	22453352	+	RNA	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr22:22453352C>T	uc021wml.1	+	6		c.473C>T								Parts of antibodies, mostly variable regions.																		CAGGAGCCATCGTTCTCAGTG	0.522000														27			10		0	0	0.000978159	0	0
C5orf20	140947	broad.mit.edu	37	5	134782686	134782686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:134782686G>A	uc003lav.3	-	0	353	c.113C>T	c.(112-114)cCa>cTa	p.P38L		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA.	38						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGGCACCCTGGGAACTCTGG	0.612000														15			7		0	0	0.00198382	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117712	117712	+	RNA	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chrGL000205.1:117712C>T	uc002kgk.4	+	0		c.1090C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGCTCGCATTCGTGGGGAGAT	0.617000														25			6		0	0	0.00116845	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490773	141490773	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr7:141490773C>T	uc003vwr.1	+	0	757	c.612C>T	c.(610-612)gtC>gtT	p.V204V		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.	204					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					AGATGAAGGTCCATTCAGCTG	0.473000														48			27		0	0	0.00106085	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147735	100147735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:100147735C>T	uc003knk.3	-	4	1224	c.896G>A	c.(895-897)gGa>gAa	p.G299E		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	299					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GGGCCAGAATCCATACAGGTG	0.393000														32			23		0	0	0.00278032	0	0
MIR548I2	100302277	broad.mit.edu	37	4	9557806	9557806	+	RNA	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:9557806G>A	uc021xlt.1	-	0		c.132C>T								Homo sapiens microRNA 548i-2 (MIR548I2), microRNA.																		GATCAGGGACGAACTTTGTTA	0.383000														64			28		0	0	0.00127121	0	0
ZNF217	7764	broad.mit.edu	37	20	52198037	52198037	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr20:52198037G>A	uc002xwq.4	-	0	1671	c.1329C>T	c.(1327-1329)gaC>gaT	p.D443D	ZNF217_uc010gij.1_Silent_p.D435D	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	443					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CCTCAGATCCGTCTTCAGAAC	0.622000														37			21		0	0	0.00047179	0	0
MST1P9	11223	broad.mit.edu	37	1	17084510	17084510	+	Silent	SNP	G	A	A	rs61769731	by1000genomes	TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:17084510G>A	uc010ock.2	-	11	1588	c.1588C>T	c.(1588-1590)Cta>Tta	p.L530L	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Silent_p.L130L					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.L525L(2)|p.L530L(2)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						ACCCGCTGTAGGCCTGGCTCT	0.577000														40			7		0	0	0.00198382	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140216153	140216153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:140216153G>A	uc003lhq.2	+	0	2185	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.E729K	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	737					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGTCCTCTGAGGGCGCATG	0.617000														34			20		0	0	0.00121646	0	0
CSMD2	114784	broad.mit.edu	37	1	33998708	33998708	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:33998708G>A	uc001bxm.1	-	63	10290	c.10113C>T	c.(10111-10113)tcC>tcT	p.S3371S	CSMD2_uc001bxn.1_Silent_p.S3227S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3227						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)				TGCGGTGCTCGGAGCCACCCT	0.662000														17			14		0	0	0.00244969	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411489	23411489	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chrX:23411489G>A	uc004dal.4	+	2	1862	c.1854G>A	c.(1852-1854)ctG>ctA	p.L618L		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	618					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	p.L618L(1)|p.L513L(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ATTCCTTTCTGAAAGCCCCTC	0.388000														16			38		0	0	0.00148497	0	0
SPOCD1	90853	broad.mit.edu	37	1	32256742	32256742	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:32256742G>A	uc001bts.1	-	15	3171	c.3113C>T	c.(3112-3114)tCc>tTc	p.S1038F	SPOCD1_uc001btr.1_3'UTR|SPOCD1_uc001btu.3_Missense_Mutation_p.S1025F|SPOCD1_uc001btv.3_Missense_Mutation_p.S518F	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	1038					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		ACTGTTGAAGGAGACCATCTT	0.582000														11			15		0	0	0.000566183	0	0
OR10C1	442194	broad.mit.edu	37	6	29408527	29408527	+	Silent	SNP	C	T	T	rs138514441	byFrequency	TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:29408527C>T	uc011dlp.2	+	0	812	c.735C>T	c.(733-735)atC>atT	p.I245I	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCCACCTGATCATGGTCTCCC	0.582000														242			130		0	0	0.000781405	0	0
CLEC6A	93978	broad.mit.edu	37	12	8618204	8618204	+	Silent	SNP	G	C	C			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:8618204G>C	uc001qum.1	+	3	465	c.348G>C	c.(346-348)gtG>gtC	p.V116V		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	Homo sapiens C-type lectin domain family 6, member A (CLEC6A), mRNA.	116	C-type lectin.				defense response to fungus|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine secretion	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					ATTTGGTTGTGTTCAACACAG	0.363000														43			19		0	0	0.00047179	0	0
ZNF681	148213	broad.mit.edu	37	19	23937634	23937634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr19:23937634C>T	uc002nrk.4	-	2	359	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	ZNF681_uc002nrl.4_Missense_Mutation_p.E4K|ZNF681_uc002nrj.4_Missense_Mutation_p.E4K|ZNF681_uc002nrm.1_Non-coding_Transcript	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CCTGGGGGTTCGGCCACCATC	0.418000														55			37		0	0	0.00170553	0	0
MAST4	375449	broad.mit.edu	37	5	66449399	66449399	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:66449399C>T	uc021xzk.1	+	25	3947	c.3639C>T	c.(3637-3639)ctC>ctT	p.L1213L	MAST4_uc003jut.2_Silent_p.L1024L|MAST4_uc003juw.3_Silent_p.L952L	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1216	PDZ.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTATAGAACTCCTACTGAAGG	0.493000														6			4		0	0	0.00024832	0	0
TNFRSF13C	115650	broad.mit.edu	37	22	42321458	42321458	+	Silent	SNP	T	G	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr22:42321458T>G	uc010gyp.1	-	2	515	c.471A>C	c.(469-471)ccA>ccC	p.P157P	bK250D10.C22.8_uc003bba.1_Intron|TNFRSF13C_uc003bbl.2_Silent_p.P156P	NM_052945	NP_443177	Q96RJ3	TR13C_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13C (TNFRSF13C), mRNA.	156						integral to membrane	receptor activity	p.P156P(2)		lung(2)|urinary_tract(1)	3						TGTGGCCAGGTGGGGTGGTTC	0.637000														80			8		0	0	0.000958276	0	0
NRP1	8829	broad.mit.edu	37	10	33481310	33481310	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:33481310C>T	uc001iwx.4	-	12	2484	c.1961G>A	c.(1960-1962)tGg>tAg	p.W654*	NRP1_uc001iwv.4_Nonsense_Mutation_p.W654*|NRP1_uc001iwy.4_Nonsense_Mutation_p.W647*|NRP1_uc009xlz.3_Nonsense_Mutation_p.W647*|NRP1_uc001iww.4_Nonsense_Mutation_p.W466*	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	654	MAM.				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)	GTGAGAGCCCCAGCCAAATTC	0.453000														168			98		0	0	0.000781405	0	0
SLIT2	9353	broad.mit.edu	37	4	20544138	20544138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:20544138C>T	uc003gpr.1	+	20	2369	c.2165C>T	c.(2164-2166)tCc>tTc	p.S722F	SLIT2_uc003gps.1_Missense_Mutation_p.S714F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	722	LRRNT 4.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AATAGTTGCTCCCCACTTTCT	0.418000														105			62		0	0	0.000781405	0	0
DJ439558	0	broad.mit.edu	37	10	66585344	66585344	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:66585344G>A	uc021prl.1	-	1		c.26_splice	c.e1+1		ANXA2P3_uc009xpm.1_Non-coding_Transcript					Annexin II and uses thereof.																		TACTATTTACGAAATCCTGTG	0.488000														6			3		0	0	0.00024832	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659737	121659737	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr3:121659737C>T	uc003eep.2	+	21	2226	c.2073C>T	c.(2071-2073)atC>atT	p.I691I	SLC15A2_uc011bjn.1_Silent_p.I660I	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	691					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TCTTCTCCATCATGGGCTACT	0.463000														54			32		0	0	0.000953801	0	0
DCHS2	54798	broad.mit.edu	37	4	155157701	155157701	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:155157701G>A	uc003inw.2	-	24	6738	c.6738C>T	c.(6736-6738)atC>atT	p.I2246I		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2246	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGATGTTGTAGATGATTTCTG	0.408000														56			24		0	0	0.00229938	0	0
OR4C6	219432	broad.mit.edu	37	11	55433545	55433545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr11:55433545G>A	uc010rik.2	+	0	903	c.903G>A	c.(901-903)atG>atA	p.M301I		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						AACTCTGGATGAAATGGGAGG	0.413000														3			13		0	0	0.00185496	0	0
ATM	472	broad.mit.edu	37	11	108199955	108199955	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr11:108199955C>T	uc001pkb.1	+	48	7682	c.7297C>T	c.(7297-7299)Cag>Tag	p.Q2433*	ATM_uc009yxr.1_Nonsense_Mutation_p.Q2433*|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Nonsense_Mutation_p.Q1085*|ATM_uc001pkg.1_Nonsense_Mutation_p.Q790*	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2433	FAT.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACATAAAATTCAGACAAACAG	0.358000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				3			8		0	0	0.000157383	0	0
ADCY1	107	broad.mit.edu	37	7	45662343	45662343	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr7:45662343G>A	uc003tne.4	+	4	1038	c.1020_splice	c.e4+1	p.T340_splice	ADCY1_uc003tnd.3_Splice_Site_p.T115_splice	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	340					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ATTAGCCACGGTAAGTGCAGC	0.478000														18			7		0	0	0.000157383	0	0
PRB4	5545	broad.mit.edu	37	12	11461664	11461664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:11461664C>T	uc001qzf.1	-	2	287	c.253G>A	c.(253-255)Gga>Aga	p.G85R	PRB4_uc001qzt.3_Missense_Mutation_p.G85R	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	85	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGGTTGCCTCCTTGTGGGGGT	0.612000										HNSCC(22;0.051)				294			54		0	0	0.000781405	0	0
LELP1	149018	broad.mit.edu	37	1	153177401	153177401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:153177401C>T	uc001fbl.3	+	1	328	c.218C>T	c.(217-219)cCc>cTc	p.P73L	LELP1_uc021ozv.1_Missense_Mutation_p.P73L	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	73	Cys/Pro-rich.							p.Q72L(1)|p.P73A(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTCCCCAGCCCTGCACCAAG	0.617000														37			16		0	0	0.000422831	0	0
SETD2	29072	broad.mit.edu	37	3	47098526	47098526	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr3:47098526G>A	uc003cqv.3	-	15	7035	c.6949C>T	c.(6949-6951)Caa>Taa	p.Q2317*	SETD2_uc003cqs.3_Nonsense_Mutation_p.Q2250*|SETD2_uc003cqt.1_Intron	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2250	Gln-rich.|Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTGGAGTCTTGGTGTACTACA	0.547000			"""N, F, S, Mis"""		clear cell renal carcinoma									29			25		0	0	0.000586117	0	0
RBM34	23029	broad.mit.edu	37	1	235299069	235299069	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:235299069G>A	uc001hwn.3	-	9	1137	c.906C>T	c.(904-906)gcC>gcT	p.A302A	RBM34_uc001hwo.3_Non-coding_Transcript|RBM34_uc001hwp.3_Non-coding_Transcript	NM_015014	NP_055829	P42696	RBM34_HUMAN	Homo sapiens RNA binding motif protein 34 (RBM34), transcript variant 1, mRNA.	302	RRM 2.					nucleolus	RNA binding|nucleotide binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			GCTTCTCAATGGCAGATTCTT	0.413000														47			67		0	0	0.000781405	0	0
GPR110	266977	broad.mit.edu	37	6	46979926	46979926	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:46979926G>A	uc003oyt.3	-	9	1132	c.933C>T	c.(931-933)ttC>ttT	p.F311F	GPR110_uc011dwl.2_5'UTR	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	311					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAATCATACTGAAATTCTAGA	0.393000														38			29		0	0	0.00178596	0	0
EVPL	2125	broad.mit.edu	37	17	74005145	74005145	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr17:74005145C>T	uc010wss.1	-	21	4435	c.4207G>A	c.(4207-4209)Gac>Aac	p.D1403N	EVPL_uc002jqi.2_Missense_Mutation_p.D1381N|EVPL_uc010wst.1_Missense_Mutation_p.D851N	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1381	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGCTTCGGGTCCTTCTGGGTG	0.687000														115			32		0	0	0.0024448	0	0
ATP8A2	51761	broad.mit.edu	37	13	26542775	26542775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr13:26542775G>A	uc001uqk.3	+	34	3477	c.3335G>A	c.(3334-3336)cGa>cAa	p.R1112Q	ATP8A2_uc010tdi.2_Missense_Mutation_p.R1047Q|ATP8A2_uc010tdj.2_Non-coding_Transcript	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	1072					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACCAAGTCTCGAGTCCTGGGA	0.537000														24			10		0	0	0.000978159	0	0
CORO2B	10391	broad.mit.edu	37	15	69007647	69007647	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:69007647C>T	uc002arj.4	+	7	1258	c.964C>T	c.(964-966)Cta>Tta	p.L322L	CORO2B_uc021spj.1_Silent_p.L317L|CORO2B_uc010bic.3_Silent_p.L317L|CORO2B_uc002ark.3_Silent_p.L89L	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	Homo sapiens coronin, actin binding protein, 2B (CORO2B), transcript variant 1, mRNA.	322					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCAGAAAGGCCTAGGTAAGTG	0.592000														26			30		0	0	0.001512	0	0
HMMR	3161	broad.mit.edu	37	5	162917552	162917552	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:162917552A>G	uc003lzh.3	+	16	2301	c.2119A>G	c.(2119-2121)Aaa>Gaa	p.K707E	HMMR_uc003lzf.3_Missense_Mutation_p.K706E|HMMR_uc003lzg.3_Missense_Mutation_p.K691E|HMMR_uc011dem.2_Missense_Mutation_p.K620E|BC035392_uc003lzi.3_Intron	NM_001142556	NP_001136028	O75330	HMMR_HUMAN	Homo sapiens hyaluronan-mediated motility receptor (RHAMM) (HMMR), transcript variant 1, mRNA.	706						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		GACCCCATTAAAAGAAGGTAA	0.318000														50			38		0	0	0.00128727	0	0
TTBK1	84630	broad.mit.edu	37	6	43227376	43227376	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:43227376G>A	uc003ouq.1	+	11	1635	c.1356G>A	c.(1354-1356)cgG>cgA	p.R452R		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	452						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.R452Q(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGCGCTACCGGAGGGTGAACA	0.682000														6			5		0	0	0.000602214	0	0
TMIGD2	126259	broad.mit.edu	37	19	4298316	4298316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr19:4298316C>T	uc002lzx.2	-	1	119	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	TMIGD2_uc021umz.1_Intron|TMIGD2_uc021una.1_Intron|TMIGD2_uc010dtv.2_Missense_Mutation_p.V25M	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	25	Ig-like.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTGCTGCACGCTCAGGCTT	0.622000														12			12		0	0	0.00185496	0	0
SCLT1	132320	broad.mit.edu	37	4	129965184	129965185	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:129965184_129965185CC>TT	uc003igp.2	-	2	630_631	c.124_125GG>AA	c.(124-126)gga>AAa	p.G42K	SCLT1_uc003igq.2_Missense_Mutation_p.G42K|SCLT1_uc010iob.1_Missense_Mutation_p.G42K|SCLT1_uc003igr.2_Missense_Mutation_p.G42K|SCLT1_uc003igt.4_Missense_Mutation_p.G42K	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	42						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TGTGTCGTCTCCTTCTCCTTGG	0.287000														28			19		0	0	6.4e-05	0	0
MIIP	60672	broad.mit.edu	37	1	12089851	12089851	+	Silent	SNP	C	T	T	rs2295290	by1000genomes	TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:12089851C>T	uc001ato.2	+	6	1138	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA.	249	Interaction with IGFBP2.									autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CAACCGGCGCCTGTTCCCGGT	0.692000														14			8		0	0	0.000274275	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72054846	72054846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr14:72054846G>A	uc001xms.3	+	1	618	c.257G>A	c.(256-258)aGa>aAa	p.R86K	SIPA1L1_uc001xmt.3_Missense_Mutation_p.R86K|SIPA1L1_uc001xmu.3_Missense_Mutation_p.R86K|SIPA1L1_uc001xmv.3_Missense_Mutation_p.R86K	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	86					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGGCCCCCAAGAAAGGAAAAC	0.502000														31			37		0	0	0.00222228	0	0
ALX4	60529	broad.mit.edu	37	11	44286625	44286626	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr11:44286625_44286626GG>AA	uc001myb.3	-	3	1118_1119	c.1014_1015CC>TT	c.(1012-1017)ccccct>ccTTct	p.P339S		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	Homo sapiens ALX homeobox 4 (ALX4), mRNA.	339					hair follicle development			p.P338L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CCAGAGCCAGGGGGGTGGGCAT	0.688000														10			12		0	0	6.4e-05	0	0
PCSK5	5125	broad.mit.edu	37	9	78601118	78601118	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:78601118C>G	uc004akc.2	+	2	906	c.368C>G	c.(367-369)tCt>tGt	p.S123C	PCSK5_uc004ajy.2_Missense_Mutation_p.S123C|PCSK5_uc004ajz.3_Missense_Mutation_p.S123C|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	123	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CGTGCCCAGTCTACCTATTTC	0.468000														54			40		0	0	0.000781405	0	0
ALDOB	229	broad.mit.edu	37	9	104187160	104187160	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:104187160C>A	uc004bbk.2	-	7	1046	c.964G>T	c.(964-966)Gag>Tag	p.E322*		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	322					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TGGGTTGCCTCCTTGTTTGCA	0.537000														39			28		2.46105e-21	1.30357e-20	0.00209593	1	0
GZF1	64412	broad.mit.edu	37	20	23345626	23345626	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr20:23345626G>A	uc010gdb.3	+	2	780	c.606G>A	c.(604-606)aaG>aaA	p.K202K	GZF1_uc002wsy.3_Silent_p.K202K|GZF1_uc010zsq.2_Intron|GZF1_uc010zsr.2_Intron|GZF1_uc002wsz.3_Silent_p.K202K	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	202					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AGAAGTCCAAGGACAAACTAG	0.522000														32			26		0	0	0.000878237	0	0
TBC1D3	729873	broad.mit.edu	37	17	36288274	36288274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr17:36288274G>A	uc010wdk.1	+	4	544	c.543G>A	c.(541-543)atG>atA	p.M181I	TBC1D3_uc002hoo.2_Missense_Mutation_p.M120I|TBC1D3_uc002hop.2_Non-coding_Transcript|TBC1D3_uc010wdj.1_Missense_Mutation_p.M40I|TBC1D3_uc010cvf.1_Missense_Mutation_p.M120I|TBC1D3_uc002hoq.2_Missense_Mutation_p.M120I|DQ586040_uc002hpl.3_5'Flank|DQ587906_uc002hor.3_5'Flank|DQ585853_uc021tvy.1_5'Flank	NM_032258	NP_115634	Q8IZP1	TBC3A_HUMAN	Homo sapiens TBC1 domain family, member 3F (TBC1D3F), mRNA.	120	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGAGGAAATGAAGTTGAAAA	0.557000														511			47		0	0	0.000781405	0	0
GDPD4	220032	broad.mit.edu	37	11	76990378	76990378	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr11:76990378G>A	uc001oyf.3	-	2	371	c.120C>T	c.(118-120)atC>atT	p.I40I		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	40					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						AGGCAGTCAGGATCCTAGCTA	0.398000														21			11		0	0	0.000308642	0	0
EPHX1	2052	broad.mit.edu	37	1	226033024	226033024	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:226033024C>T	uc001hpk.3	+	8	1424	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	EPHX1_uc001hpl.3_Silent_p.F448F	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	448					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCCGCAAGTTCCTGTCGGTGC	0.607000														18			40		0	0	0.00222228	0	0
SH3RF2	153769	broad.mit.edu	37	5	145435568	145435568	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:145435568C>T	uc003lnt.3	+	7	1585	c.1347C>T	c.(1345-1347)tcC>tcT	p.S449S	SH3RF2_uc011dbl.1_Silent_p.S449S|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.3_5'UTR|SH3RF2_uc011dbn.1_5'UTR	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	449							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCAGACTCCCGGAGCCCTG	0.438000														155			110		0	0	0.000781405	0	0
COL5A3	50509	broad.mit.edu	37	19	10078752	10078752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr19:10078752G>A	uc002mmq.1	-	59	4404	c.4318C>T	c.(4318-4320)Ccc>Tcc	p.P1440S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1440	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGACCAGGGGGACCCTAGGAA	0.587000														38			13		0	0	0.00185496	0	0
KATNB1	10300	broad.mit.edu	37	16	57790379	57790379	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr16:57790379G>A	uc002eml.1	+	18	2204	c.1830G>A	c.(1828-1830)gaG>gaA	p.E610E		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA.	610	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				TCAGCAGGGAGGAGAGGTGAG	0.642000														43			22		0	0	0.00152264	0	0
WWOX	51741	broad.mit.edu	37	16	78458916	78458916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr16:78458916C>T	uc002ffk.3	+	6	1104	c.755C>T	c.(754-756)cCt>cTt	p.P252L	WWOX_uc002ffl.3_Intron|WWOX_uc010che.3_Intron|WWOX_uc010vnk.2_Missense_Mutation_p.P139L	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	Homo sapiens WW domain containing oxidoreductase (WWOX), transcript variant 1, mRNA.	252	Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).				Wnt receptor signaling pathway|apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CGCTCAGCTCCTGCCCGTGTC	0.502000														66			42		0	0	0.000781405	0	0
OR5H6	79295	broad.mit.edu	37	3	97983134	97983134	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr3:97983134C>T	uc003dsi.1	+	0	6	c.6C>T	c.(4-6)ttC>ttT	p.F2F		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGCAAATGTTCCTTTACCTTT	0.363000														35			22		0	0	0.00188189	0	0
SACS	26278	broad.mit.edu	37	13	23907292	23907292	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr13:23907292G>A	uc001uon.2	-	9	11312	c.10723C>T	c.(10723-10725)Cat>Tat	p.H3575Y	SACS_uc001uoo.2_Missense_Mutation_p.H3428Y|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3575					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATGTAACATGATTTTTGGGT	0.308000														24			14		0	0	0.00244969	0	0
PKP4	8502	broad.mit.edu	37	2	159497153	159497153	+	Missense_Mutation	SNP	G	A	A	rs144253065		TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:159497153G>A	uc002tzv.3	+	9	1837	c.1577G>A	c.(1576-1578)cGt>cAt	p.R526H	PKP4_uc002tzt.1_Missense_Mutation_p.R378H|PKP4_uc002tzu.3_Missense_Mutation_p.R526H|PKP4_uc002tzw.3_Missense_Mutation_p.R526H|PKP4_uc002tzx.3_Missense_Mutation_p.R183H|PKP4_uc002tzy.1_Missense_Mutation_p.R184H|PKP4_uc002tzz.1_Missense_Mutation_p.R524H|PKP4_uc002uaa.3_Missense_Mutation_p.R378H	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	526					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTTGCCTGGCGTGATCCTGAG	0.468000										HNSCC(62;0.18)				61			35		0	0	0.00128727	0	0
FRMPD2	143162	broad.mit.edu	37	10	49431253	49431253	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:49431253C>T	uc001jgi.3	-	10	1560	c.1229G>A	c.(1228-1230)tGg>tAg	p.W410*	FRMPD2_uc001jgh.3_Nonsense_Mutation_p.W379*|FRMPD2_uc001jgj.3_Nonsense_Mutation_p.W379*	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	410	FERM.				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)		CTGCTCTCTCCAGCCTTCAGG	0.468000														36			21		0	0	0.00278032	0	0
GRID2	2895	broad.mit.edu	37	4	94436462	94436462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:94436462C>T	uc011cdt.2	+	12	2351	c.2093C>T	c.(2092-2094)cCt>cTt	p.P698L	GRID2_uc011cdu.2_Missense_Mutation_p.P603L	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	698					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGACTGAATCCTTTTGAGAGG	0.483000														27			11		0	0	0.000978159	0	0
BAG6	7917	broad.mit.edu	37	6	31610725	31610726	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:31610725_31610726CC>AA	uc003nvg.4	-	13	2147_2148	c.1833_1834GG>TT	c.(1831-1836)ctgggg>ctTTgg	p.G612W	BAG6_uc003nvf.4_Missense_Mutation_p.G606W|BAG6_uc003nvi.4_Missense_Mutation_p.G606W|BAG6_uc003nvh.4_Missense_Mutation_p.G606W|BAG6_uc011dnw.2_Missense_Mutation_p.G606W|BAG6_uc011dnx.2_Intron	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	612	4 X 29 AA approximate repeats.|Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						AGCAGGTTCCCCAGAAGCTGAG	0.649000														432			12		0	0	6.4e-05	0	0
ELAVL2	1993	broad.mit.edu	37	9	23705064	23705064	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:23705064G>A	uc003zpu.3	-	3	614	c.339C>T	c.(337-339)tcC>tcT	p.S113S	ELAVL2_uc003zps.3_Silent_p.S113S|ELAVL2_uc003zpt.3_Silent_p.S113S|ELAVL2_uc003zpv.3_Silent_p.S113S|ELAVL2_uc003zpw.3_Silent_p.S113S	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	113	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GGCGAGCATAGGAAACCTGGA	0.408000														15			26		0	0	0.00047179	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433515	69433515	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:69433515G>A	uc021xov.1	-	0	731	c.688C>T	c.(688-690)Ctg>Ttg	p.L230L		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	230					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CACTTCTTCAGATCATATGCT	0.333000														95			67		0	0	0.000781405	0	0
CD163L1	283316	broad.mit.edu	37	12	7528574	7528574	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:7528574G>A	uc010sge.2	-	9	2464	c.2438C>T	c.(2437-2439)cCc>cTc	p.P813L	CD163L1_uc001qsy.3_Missense_Mutation_p.P803L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	803	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCAGAGCAGGGCATATCAGC	0.453000														36			28		0	0	0.00058488	0	0
NFYA	4800	broad.mit.edu	37	6	41051789	41051789	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:41051789A>T	uc003opo.3	+	3	345	c.167A>T	c.(166-168)cAa>cTa	p.Q56L	NFYA_uc003opp.3_Missense_Mutation_p.Q27L|NFYA_uc003opq.3_Missense_Mutation_p.Q27L	NM_002505	NP_002496	P23511	NFYA_HUMAN	Homo sapiens nuclear transcription factor Y, alpha (NFYA), transcript variant 1, mRNA.	56	Gln-rich.				transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTCTAGGTCCAAGGGCAGCCA	0.443000														12			19		0	0	0.00152264	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112694226	112694226	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:112694226C>T	uc004bei.2	+	5	606	c.414C>T	c.(412-414)tcC>tcT	p.S138S	PALM2-AKAP2_uc004beg.3_Intron|PALM2-AKAP2_uc004beh.4_Silent_p.S138S|PALM2-AKAP2_uc004bej.4_Silent_p.S138S|PALM2-AKAP2_uc004bek.4_Silent_p.S138S|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding	p.S138F(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ATTACATTTCCTCCCAGCTTC	0.542000														74			55		0	0	0.000781405	0	0
EPHA3	2042	broad.mit.edu	37	3	89480458	89480458	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr3:89480458C>T	uc003dqy.3	+	12	2520	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F	EPHA3_uc021xbf.1_Silent_p.F765F	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	765	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTTCTGATTTCGGACTTTCGC	0.438000										TSP Lung(6;0.00050)				26			12		0	0	0.00185496	0	0
ACTL6B	51412	broad.mit.edu	37	7	100243896	100243896	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr7:100243896G>A	uc003uvy.3	-	12	1283	c.1176C>T	c.(1174-1176)atC>atT	p.I392I	ACTL6B_uc003uvz.3_Non-coding_Transcript	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	392					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGGAACCCCCGATCCAGGGGC	0.602000														19			5		0	0	0.000602214	0	0
NID1	4811	broad.mit.edu	37	1	236148724	236148724	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:236148724T>C	uc001hxo.3	-	14	3112	c.3010A>G	c.(3010-3012)Aga>Gga	p.R1004G	NID1_uc009xgd.3_Missense_Mutation_p.R871G|NID1_uc009xgc.3_Missense_Mutation_p.R90G	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	1004					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGACTAGCTCTCCCAATGGAA	0.458000														76			24		0	0	0.00278032	0	0
KRT15	3866	broad.mit.edu	37	17	39673078	39673078	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr17:39673078C>T	uc002hwy.3	-	2	911	c.720G>A	c.(718-720)ctG>ctA	p.L240L	KRT15_uc002hwz.3_Silent_p.L142L|KRT15_uc002hxa.3_Silent_p.L75L|KRT15_uc002hxb.1_Silent_p.L75L	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	240	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GGTTCTTCTTCAGGTAGGCTA	0.577000														39			19		0	0	0.00188189	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432366	140432366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:140432366G>A	uc003lik.1	+	0	1388	c.1311G>A	c.(1309-1311)atG>atA	p.M437I		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	437	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGAGACTATGATAGAGGTGC	0.448000														56			47		0	0	0.000781405	0	0
CRISP3	10321	broad.mit.edu	37	6	49696475	49696475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:49696475C>T	uc021zai.1	-	7	863	c.775G>A	c.(775-777)Gcc>Acc	p.A259T	CRISP3_uc003ozs.3_Missense_Mutation_p.A249T	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	236					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTGCAGGAGGCCTTGCAACTG	0.403000														58			30		0	0	0.0024448	0	0
RYR3	6263	broad.mit.edu	37	15	34021145	34021145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:34021145G>A	uc001zhi.3	+	46	7191	c.7121G>A	c.(7120-7122)gGc>gAc	p.G2374D	RYR3_uc010bar.3_Missense_Mutation_p.G2374D	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2374	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)		CGCGTTTATGGCATTAAGGAT	0.468000														25			11		0	0	0.000978159	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84690205	84690205	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:84690205C>T	uc002bjz.4	+	25	4541	c.4317C>T	c.(4315-4317)acC>acT	p.T1439T	ADAMTSL3_uc010bmt.1_Silent_p.T1439T	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1439	TSP type-1 8.					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)			GTTCTGCCACCTGTGGTCATT	0.527000														94			48		0	0	0.000781405	0	0
GAB3	139716	broad.mit.edu	37	X	153908421	153908421	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chrX:153908421G>A	uc004fmk.1	-	8	1683	c.1635C>T	c.(1633-1635)gcC>gcT	p.A545A	GAB3_uc004fmj.1_Silent_p.A544A|GAB3_uc010nve.1_Intron|GAB3_uc004fml.1_Silent_p.A164A	NM_001081573	NP_001075042	Q8WWW8	GAB3_HUMAN	Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA.	544										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCTGCATGGGGGCTGGTGATG	0.478000														33			103		0	0	0.000781405	0	0
TRIML1	339976	broad.mit.edu	37	4	189068016	189068016	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:189068016C>T	uc003izm.1	+	5	1012	c.897C>T	c.(895-897)ctC>ctT	p.L299L	TRIML1_uc003izn.1_Silent_p.L23L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	299	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.L299L(4)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ATGCCTATCTCGTGTTGTCGG	0.512000														102			60		0	0	0.000781405	0	0
IL22RA1	58985	broad.mit.edu	37	1	24463794	24463794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:24463794C>T	uc001biq.2	-	2	385	c.182G>A	c.(181-183)gGa>gAa	p.G61E	IL22RA1_uc010oeg.1_5'UTR|IL22RA1_uc009vrb.2_5'UTR|IL22RA1_uc010oeh.2_Missense_Mutation_p.G61E	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	61	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GTCCCTCTCTCCGTACCTGCA	0.562000														32			23		0	0	0.00229938	0	0
OAZ2	4947	broad.mit.edu	37	15	64982719	64982719	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:64982719G>A	uc002ano.2	-	3	422	c.207C>T	c.(205-207)ctC>ctT	p.L69L		NM_002537	NP_002528	O95190	OAZ2_HUMAN	Homo sapiens ornithine decarboxylase antizyme 2 (OAZ2), mRNA.	69					polyamine metabolic process|regulation of cellular amino acid metabolic process	cytosol|nucleus	ornithine decarboxylase inhibitor activity|protein binding									L-Ornithine(DB00129)	CATTCACAGGGAGGTCCTGGG	0.542000														39			21		0	0	0.00121646	0	0
SPEG	10290	broad.mit.edu	37	2	220355284	220355284	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:220355284G>A	uc010fwg.3	+	36	9075	c.9075G>A	c.(9073-9075)ctG>ctA	p.L3025L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	3025	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCATGTCCCTGCACGAGGCCT	0.627000														50			5		0	0	0.000602214	0	0
MYO5A	4644	broad.mit.edu	37	15	52656776	52656776	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:52656776A>G	uc002aby.2	-	23	3528	c.3284T>C	c.(3283-3285)cTc>cCc	p.L1095P	MYO5A_uc002abx.3_Missense_Mutation_p.L1095P	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	1095					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTCTTCCTTGAGGTCATCATA	0.343000														59			34		0	0	0.000692331	0	0
ECM2	1842	broad.mit.edu	37	9	95256409	95256409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:95256409C>T	uc004asf.4	-	9	2075	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron	NM_001197296	NP_001184225	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 3, mRNA.	0					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GTCACTGTCTCTAGAACAGCA	0.423000														37			19		0	0	0.00152264	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762210	24762210	+	Silent	SNP	C	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:24762210C>A	uc001iru.4	+	5	1303	c.900C>A	c.(898-900)ccC>ccA	p.P300P	KIAA1217_uc001irs.3_Silent_p.P220P|KIAA1217_uc001irt.4_Silent_p.P300P|KIAA1217_uc010qcy.2_Silent_p.P300P|KIAA1217_uc010qcz.2_Silent_p.P300P|KIAA1217_uc001irv.1_Silent_p.P150P|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.P18P|KIAA1217_uc001irz.3_Silent_p.P18P|KIAA1217_uc001irx.3_Silent_p.P18P|KIAA1217_uc001iry.3_Silent_p.P18P	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	300	Pro-rich.				embryonic skeletal system development	cytoplasm		p.P300P(2)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCCCTCGCCCCGGATCTACTG	0.527000														47			39		5.78141e-17	3.03459e-16	0.000680045	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110455982	110455982	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr8:110455982A>G	uc003yne.3	+	36	4746	c.4642A>G	c.(4642-4644)Acc>Gcc	p.T1548A		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1548					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTGAACAATACCAGGGTTAA	0.433000										HNSCC(38;0.096)				40			8		0	0	0.000157383	0	0
CXCL14	9547	broad.mit.edu	37	5	134907551	134907551	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:134907551C>T	uc003lay.3	-	3	793	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K		NM_004887	NP_004878	O95715	CXL14_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 14 (CXCL14), mRNA.	110					cell-cell signaling|chemotaxis|immune response|signal transduction	Golgi apparatus|extracellular space	chemokine activity	p.E110K(2)		large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCCTATTCTTCGTAGACCCTG	0.428000														15			7		0	0	0.000442599	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439208	14439208	+	RNA	SNP	A	G	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr21:14439208A>G	uc002yja.4	+	9		c.2726A>G								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAGAAGAAATGCCAATATA	0.299000														34			5		0	0	0.000602214	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64466483	64466483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:64466483C>T	uc003jtp.3	-	23	4019	c.3205G>A	c.(3205-3207)Gaa>Aaa	p.E1069K	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	1069	TSP type-1 5.				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)		CATTTGCTTTCACACTGCTGC	0.498000														27			13		0	0	0.00185496	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212086	26212086	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chrX:26212086C>T	uc022buc.1	+	0	123	c.123C>T	c.(121-123)tcC>tcT	p.S41S	MAGEB6_uc004dbr.3_Silent_p.S41S	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	41	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCCACTCTTCCTCATCCTCTT	0.572000														2			22		0	0	0.00047179	0	0
ADRA2C	152	broad.mit.edu	37	4	3769530	3769530	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:3769530C>T	uc003ghm.3	+	0	1235	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F		NM_000683	NP_000674	P18825	ADA2C_HUMAN	Homo sapiens adrenergic, alpha-2C-, receptor (ADRA2C), mRNA.	399					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TCCCCTTCTTCTTCAGCTACA	0.632000														14			6		0	0	0.00198382	0	0
OR10H4	126541	broad.mit.edu	37	19	16060184	16060184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr19:16060184C>T	uc010xov.2	+	0	367	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GGGCTATGATCGCTATGTGGC	0.537000														121			63		0	0	0.000781405	0	0
PNPLA7	375775	broad.mit.edu	37	9	140357203	140357203	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:140357203A>T	uc010ncj.1	-	29	3763	c.3426T>A	c.(3424-3426)taT>taA	p.Y1142*	PNPLA7_uc004cnd.1_Nonsense_Mutation_p.Y383*|PNPLA7_uc004cne.1_Nonsense_Mutation_p.Y383*|PNPLA7_uc011mfa.1_Nonsense_Mutation_p.Y525*|PNPLA7_uc004cnf.2_Nonsense_Mutation_p.Y1117*	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1117					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCGCATCCCCATAGTTGGTGA	0.637000														16			17		0	0	0.000958276	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525537	150525537	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:150525537G>A	uc009wlw.3	+	3	400	c.242G>A	c.(241-243)aGt>aAt	p.S81N	ADAMTSL4_uc001euw.3_Missense_Mutation_p.S81N|ADAMTSL4_uc001eux.3_Missense_Mutation_p.S81N|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.S81N	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	81	TSP type-1 1.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|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;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCCACCCGAGTCTGCCCCTC	0.687000														24			10		0	0	0.000442599	0	0
IL16	3603	broad.mit.edu	37	15	81575018	81575018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:81575018C>T	uc021ssh.1	+	7	1221	c.1120C>T	c.(1120-1122)Ccc>Tcc	p.P374S	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Missense_Mutation_p.P374S|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.P416S|IL16_uc021ssg.1_Missense_Mutation_p.P374S|IL16_uc002bgg.3_Missense_Mutation_p.P374S|IL16_uc002bgi.1_5'UTR	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	374	Interaction with GRIN2A.|PDZ 2.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTGCAGCGTTCCCTACTTCCA	0.632000														99			100		0	0	0.000781405	0	0
METTL21D	79609	broad.mit.edu	37	14	50576421	50576421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr14:50576421G>A	uc001wxo.1	-	5	713	c.686C>T	c.(685-687)tCg>tTg	p.S229L	METTL21D_uc001wxn.1_Non-coding_Transcript|METTL21D_uc001wxp.1_Missense_Mutation_p.S194L|METTL21D_uc001wxq.1_Non-coding_Transcript	NM_024558	NP_078834	Q9H867	MT21D_HUMAN	Homo sapiens methyltransferase like 21D (METTL21D), transcript variant 1, mRNA.	229							methyltransferase activity			kidney(1)|lung(1)|urinary_tract(1)	3						AAGGCTTCACGATGGAAATTT	0.343000														5			4		0	0	0.000602214	0	0
CRB1	23418	broad.mit.edu	37	1	197390437	197390437	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:197390437C>T	uc001gtz.3	+	5	1688	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	CRB1_uc010poz.2_Silent_p.F424F|CRB1_uc009wza.3_Silent_p.F381F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.F493F|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_5'UTR|CRB1_uc001gub.1_Silent_p.F142F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	493	Laminin G-like 1.				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						GCGATGGCTTCCTGTGGGTCA	0.507000														68			18		0	0	0.000566183	0	0
SUPT5H	6829	broad.mit.edu	37	19	39963709	39963709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr19:39963709C>T	uc002olo.4	+	22	2392	c.2213C>T	c.(2212-2214)tCc>tTc	p.S738F	SUPT5H_uc002olp.4_Missense_Mutation_p.S738F|SUPT5H_uc002olq.4_Missense_Mutation_p.S734F|SUPT5H_uc002oln.4_Missense_Mutation_p.S738F|SUPT5H_uc002olr.4_Missense_Mutation_p.S738F|SUPT5H_uc002ols.1_Missense_Mutation_p.S361F|SUPT5H_uc010egp.1_Missense_Mutation_p.S104F	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	738					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAGCTGCACTCCACCTGCCAG	0.667000														29			14		0	0	0.000308642	0	0
STEAP3	55240	broad.mit.edu	37	2	120003519	120003519	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:120003519C>T	uc002tlp.3	+	2	604	c.447C>T	c.(445-447)atC>atT	p.I149I	STEAP3_uc002tlq.3_Silent_p.I159I|STEAP3_uc002tlr.3_Silent_p.I149I|STEAP3_uc010fle.3_Silent_p.I149I	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	149					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TCAATGTCATCTCTGCCTGGA	0.507000														60			32		0	0	0.00058488	0	0
FAM178A	55719	broad.mit.edu	37	10	102705132	102705132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:102705132C>T	uc001krs.3	+	12	3345	c.2803C>T	c.(2803-2805)Cgt>Tgt	p.R935C	FAM178A_uc001krt.4_Missense_Mutation_p.R935C	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	935																	TTACCAGGATCGTGAAATAAT	0.313000														39			12		0	0	0.00136819	0	0
COL7A1	1294	broad.mit.edu	37	3	48630291	48630291	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr3:48630291C>T	uc003ctz.2	-	5	764	c.763G>A	c.(763-765)Gcc>Acc	p.A255T		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	255	Fibronectin type-III 1.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGCCACTGGCCGCTGTCCAC	0.617000														26			11		0	0	0.000673444	0	0
KATNB1	10300	broad.mit.edu	37	16	57787310	57787310	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr16:57787310G>A	uc002eml.1	+	11	1430	c.1056G>A	c.(1054-1056)caG>caA	p.Q352Q		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA.	352	Interaction with PAFAH1B1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GGGTGAAGCAGAACTCAGAGA	0.662000														13			6		0	0	0.00116845	0	0
LST1	7940	broad.mit.edu	37	6	31556496	31556496	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:31556496C>T	uc010jsw.3	+	2	313	c.309C>T	c.(307-309)gtC>gtT	p.V103V	LST1_uc021yus.1_3'UTR|LST1_uc003nut.3_3'UTR|LST1_uc003nuo.3_Non-coding_Transcript|LST1_uc003nup.3_Non-coding_Transcript|LST1_uc010jss.2_3'UTR|LST1_uc003nuq.3_Non-coding_Transcript|LST1_uc003nuu.3_Non-coding_Transcript|LST1_uc021yut.1_Non-coding_Transcript|LST1_uc010jst.2_Non-coding_Transcript|LST1_uc010jsu.2_3'UTR|LST1_uc010jsx.3_3'UTR|LST1_uc003nus.3_3'UTR	NM_205838	NP_995310	O00453	LST1_HUMAN	Homo sapiens leukocyte specific transcript 1 (LST1), transcript variant 3, mRNA.	0					cell morphogenesis|dendrite development|immune response|negative regulation of lymphocyte proliferation|regulation of cell shape	Golgi membrane|integral to membrane	protein binding			large_intestine(1)	1						TGGACAGGGTCCCCCTGTGGT	0.547000														25			7		0	0	0.000157383	0	0
ASPHD2	57168	broad.mit.edu	37	22	26829983	26829983	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr22:26829983C>T	uc003acg.2	+	1	799	c.402C>T	c.(400-402)gcC>gcT	p.A134A		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	134					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						AGGAGTACGCCAAGCGCTACT	0.637000														23			10		0	0	0.000673444	0	0
NUDT17	200035	broad.mit.edu	37	1	145587474	145587474	+	Silent	SNP	T	C	C			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:145587474T>C	uc001eoe.3	-	5	614	c.606A>G	c.(604-606)caA>caG	p.Q202Q		NM_001012758	NP_001012776	P0C025	NUD17_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 17 (NUDT17), mRNA.	202	Nudix hydrolase.						hydrolase activity|metal ion binding			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGGGTTTGGTTGGATCCGGG	0.582000														85			30		0	0	0.000814825	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817061	69817061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:69817061C>T	uc003hef.2	-	0	449	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	140						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TAGTTGGTTTCCTGTAGCTTC	0.368000														25			11		0	0	0.000978159	0	0
BAZ2B	29994	broad.mit.edu	37	2	160287589	160287589	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:160287589T>C	uc002uao.3	-	9	2384	c.1979A>G	c.(1978-1980)gAt>gGt	p.D660G	BAZ2B_uc002uap.3_Missense_Mutation_p.D658G|BAZ2B_uc002uaq.1_Intron|BAZ2B_uc002uar.1_Missense_Mutation_p.D233G	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	660	Asp/Glu-rich (acidic).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGTATCACTATCTGATTCATC	0.373000														43			24		0	0	0.00047179	0	0
PTCD2	79810	broad.mit.edu	37	5	71622508	71622508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:71622508C>T	uc003kcb.3	+	2	300	c.290C>T	c.(289-291)aCc>aTc	p.T97I	PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_5'UTR|PTCD2_uc011csh.2_Intron|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	97										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GAGTTGATAACCTTACTACAT	0.423000														60			32		0	0	0.00283554	0	0
FSIP1	161835	broad.mit.edu	37	15	39910373	39910373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:39910373G>A	uc001zki.3	-	10	1480	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	421										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TTTAATGATGGATTTTTGTTT	0.363000														36			17		0	0	0.000422831	0	0
KIFC3	3801	broad.mit.edu	37	16	57793672	57793672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr16:57793672G>A	uc002emq.3	-	17	2641	c.2444C>T	c.(2443-2445)cCt>cTt	p.P815L	KIFC3_uc010vhw.2_Missense_Mutation_p.P713L|KIFC3_uc002emn.3_Non-coding_Transcript|KIFC3_uc002emm.3_Missense_Mutation_p.P676L|KIFC3_uc010vhx.2_Missense_Mutation_p.P673L|KIFC3_uc010cdf.3_Missense_Mutation_p.P676L|KIFC3_uc002emo.4_Missense_Mutation_p.P676L|KIFC3_uc010vhy.2_Missense_Mutation_p.P757L|KIFC3_uc002emp.3_Missense_Mutation_p.P815L|KIFC3_uc010vhz.2_Missense_Mutation_p.P837L	NM_001130100	NP_001123571	Q9BVG8	KIFC3_HUMAN	Homo sapiens kinesin family member C3 (KIFC3), transcript variant 2, mRNA.	815					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GATGGATCCAGGGCGGCTACT	0.672000														21			11		0	0	0.000978159	0	0
JMJD6	23210	broad.mit.edu	37	17	74719857	74719857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr17:74719857G>A	uc002jso.3	-	2	1126	c.802C>T	c.(802-804)Cca>Tca	p.P268S	JMJD6_uc002jsn.1_Missense_Mutation_p.P268S	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	Homo sapiens jumonji domain containing 6 (JMJD6), transcript variant 2, mRNA.	268	JmjC.				RNA splicing|mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TCTATACCTGGTACAAAGACA	0.493000														84			37		0	0	0.00148497	0	0
THSD7B	80731	broad.mit.edu	37	2	137814542	137814542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:137814542C>T	uc002tva.1	+	1	599	c.599C>T	c.(598-600)tCc>tTc	p.S200F	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.S90F	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											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)		GCTCCCATTTCCTGTCCTCTT	0.458000														131			60		0	0	0.000781405	0	0
AGPAT2	10555	broad.mit.edu	37	9	139571920	139571920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:139571920G>A	uc004cii.1	-	1	373	c.271C>T	c.(271-273)Ccc>Tcc	p.P91S	AGPAT2_uc004cij.1_Missense_Mutation_p.P91S	NM_006412	NP_006403	O15120	PLCB_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) (AGPAT2), transcript variant 1, mRNA.	91					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		ATGACACAGGGACGGGCCTCC	0.652000														221			125		0	0	0.000781405	0	0
MCMBP	79892	broad.mit.edu	37	10	121618605	121618605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:121618605G>A	uc001ler.2	-	2	531	c.233C>T	c.(232-234)cCt>cTt	p.P78L	MCMBP_uc001les.1_5'UTR|MCMBP_uc021pzr.1_5'Flank	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN	Homo sapiens minichromosome maintenance complex binding protein (MCMBP), transcript variant 1, mRNA.	78					DNA-dependent DNA replication|S phase of mitotic cell cycle|cell division|mitosis|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GTAAAACTCAGGGTCAAACAT	0.333000														25			20		0	0	0.00121646	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229694	140229694	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:140229694C>T	uc003lhu.2	+	0	2338	c.1614C>T	c.(1612-1614)cgC>cgT	p.R538R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.R538R	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	552	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCGGGCG	0.672000														90			39		0	0	0.00222228	0	0
C2orf16	84226	broad.mit.edu	37	2	27800346	27800347	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:27800346_27800347GG>AA	uc002rkz.4	+	0	958_959	c.907_908GG>AA	c.(907-909)gga>AAa	p.G303K		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	303										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCAAGCCACTGGATTTGCAGAG	0.450000														48			29		0	0	6.4e-05	0	0
NR2C1	7181	broad.mit.edu	37	12	95422272	95422272	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:95422272T>G	uc001tdm.4	-	11	1678	c.1422A>C	c.(1420-1422)ttA>ttC	p.L474F	NR2C1_uc010suu.1_Missense_Mutation_p.I423L	NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	474					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						GCTCCATCAATAATTTTCTTC	0.313000														36			17		0	0	0.000422831	0	0
SH3BP4	23677	broad.mit.edu	37	2	235949971	235949971	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:235949971C>T	uc002vvp.3	+	3	951	c.558C>T	c.(556-558)ccC>ccT	p.P186P	SH3BP4_uc010fym.3_Silent_p.P186P|SH3BP4_uc002vvq.3_Silent_p.P186P	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	186					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AGCTGAATCCCAAAAGTACTG	0.502000														53			24		0	0	0.00278032	0	0
PCDH17	27253	broad.mit.edu	37	13	58206800	58206800	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr13:58206800G>A	uc001vhq.1	+	0	1012	c.120G>A	c.(118-120)agG>agA	p.R40R	PCDH17_uc010aec.1_Silent_p.R40R	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	40	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACATCGGCAGGGATGCTCGAC	0.667000														18			8		0	0	0.000274275	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133948635	133948635	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:133948635G>A	uc001lkx.4	+	3	940	c.940G>A	c.(940-942)Gca>Aca	p.A314T		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGACCGCAATGCATTGCTGTC	0.567000														28			9		0	0	0.000442599	0	0
LPAR1	1902	broad.mit.edu	37	9	113637908	113637908	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:113637908G>A	uc011lwo.2	-	2	893	c.891C>T	c.(889-891)ttC>ttT	p.F297F	LPAR1_uc004bfa.3_Silent_p.F296F|LPAR1_uc011lwm.2_Silent_p.F297F|LPAR1_uc004bfc.3_Silent_p.F296F|LPAR1_uc011lwn.2_Silent_p.F278F|LPAR1_uc004bfb.3_Silent_p.F296F|LPAR1_uc010mub.3_Silent_p.F296F	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	296					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CAAGGAGAAGGAAGAATTTCT	0.498000														48			32		0	0	0.00178596	0	0
FAM81B	153643	broad.mit.edu	37	5	94764394	94764394	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:94764394C>T	uc003kla.1	+	5	790	c.744C>T	c.(742-744)ttC>ttT	p.F248F	FAM81B_uc010jbe.1_Silent_p.F44F	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	248								p.F248F(2)|p.E247Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TTCAAGAATTCGTGCCCGCCC	0.408000														51			25		0	0	0.000878237	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656197	167656197	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:167656197G>A	uc011cjq.1	-	9	1270	c.1213C>T	c.(1213-1215)Cat>Tat	p.H405Y	SPOCK3_uc021xuf.1_Missense_Mutation_p.H396Y|SPOCK3_uc011cjr.1_Missense_Mutation_p.H276Y|SPOCK3_uc003iri.1_Missense_Mutation_p.H396Y|SPOCK3_uc011cjs.1_Missense_Mutation_p.H345Y|SPOCK3_uc003irj.1_Missense_Mutation_p.H393Y|SPOCK3_uc011cjt.1_Missense_Mutation_p.H304Y|SPOCK3_uc011cjp.2_Missense_Mutation_p.H353Y|SPOCK3_uc011cju.1_Missense_Mutation_p.H300Y|SPOCK3_uc011cjv.1_Missense_Mutation_p.H298Y	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	396	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.D404N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		gtccattcatgaaaatcgcca	0.348000														41			21		0	0	0.000586117	0	0
CDH26	60437	broad.mit.edu	37	20	58545215	58545215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr20:58545215G>A	uc002ybe.3	+	2	516	c.205G>A	c.(205-207)Gga>Aga	p.G69R	CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	69	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GGAAGACCCGGGACCCTTTCC	0.512000														45			26		0	0	0.000586117	0	0
TMEM196	256130	broad.mit.edu	37	7	19765299	19765299	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr7:19765299G>A	uc011jyg.2	-	2	382	c.297C>T	c.(295-297)tcC>tcT	p.S99S	TMEM196_uc003sur.3_Non-coding_Transcript	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	Homo sapiens transmembrane protein 196 (TMEM196), mRNA.	105						integral to membrane		p.L98L(2)		breast(1)|large_intestine(1)|lung(4)	6						GTGGGTATAGGGAGGAAGTTT	0.512000														98			18		0	0	0.00121646	0	0
CES1	1066	broad.mit.edu	37	16	55862760	55862760	+	Missense_Mutation	SNP	G	A	A	rs75463934		TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr16:55862760G>A	uc002eim.3	-	1	284	c.176C>T	c.(175-177)cCt>cTt	p.P59L	CES1_uc002eil.3_Missense_Mutation_p.P60L|CES1_uc002ein.3_Missense_Mutation_p.P59L	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	59					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GGGTCCAAGAGGCGGCTTGGC	0.552000														35			18		0	0	0.00074312	0	0
C12orf51	283450	broad.mit.edu	37	12	112622260	112622260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:112622260C>T	uc021reb.1	-	60	10504	c.10108G>A	c.(10108-10110)Gtc>Atc	p.V3370I		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						AGGTCGCTGACGGTTTGGGAG	0.687000														16			6		0	0	0.00198382	0	0
PLXNB1	5364	broad.mit.edu	37	3	48461264	48461264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr3:48461264G>A	uc003csw.2	-	10	2701	c.2431C>T	c.(2431-2433)Cat>Tat	p.H811Y	PLXNB1_uc003csu.2_Intron|PLXNB1_uc003csx.2_Missense_Mutation_p.H811Y|PLXNB1_uc010hjx.1_Intron	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	811	Pro-rich.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTGTGGGATGAAGAGCCTCG	0.672000														5			7		0	0	0.00198382	0	0
ZBP1	81030	broad.mit.edu	37	20	56179658	56179658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr20:56179658C>T	uc002xyo.3	-	7	1542	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	ZBP1_uc010gjm.3_Missense_Mutation_p.E420K|ZBP1_uc002xyp.3_Missense_Mutation_p.E346K	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	421						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CAGCTCCCCTCGTGTGAGGCT	0.592000														55			28		0	0	0.00209593	0	0
FNDC4	64838	broad.mit.edu	37	2	27717446	27717446	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:27717446A>G	uc002rkx.3	-	1	507	c.101T>C	c.(100-102)cTg>cCg	p.L34P	GCKR_uc002rky.3_5'Flank|GCKR_uc010ezd.3_5'Flank|GCKR_uc010ylu.2_5'Flank	NM_022823	NP_073734	Q9H6D8	FNDC4_HUMAN	Homo sapiens fibronectin type III domain containing 4 (FNDC4), mRNA.	34						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					ACAGCTGACCAGCAGGAGGAC	0.602000														8			4		0	0	0.00024832	0	0
PIWIL1	9271	broad.mit.edu	37	12	130856078	130856078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:130856078C>T	uc001uik.3	+	20	2792	c.2521C>T	c.(2521-2523)Ctt>Ttt	p.L841F		NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	841	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCTGGCTTTTCTTGTTGGCCA	0.458000														57			34		0	0	0.00128727	0	0
SCN11A	11280	broad.mit.edu	37	3	38889195	38889195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr3:38889195G>A	uc021wvy.1	-	25	4565	c.4366C>T	c.(4366-4368)Cct>Tct	p.P1456S		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1456					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGAGGGAAAGGAATGTGCTCC	0.502000														14			8		0	0	0.000274275	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714454	138714455	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:138714454_138714455GG>AA	uc004cgr.4	-	10	2052_2053	c.2052_2053CC>TT	c.(2050-2055)gccctt>gcTTtt	p.L685F	CAMSAP1_uc004cgq.4_Missense_Mutation_p.L575F|CAMSAP1_uc010nbg.3_Missense_Mutation_p.L407F	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	685						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AATCCGCCAAGGGCCAGAGGCC	0.589000														20			6		0	0	6.4e-05	0	0
GBP5	115362	broad.mit.edu	37	1	89732656	89732656	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:89732656G>A	uc001dnc.3	-	5	1146	c.609C>T	c.(607-609)tcC>tcT	p.S203S	GBP5_uc001dnd.3_Silent_p.S203S|GBP5_uc001dne.1_Silent_p.S203S	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	203						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TTGGCCTTAGGGAATTCTCCA	0.388000														93			43		0	0	0.000781405	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15880736	15880736	+	RNA	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr19:15880736G>A	uc002nbo.3	-	6		c.1157C>T								Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		CAAACATGAAGGTGTCAGCCT	0.507000														24			10		0	0	0.000442599	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503831	140503831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:140503831G>A	uc003lip.1	+	0	2251	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	751					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACCAGTACGAGGTGTGTCT	0.597000														67			42		0	0	0.0025221	0	0
IRF2BP2	359948	broad.mit.edu	37	1	234744219	234744219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:234744219G>A	uc001hwg.3	-	0	1053	c.1022C>T	c.(1021-1023)gCc>gTc	p.A341V	IRF2BP2_uc009xfw.3_5'Flank|IRF2BP2_uc001hwf.3_Intron	NM_182972	NP_892017	Q7Z5L9	I2BP2_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 2 (IRF2BP2), transcript variant 1, mRNA.	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.E340D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GGCCCCGTTGGCCTCGAAACC	0.627000														16			6		0	0	0.00198382	0	0
OR13C4	138804	broad.mit.edu	37	9	107289113	107289113	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:107289113G>A	uc011lvn.2	-	0	378	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GAGGGTTACAGATGGCCACAT	0.453000														48			31		0	0	0.001512	0	0
CBL	867	broad.mit.edu	37	11	119155775	119155775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr11:119155775C>T	uc001pwe.3	+	9	1666	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	510	Pro-rich.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		AGTATGTGTTCCCTCAAGTGC	0.507000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies		OREG0021401	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			38		0	0	0.00195071	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627520	43627520	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr9:43627520C>T	uc011lrb.2	-	3	1196	c.1167G>A	c.(1165-1167)tcG>tcA	p.S389S		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	389						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						GCAGCTGTTTCGAGTTCTCTC	0.483000														150			80		0	0	0.000781405	0	0
PRKAA2	5563	broad.mit.edu	37	1	57140109	57140109	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:57140109G>A	uc001cyk.4	+	1	221	c.150G>A	c.(148-150)caG>caA	p.Q50Q		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	50	Protein kinase.				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						TAAATAGACAGAAGATTCGCA	0.289000														52			32		0	0	0.000692331	0	0
BTBD9	114781	broad.mit.edu	37	6	38565687	38565687	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:38565687G>A	uc003ooa.4	-	3	761	c.185_splice	c.e3+1	p.R62_splice	BTBD9_uc010jwv.3_5'Flank|BTBD9_uc003ony.4_5'Flank|BTBD9_uc010jww.3_5'Flank|BTBD9_uc010jwx.3_Splice_Site_p.R62_splice	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	62	BTB.				cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CACACTTACCGAAAATATTGG	0.363000														74			27		0	0	0.000878237	0	0
PLAG1	5324	broad.mit.edu	37	8	57079566	57079566	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr8:57079566G>A	uc003xsq.4	-	2	1190	c.739C>T	c.(739-741)Cca>Tca	p.P247S	PLAG1_uc003xsr.4_Missense_Mutation_p.P247S|PLAG1_uc010lyi.3_Missense_Mutation_p.P247S|PLAG1_uc010lyj.3_Missense_Mutation_p.P165S|PLAG1_uc022aur.1_Missense_Mutation_p.P165S	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	247	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			AAATCCACTGGTTCTGTTTTG	0.448000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									161			58		0	0	0.000781405	0	0
FHDC1	85462	broad.mit.edu	37	4	153896869	153896869	+	Missense_Mutation	SNP	C	T	T	rs141856992	byFrequency	TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:153896869C>T	uc003inf.2	+	10	2501	c.2426C>T	c.(2425-2427)tCc>tTc	p.S809F		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	809					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGCTCCATGTCCTCTGGGGTT	0.652000														44			29		0	0	0.00127121	0	0
POGK	57645	broad.mit.edu	37	1	166819622	166819622	+	Silent	SNP	C	G	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:166819622C>G	uc001gdt.1	+	4	1926	c.1806C>G	c.(1804-1806)acC>acG	p.T602T	POGK_uc010ple.1_Silent_p.T517T|POGK_uc010plf.1_Silent_p.T484T	NM_017542	NP_060012	Q9P215	POGK_HUMAN	Homo sapiens pogo transposable element with KRAB domain (POGK), mRNA.	602					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						ATTGTGACACCGAAAGCATGG	0.493000														21			10		0	0	0.00185496	0	0
GPLD1	2822	broad.mit.edu	37	6	24454254	24454254	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:24454254C>T	uc003ned.1	-	13	1435	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	GPLD1_uc010jpr.1_Missense_Mutation_p.E279K|GPLD1_uc010jps.1_Missense_Mutation_p.E442K	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	442						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TGGAAGCCTTCAAGGATCCTG	0.527000														84			34		0	0	0.00111076	0	0
GPR19	2842	broad.mit.edu	37	12	12814919	12814919	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr12:12814919A>G	uc001rar.3	-	1	657	c.464T>C	c.(463-465)gTt>gCt	p.V155A	GPR19_uc001raq.2_Missense_Mutation_p.V155A|GPR19_uc021qvj.1_Missense_Mutation_p.V155A	NM_006143	NP_006134	Q15760	GPR19_HUMAN	Homo sapiens G protein-coupled receptor 19 (GPR19), mRNA.	155						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GGAGAGGAGAACGTAGATCTG	0.502000														46			18		0	0	0.00074312	0	0
RSBN1L	222194	broad.mit.edu	37	7	77408174	77408174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr7:77408174C>T	uc010ldt.1	+	7	2274	c.2230C>T	c.(2230-2232)Cat>Tat	p.H744Y		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	744						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGATAAACTTCATTCTAAATA	0.358000														25			28		0	0	0.000878237	0	0
REXO1L1	254958	broad.mit.edu	37	8	86567381	86567381	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr8:86567381G>A	uc003ydl.1	-	0	525	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	503						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						CACAGTCCAAGGCGTAGATTC	0.592000														117			8		0	0	0.00136819	0	0
AGAP9	642517	broad.mit.edu	37	10	47193377	47193377	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:47193377T>C	uc009xnf.2	-	7	854	c.742A>G	c.(742-744)Atg>Gtg	p.M248V	AGAP9_uc001jei.3_Non-coding_Transcript	NM_001190810	NP_001177739	D3YTF3	D3YTF3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 (AGAP9), mRNA.	248					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GACCAGCGCATGGACAGCTTG	0.582000														5			6		0	0	0.00198382	0	0
EXD1	161829	broad.mit.edu	37	15	41476472	41476472	+	Missense_Mutation	SNP	C	T	T	rs143293058	byFrequency	TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:41476472C>T	uc010ucv.2	-	11	1648	c.1376G>A	c.(1375-1377)gGg>gAg	p.G459E	EXD1_uc001znj.3_Missense_Mutation_p.G199E|EXD1_uc001znk.3_Missense_Mutation_p.G401E	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	401					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						ACTGGTTTCCCCTTCCTCTGT	0.403000														72			38		0	0	0.00128727	0	0
BANK1	55024	broad.mit.edu	37	4	102981499	102981499	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:102981499T>A	uc003hvy.4	+	11	2375	c.2101T>A	c.(2101-2103)Ttt>Att	p.F701I	BANK1_uc003hvx.4_Missense_Mutation_p.F686I|BANK1_uc010ill.3_Missense_Mutation_p.F568I|BANK1_uc003hvz.4_Missense_Mutation_p.F671I	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	701					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TCTGGAGAAATTTAAACACTG	0.463000														36			21		0	0	0.00188189	0	0
GLDN	342035	broad.mit.edu	37	15	51687050	51687050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr15:51687050G>A	uc002aba.3	+	4	729	c.560G>A	c.(559-561)gGa>gAa	p.G187E	GLDN_uc002abb.3_Missense_Mutation_p.G63E	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	187	Collagen-like 1.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		p.G187E(2)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GGAGCTGCAGGAAATCCAGGG	0.488000														19			9		0	0	0.000274275	0	0
LRIG1	26018	broad.mit.edu	37	3	66434512	66434512	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr3:66434512G>A	uc003dmx.3	-	13	1988	c.1974C>T	c.(1972-1974)ttC>ttT	p.F658F	SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Silent_p.F278F|LRIG1_uc003dmw.3_Silent_p.F324F|LRIG1_uc010hnz.3_Silent_p.F374F|LRIG1_uc010hoa.3_Intron	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	658	Ig-like C2-type 2.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CATCAGTGATGAAAAACACGT	0.527000														35			19		0	0	0.00074312	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222821	140222821	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:140222821G>A	uc003lhs.2	+	0	1915	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.E639K	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	650	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCTGGACGAAGCGGACTC	0.647000														61			26		0	0	0.0024448	0	0
LAMB3	3914	broad.mit.edu	37	1	209799004	209799004	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:209799004G>A	uc001hhg.3	-	12	2355	c.1965C>T	c.(1963-1965)atC>atT	p.I655I	LAMB3_uc009xco.3_Silent_p.I655I|LAMB3_uc001hhh.3_Silent_p.I655I|LAMB3_uc010psl.1_Intron|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	655	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGAGGGAGAGGATGGCACTGG	0.542000														90			29		0	0	0.0024448	0	0
ACADL	33	broad.mit.edu	37	2	211068111	211068111	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr2:211068111T>C	uc002vdz.4	-	7	1156	c.928A>G	c.(928-930)Acc>Gcc	p.T310A		NM_001608	NP_001599	P28330	ACADL_HUMAN	Homo sapiens acyl-CoA dehydrogenase, long chain (ACADL), nuclear gene encoding mitochondrial protein, mRNA.	310					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TAGTTCCTGGTTTCTTCAAAC	0.348000														18			10		0	0	0.000978159	0	0
MYH11	4629	broad.mit.edu	37	16	15813103	15813103	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr16:15813103C>T	uc002ddx.3	-	36	5273	c.5166G>A	c.(5164-5166)gaG>gaA	p.E1722E	MYH11_uc002ddv.3_Silent_p.E1722E|MYH11_uc002ddw.3_Silent_p.E1715E|MYH11_uc002ddy.3_Silent_p.E1715E|MYH11_uc010bvg.3_Silent_p.E1547E|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Silent_p.E421E|NDE1_uc002ddz.1_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1715					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGGCCAGCTCCTCTGCCAGTT	0.612000			T	CBFB	AML									27			22		0	0	0.000878237	0	0
CD300E	342510	broad.mit.edu	37	17	72610156	72610156	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr17:72610156C>T	uc002jlb.2	-	2	542	c.405G>A	c.(403-405)agG>agA	p.R135R		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	Homo sapiens CD300e molecule (CD300E), mRNA.	135						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GTGTGGTCCTCCTTGGGGTTG	0.542000														41			14		0	0	0.000308642	0	0
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:182812436T>G	uc001gpr.3	+	2	294	c.119T>G	c.(118-120)gTg>gGg	p.V40G	DHX9_uc001gps.3_5'UTR	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	40	DRBM 1.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.V40G(16)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGGTTCAGGTGGAAGGTTAT	0.333000														41			9		0	0	0.00244969	0	0
RP1L1	94137	broad.mit.edu	37	8	10466270	10466270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr8:10466270C>T	uc003wtc.3	-	3	5567	c.5338G>A	c.(5338-5340)Gaa>Aaa	p.E1780K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1780					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCACTGGTTTCACTGTTGTGG	0.567000														54			67		0	0	0.000781405	0	0
TBC1D12	23232	broad.mit.edu	37	10	96201761	96201761	+	Silent	SNP	C	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:96201761C>A	uc001kjr.2	+	1	1265	c.1080C>A	c.(1078-1080)tcC>tcA	p.S360S		NM_015188	NP_056003	O60347	TBC12_HUMAN	Homo sapiens TBC1 domain family, member 12 (TBC1D12), mRNA.	360						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				AGAAAACATCCAAAATCATTC	0.348000														34			15		2.23348e-06	1.16705e-05	0.000422831	1	0
MYO6	4646	broad.mit.edu	37	6	76558070	76558070	+	Silent	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:76558070C>T	uc003pih.1	+	10	1179	c.900C>T	c.(898-900)taC>taT	p.Y300Y	MYO6_uc003pig.1_Silent_p.Y300Y|MYO6_uc003pii.1_Silent_p.Y300Y	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	300	Myosin head-like.|Responsible for slow ATPase activity (By similarity).				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TTTTGTAGTACCTTAAGGCAG	0.338000														40			27		0	0	0.001512	0	0
PNN	5411	broad.mit.edu	37	14	39650491	39650491	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr14:39650491G>A	uc001wuw.4	+	8	1675	c.1578G>A	c.(1576-1578)gaG>gaA	p.E526E		NM_002687	NP_002678	Q9H307	PININ_HUMAN	Homo sapiens pinin, desmosome associated protein (PNN), mRNA.	526					cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TACTACCTGAGAGGAAGGATT	0.473000														103			6		0	0	0.00116845	0	0
PRR16	51334	broad.mit.edu	37	5	120022371	120022371	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr5:120022371G>A	uc003ksq.3	+	1	1045	c.882G>A	c.(880-882)acG>acA	p.T294T	PRR16_uc003ksp.3_Silent_p.T271T|PRR16_uc003ksr.3_Silent_p.T224T	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	294										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CACAGAAGACGATCTTGAGGA	0.398000														31			22		0	0	0.000878237	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953953	161953953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:161953953C>T	uc010pkq.2	-	7	2192	c.1768G>A	c.(1768-1770)Gac>Aac	p.D590N	OLFML2B_uc001gbt.3_Missense_Mutation_p.D72N|OLFML2B_uc001gbu.3_Missense_Mutation_p.D589N	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	589	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGCTTCAGGTCGTACTTGATG	0.602000														32			28		0	0	0.00106085	0	0
COL19A1	1310	broad.mit.edu	37	6	70856749	70856749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:70856749G>A	uc003pfc.1	+	26	1978	c.1861G>A	c.(1861-1863)Ggc>Agc	p.G621S	COL19A1_uc010kam.2_Missense_Mutation_p.G517S	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	621	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGGGACATAGGCCCACAAGG	0.433000														31			14		0	0	0.000422831	0	0
QRICH2	84074	broad.mit.edu	37	17	74287236	74287236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr17:74287236G>A	uc002jrd.1	-	3	3254	c.3074C>T	c.(3073-3075)cCc>cTc	p.P1025L	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1025							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CACTGCCGTGGGGAAACTAGA	0.532000														99			75		0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9062546	9062546	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr19:9062546G>A	uc002mkp.3	-	2	25104	c.24900C>T	c.(24898-24900)ctC>ctT	p.L8300L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8302	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						GGCCAGGGTTGAGAAGAGAAG	0.512000														31			35		0	0	0.000953801	0	0
SPEN	23013	broad.mit.edu	37	1	16265266	16265266	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:16265266G>A	uc001axk.1	+	13	10962	c.10758G>A	c.(10756-10758)gaG>gaA	p.E3586E	SPEN_uc010obp.1_Silent_p.E3545E	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	3586	SPOC.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTGACCAAGAGGATGTTGTGA	0.602000														25			14		0	0	0.00244969	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261292	21261292	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr16:21261292G>A	uc010bwp.1	+	1	448	c.405G>A	c.(403-405)ctG>ctA	p.L135L	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	135										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TCACCAGGCTGAAGGAGCAGG	0.542000														17			14		0	0	0.00244969	0	0
ITGA8	8516	broad.mit.edu	37	10	15729985	15729985	+	Silent	SNP	G	A	A			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr10:15729985G>A	uc001ioc.1	-	2	396	c.396C>T	c.(394-396)tcC>tcT	p.S132S	ITGA8_uc010qcb.1_Silent_p.S132S	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	132					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ACCACTGATTGGATTTGAACT	0.428000														68			33		0	0	0.000814825	0	0
AFAP1	60312	broad.mit.edu	37	4	7780554	7780554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr4:7780554C>T	uc011bwk.1	-	13	2105	c.1832G>A	c.(1831-1833)gGg>gAg	p.G611E	AFAP1_uc003gkg.1_Missense_Mutation_p.G527E|AFAP1-AS1_uc003gkd.4_Non-coding_Transcript	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	564	Interaction with F-actin (By similarity).					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CAGAGTCTTCCCTTTTCCTGT	0.453000														79			50		0	0	0.000781405	0	0
C3orf20	84077	broad.mit.edu	37	3	14744697	14744697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr3:14744697C>T	uc003byy.3	+	5	1258	c.806C>T	c.(805-807)cCt>cTt	p.P269L	C3orf20_uc003byz.3_Missense_Mutation_p.P147L|C3orf20_uc003bza.3_Missense_Mutation_p.P147L|C3orf20_uc003byx.2_Missense_Mutation_p.P269L	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	269						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GTGGGAACCCCTGCCAACAGC	0.592000														87			42		0	0	0.000781405	0	0
TXNIP	10628	broad.mit.edu	37	1	145441200	145441202	+	In_Frame_Del	DEL	CAA	-	-			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr1:145441200_145441202delCAA	uc001enn.4	+	7	1499_1501	c.1158_1160delCAA	c.(1156-1161)ctcaac>ctc	p.N389del	TXNIP_uc010oys.2_In_Frame_Del_p.N334del	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	389					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.N389delN(2)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGCATCCTCAACAACAATGTG	0.394													---	28	---	---	22	---					
SLC29A1	2030	broad.mit.edu	37	6	44198607	44198608	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr6:44198607_44198608insT	uc003oww.1	+	8	1176_1177	c.984_985insT	c.(982-987)aagttgfs	p.K328fs	SLC29A1_uc003owu.1_Frame_Shift_Ins_p.K249fs|SLC29A1_uc003owv.1_Frame_Shift_Ins_p.K249fs|SLC29A1_uc003owx.1_Frame_Shift_Ins_p.K249fs|SLC29A1_uc003owy.1_Frame_Shift_Ins_p.K249fs|SLC29A1_uc003owz.1_Frame_Shift_Ins_p.K249fs	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	249					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	AGGAGACCAAGTTGGACCTCAT	0.540													---	173	---	---	50	---					
PABPC3	5042	broad.mit.edu	37	13	25671273	25671273	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2MN-06A-11D-A197-08	TCGA-EE-A2MN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f38534-a0a1-41bb-91d8-adbb47e1a0d5	fb302ab2-fc97-4e33-b37d-442d762ba928	g.chr13:25671273delG	uc001upy.3	+	0	998	c.937delG	c.(937-939)gcgfs	p.A313fs		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	313	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTCCGGAAAGCGTTTTCTCC	0.408													---	300	---	---	7	---