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
FGF13	2258	broad.mit.edu	37	X	137715099	137715099	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:137715099C>T	uc004fam.3	-	4	1312	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	FGF13_uc004fan.3_Missense_Mutation_p.R164Q|FGF13_uc011mwi.2_Missense_Mutation_p.R198Q|FGF13_uc004faq.3_Missense_Mutation_p.R227Q|FGF13_uc004far.3_Missense_Mutation_p.R198Q|FGF13_uc011mwj.2_Missense_Mutation_p.R227Q|FGF13_uc011mwk.2_Missense_Mutation_p.R171Q	NM_004114	NP_004105	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA.	217					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	p.R217Q(4)|p.R227Q(2)|p.R164Q(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GCTTCCAGATCGGGAGAACTC	0.517000														26			11		0	0	0.00010058	0	0
KRT5	3852	broad.mit.edu	37	12	52913666	52913666	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:52913666C>T	uc001san.3	-	0	578	c.415G>A	c.(415-417)Ggt>Agt	p.G139S	KRT5_uc009zmh.3_Missense_Mutation_p.G139S	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	139	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTTGGATACCTCCAGGAGGG	0.622000														48			11		0	0	0.000673444	0	0
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:35930362T>C	uc010kxc.3	+	9	1175	c.951T>C	c.(949-951)taT>taC	p.Y317Y	SEPT7_uc011kat.2_Silent_p.Y317Y|SEPT7_uc011kau.2_Silent_p.Y283Y|SEPT7_uc011kav.2_Silent_p.Y266Y	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.	319					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323000														15			4		0	0	0.00024832	0	0
PBXIP1	57326	broad.mit.edu	37	1	154923827	154923827	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:154923827C>T	uc001ffr.3	-	4	349	c.290G>A	c.(289-291)gGa>gAa	p.G97E	PBXIP1_uc001ffs.3_Missense_Mutation_p.G68E|PBXIP1_uc010pep.2_Intron|PBXIP1_uc009woy.1_Non-coding_Transcript	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	97					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TACTGTGTCTCCTGGGCCAGG	0.627000														34			32		0	0	0.000409698	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356406	37356406	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:37356406G>A	uc002xjc.3	+	1	965	c.702G>A	c.(700-702)ccG>ccA	p.P234P		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	234					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	ACAGCTTCCCGGGGCTGCCCG	0.597000														33			8		0	0	0.000442599	0	0
C1orf201	90529	broad.mit.edu	37	1	24687382	24687382	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:24687382C>A	uc001bjc.3	-	7	1054	c.887G>T	c.(886-888)cGg>cTg	p.R296L	GRHL3_uc021oiw.1_Intron|C1orf201_uc010oej.2_Intron|C1orf201_uc001bjb.3_Missense_Mutation_p.R204L|C1orf201_uc001bja.3_Missense_Mutation_p.R249L|C1orf201_uc001bjd.3_Missense_Mutation_p.R296L	NM_001199013	NP_001185942	Q5TH74	CA201_HUMAN	Homo sapiens chromosome 1 open reading frame 201 (C1orf201), transcript variant 1, mRNA.	296										breast(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	15		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)		CGCTGTCCACCGGCTGGTATT	0.517000														213			7		0.000978159	0.00955341	0.000978159	1	0
SLC6A18	348932	broad.mit.edu	37	5	1238113	1238113	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:1238113C>T	uc003jby.2	+	4	793	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	224					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GACCATCTTTCTCATCAGAGG	0.493000														92			22		0	0	0.00106085	0	0
TMC1	117531	broad.mit.edu	37	9	75387400	75387400	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:75387400C>T	uc004aiz.1	+	12	1353	c.813C>T	c.(811-813)ttC>ttT	p.F271F	TMC1_uc010moz.1_Silent_p.F229F|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Silent_p.F125F|TMC1_uc010mpa.1_Silent_p.F125F	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	271					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GGATGAATTTCAGGTTGCCGC	0.398000														37			38		0	0	0.000228196	0	0
KANSL1	284058	broad.mit.edu	37	17	44108899	44108899	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:44108899G>A	uc002ikc.3	-	14	3732	c.3261C>T	c.(3259-3261)ccC>ccT	p.P1087P	KANSL1_uc002ikd.3_Silent_p.P1087P|KANSL1_uc010dav.3_Silent_p.P1086P|KANSL1_uc010wkb.2_Silent_p.P418P|KANSL1_uc010wkc.2_Silent_p.P355P	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	1087						MLL1 complex	protein binding										GACTCTTGAGGGGGACAATGG	0.617000														50			5		0	0	8.12818e-05	0	0
KDM5C	8242	broad.mit.edu	37	X	53245345	53245345	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:53245345G>A	uc004drz.3	-	5	1225	c.692C>T	c.(691-693)cCa>cTa	p.P231L	KDM5C_uc022bxe.1_Missense_Mutation_p.P164L|KDM5C_uc004dsa.3_Missense_Mutation_p.P230L	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	231					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TTTCAGCTCTGGATTCTTCTC	0.502000			"""N, F, S"""		clear cell renal carcinoma									54			12		0	0	0.000422831	0	0
INPP4A	3631	broad.mit.edu	37	2	99204045	99204045	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:99204045G>A	uc002syy.3	+	25	3301	c.2908G>A	c.(2908-2910)Ggg>Agg	p.G970R	INPP4A_uc010yvk.2_Missense_Mutation_p.G931R|INPP4A_uc002syx.3_Missense_Mutation_p.G965R|INPP4A_uc010fik.3_Missense_Mutation_p.G299R	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	970					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.E969K(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GCCTCCCGAAGGGACTTACGG	0.403000														109			28		0	0	0.000339439	0	0
SSX3	10214	broad.mit.edu	37	X	48214155	48214155	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:48214155G>A	uc004djd.1	-	2	190	c.96C>T	c.(94-96)ttC>ttT	p.F32F	SSX3_uc004dje.3_Silent_p.F32F|SSX3_uc010nic.3_Silent_p.F32F	NM_021014	NP_066294	Q99909	SSX3_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA.	32	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CTTCCTTAGAGAAGTATTTGG	0.408000														35			8		0	0	0.000157383	0	0
CASC5	57082	broad.mit.edu	37	15	40949309	40949309	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:40949309C>T	uc010bbs.1	+	23	6793	c.6632C>T	c.(6631-6633)tCc>tTc	p.S2211F	CASC5_uc010bbt.1_Missense_Mutation_p.S2185F	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	2211	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		gaaaaggaatcctggaagaag	0.388000														61			11		0	0	0.000978159	0	0
CILP2	148113	broad.mit.edu	37	19	19654772	19654772	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:19654772G>A	uc002nmw.4	+	7	1521	c.1436G>A	c.(1435-1437)gGg>gAg	p.G479E	CILP2_uc002nmv.4_Missense_Mutation_p.G473E	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	473						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCCCCTCGGGGGCTGGTCCGG	0.667000														26			4		0	0	0.000602214	0	0
VPS33A	65082	broad.mit.edu	37	12	122723180	122723181	+	Missense_Mutation	DNP	CC	AA	AA	rs149119632		TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:122723180_122723181CC>AA	uc001ucd.3	-	9	1368_1369	c.1255_1256GG>TT	c.(1255-1257)ggg>TTg	p.G419L	VPS33A_uc001ucc.3_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	419					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.G419W(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TTGTTTGAGCCCACTATTACAC	0.356000														277			10		0	0	6.4e-05	0	0
SPTLC2	9517	broad.mit.edu	37	14	77987828	77987829	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:77987828_77987829GG>AA	uc001xub.3	-	9	1587_1588	c.1399_1400CC>TT	c.(1399-1401)cca>TTa	p.P467L		NM_004863	NP_004854	O15270	SPTC2_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 2 (SPTLC2), mRNA.	467				KECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVV -> NGI TIHEVVQTRNTYHRFSPLSPVFSHQCLWIML (in Ref. 5).		integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGGCACTACTGGAGAGTCTTCA	0.446000														35			10		0	0	6.4e-05	0	0
CPNE5	57699	broad.mit.edu	37	6	36711495	36711495	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:36711495C>T	uc003omr.1	-	19	1601	c.1534G>A	c.(1534-1536)Ggg>Agg	p.G512R	CPNE5_uc003omp.1_Missense_Mutation_p.G220R|CPNE5_uc010jwn.1_Missense_Mutation_p.G162R|CPNE5_uc003omq.1_Missense_Mutation_p.G162R	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	512	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCCAGCTTCCCCCGGGAGGAG	0.657000														99			16		0	0	0.00074312	0	0
NMBR	4829	broad.mit.edu	37	6	142409673	142409673	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:142409673C>T	uc003qiu.3	-	0	264	c.123G>A	c.(121-123)gtG>gtA	p.V41V		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	41					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CACAGCGGATCACCAACTCCG	0.607000														17			8		0	0	0.000274275	0	0
ATP2C2	9914	broad.mit.edu	37	16	84486767	84486767	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:84486767G>A	uc010chj.3	+	18	1944	c.1855G>A	c.(1855-1857)Ggg>Agg	p.G619R	ATP2C2_uc002fhx.3_Missense_Mutation_p.G619R|ATP2C2_uc002fhy.3_Missense_Mutation_p.G636R|ATP2C2_uc002fhz.3_Missense_Mutation_p.G468R	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	619					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.G619R(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCTGTGCAACGGGAAGCTGCA	0.672000														26			9		0	0	0.000274275	0	0
ZNF610	162963	broad.mit.edu	37	19	52857508	52857508	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:52857508C>T	uc002pyx.4	+	4	601	c.195C>T	c.(193-195)atC>atT	p.I65I	ZNF610_uc002pyy.4_Silent_p.I65I|ZNF610_uc002pyz.4_Intron|ZNF610_uc002pza.3_Silent_p.I65I	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TAACAGGAATCTGTCTTCCTG	0.388000														59			6		0	0	8.12818e-05	0	0
GPAA1	8733	broad.mit.edu	37	8	145138651	145138652	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr8:145138651_145138652GG>AA	uc003zax.3	+	3	511_512	c.401_402GG>AA	c.(400-402)cgg>cAA	p.R134Q	GPAA1_uc003zav.1_Missense_Mutation_p.R12Q|GPAA1_uc003zaw.1_Missense_Mutation_p.R74Q	NM_003801	NP_003792	O43292	GPAA1_HUMAN	Homo sapiens glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast) (GPAA1), mRNA.	134					C-terminal protein lipidation|attachment of GPI anchor to protein|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCATCCTGCGGGCCCCGCGTG	0.653000														36			6		0	0	6.4e-05	0	0
APC2	10297	broad.mit.edu	37	19	1468588	1468588	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:1468588G>A	uc002lsr.1	+	14	5496	c.5288G>A	c.(5287-5289)gGg>gAg	p.G1763E	APC2_uc002lss.1_Missense_Mutation_p.G1345E|APC2_uc002lst.1_Missense_Mutation_p.G1763E|APC2_uc002lsu.1_Missense_Mutation_p.G1762E|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	1763					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACCAGCGGGAGCCCCCGT	0.672000														6			3		0	0	0.00024832	0	0
MYB	4602	broad.mit.edu	37	6	135507108	135507108	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:135507108C>T	uc003qfh.3	+	1	290	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Missense_Mutation_p.P31S|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_5'UTR|MYB_uc003qfw.3_5'UTR|MYB_uc010kgi.3_Missense_Mutation_p.P31S|MYB_uc003qfq.3_Missense_Mutation_p.P31S|MYB_uc010kgj.3_Missense_Mutation_p.P31S|MYB_uc003qfo.3_Missense_Mutation_p.P31S|MYB_uc003qfu.3_Missense_Mutation_p.P31S|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Missense_Mutation_p.P31S|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Non-coding_Transcript|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Missense_Mutation_p.P31S|MYB_uc003qgd.1_5'Flank	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	31					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TGGGCTGCTTCCCAAGTCTGG	0.438000			T	NFIB	adenoid cystic carcinoma									29			10		0	0	0.000673444	0	0
ITGA1	3672	broad.mit.edu	37	5	52229798	52229798	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:52229798T>C	uc003jou.3	+	22	3350	c.2936T>C	c.(2935-2937)aTt>aCt	p.I979T	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.I510T	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	979					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ACTGAGGACATTGGAAATGAA	0.274000														45			6		0	0	3.59834e-05	0	0
OTOA	146183	broad.mit.edu	37	16	21728346	21728346	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:21728346A>T	uc002djh.3	+	13	1608	c.1607A>T	c.(1606-1608)gAt>gTt	p.D536V	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.D457V|OTOA_uc002dji.3_Missense_Mutation_p.D212V|OTOA_uc010vbk.2_Missense_Mutation_p.D184V	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	550					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GTCCTGAAGGATAAGGAACTT	0.433000														61			8		0	0	0.000673444	0	0
VIL1	7429	broad.mit.edu	37	2	219295545	219295545	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:219295545G>A	uc002vib.3	+	8	1068	c.1046G>A	c.(1045-1047)tGg>tAg	p.W349*	VIL1_uc010zke.2_Nonsense_Mutation_p.W38*|VIL1_uc002via.3_Nonsense_Mutation_p.W349*|VIL1_uc002vic.1_Nonsense_Mutation_p.W349*	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	349	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCCAGAAGTGGACAGCGTCC	0.612000														39			5		0	0	0.000602214	0	0
SLC22A7	10864	broad.mit.edu	37	6	43269383	43269383	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:43269383C>T	uc021yzt.1	+	6	1113	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	SLC22A7_uc010jyl.1_Silent_p.F339F|SLC22A7_uc003ous.3_Silent_p.F336F|SLC22A7_uc003out.3_Silent_p.F336F	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	338						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TAGACCTGTTCCGCACACCAC	0.602000														35			8		0	0	0.000274275	0	0
CLIC1	1192	broad.mit.edu	37	6	31698736	31698736	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:31698736G>A	uc003nwr.3	-	5	873	c.609C>T	c.(607-609)ttC>ttT	p.F203F	DDAH2_uc003nwp.3_5'Flank|DDAH2_uc003nwq.3_5'Flank	NM_001288	NP_001279	O00299	CLIC1_HUMAN	Homo sapiens chloride intracellular channel 1 (CLIC1), mRNA.	203	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GCACTCCCCGGAAGGCCTCGG	0.577000														328			63		0	0	0.000781405	0	0
NYAP1	222950	broad.mit.edu	37	7	100087049	100087049	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:100087049G>A	uc003uvd.1	+	3	1864	c.1705G>A	c.(1705-1707)Gct>Act	p.A569T	NYAP1_uc003uve.1_Missense_Mutation_p.A351T	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	569																	GAGCCTCAAGGCTGGGGGGGT	0.647000														28			24		0	0	0.000720815	0	0
ALDH3B2	222	broad.mit.edu	37	11	67430814	67430814	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:67430814G>A	uc001omr.3	-	9	1469	c.1030C>T	c.(1030-1032)Cac>Tac	p.H344Y	ALDH3B2_uc001oms.3_Missense_Mutation_p.H344Y	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	344					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CAGGTGCGGTGGTGGGAGAAG	0.612000														28			12		0	0	0.000151284	0	0
RP1L1	94137	broad.mit.edu	37	8	10466293	10466293	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr8:10466293C>T	uc003wtc.3	-	3	5544	c.5315G>A	c.(5314-5316)aGa>aAa	p.R1772K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1772					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)		TTTCCCTTCTCTCTCCTGAGC	0.577000														105			22		0	0	0.000878237	0	0
PROKR2	128674	broad.mit.edu	37	20	5283169	5283169	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:5283169G>A	uc010zqw.2	-	1	680	c.672C>T	c.(670-672)ttC>ttT	p.F224F	PROKR2_uc010zqx.2_Silent_p.F224F|PROKR2_uc010zqy.2_Silent_p.F224F	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	224						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGATGAAGAGGAAGTAGGACT	0.537000										HNSCC(71;0.22)				67			13		0	0	0.000151284	0	0
SCARF1	8578	broad.mit.edu	37	17	1538734	1538734	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:1538734C>T	uc002fsz.1	-	10	1861	c.1811G>A	c.(1810-1812)cGa>cAa	p.R604Q	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Missense_Mutation_p.R518Q	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	604	Pro/Ser-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCTGAGCTTCGGCGACTCTG	0.677000														64			14		0	0	0.000308642	0	0
BCOR	54880	broad.mit.edu	37	X	39923809	39923809	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:39923809G>A	uc004den.4	-	6	3574	c.3282C>T	c.(3280-3282)gcC>gcT	p.A1094A	BCOR_uc004dep.4_Silent_p.A1094A|BCOR_uc004deo.4_Silent_p.A1076A|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Silent_p.A1094A	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1094					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGTCCTCTGGGGCTTCAAAGG	0.577000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							36			18		0	0	0.000175454	0	0
PDE1C	5137	broad.mit.edu	37	7	31890260	31890260	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:31890260C>T	uc003tcm.2	-	7	1307	c.846G>A	c.(844-846)caG>caA	p.Q282Q	PDE1C_uc003tcn.1_Silent_p.Q282Q|PDE1C_uc003tco.2_Silent_p.Q342Q|PDE1C_uc003tcr.3_Silent_p.Q282Q|PDE1C_uc003tcs.3_Silent_p.Q282Q	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	282	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTCACCGAGTCTGAATGTGGA	0.453000														25			7		0	0	0.000274275	0	0
CSMD1	64478	broad.mit.edu	37	8	2830697	2830697	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr8:2830697G>A	uc022aqr.1	-	56	9255	c.8865C>T	c.(8863-8865)tcC>tcT	p.S2955S	CSMD1_uc011kwj.2_Silent_p.S2285S|CSMD1_uc010lrg.3_Silent_p.S966S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2956	Sushi 22.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCGTTCAGGGGAGCCCCTCA	0.547000														21			7		0	0	0.000157383	0	0
KIAA2022	340533	broad.mit.edu	37	X	73965442	73965442	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:73965442C>T	uc004eby.3	-	1	661	c.44G>A	c.(43-45)gGa>gAa	p.G15E		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	15					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGTGTTTTCTCCGTTGGCTGA	0.358000														13			4		0	0	0.00024832	0	0
DNAJC10	54431	broad.mit.edu	37	2	183621054	183621054	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:183621054C>T	uc002uow.1	+	17	2082	c.1667C>T	c.(1666-1668)cCt>cTt	p.P556L	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.P510L|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	556					ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CTTATGAATCCTTCAGTGGTC	0.383000														33			10		0	0	0.000978159	0	0
SYNE2	23224	broad.mit.edu	37	14	64587649	64587649	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:64587649C>T	uc001xgl.3	+	67	13258	c.13028C>T	c.(13027-13029)cCt>cTt	p.P4343L	SYNE2_uc001xgm.3_Missense_Mutation_p.P4343L|SYNE2_uc021ruh.1_Missense_Mutation_p.P4358L|SYNE2_uc010apy.3_Missense_Mutation_p.P728L|SYNE2_uc010apz.1_Missense_Mutation_p.P235L	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4343					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding	p.P4343A(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGCAGCATCCTACCATTCTA	0.343000														41			7		0	0	8.12818e-05	0	0
LOC440563	440563	broad.mit.edu	37	1	13183335	13183335	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:13183335G>A	uc010obg.2	-	1	781	c.538C>T	c.(538-540)Ctt>Ttt	p.L180F		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	180						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										ATGGCCTGAAGGTCATCTCCT	0.453000														354			17		0	0	0.00074312	0	0
COL11A1	1301	broad.mit.edu	37	1	103428302	103428302	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:103428302C>T	uc001dum.3	-	38	3285	c.2967G>A	c.(2965-2967)gaG>gaA	p.E989E	COL11A1_uc001duk.3_Silent_p.E173E|COL11A1_uc001dul.3_Silent_p.E977E|COL11A1_uc001dun.3_Silent_p.E938E|COL11A1_uc009weh.3_Silent_p.E861E	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	977	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGGACCAGTCTCACCGGTTG	0.443000														23			9		0	0	0.000673444	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012782	73012782	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:73012782C>T	uc003hgg.2	+	3	920	c.822C>T	c.(820-822)atC>atT	p.I274I	NPFFR2_uc010iig.2_Silent_p.I56I|NPFFR2_uc003hgi.2_Silent_p.I175I|NPFFR2_uc003hgh.2_Silent_p.I172I	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	274					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCCTAGCCATCACCATTATGT	0.408000														66			8		0	0	0.000274275	0	0
GPATCH8	23131	broad.mit.edu	37	17	42477247	42477247	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:42477247G>A	uc002igw.2	-	7	2417	c.2198C>T	c.(2197-2199)cCa>cTa	p.P733L	GPATCH8_uc002igv.2_Missense_Mutation_p.P655L|GPATCH8_uc010wiz.2_Missense_Mutation_p.P655L	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	733						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGGGGGTTCTGGTTTGGGTCC	0.542000														62			11		0	0	0.000978159	0	0
GEM	2669	broad.mit.edu	37	8	95262715	95262715	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr8:95262715C>T	uc003ygi.3	-	4	838	c.714G>A	c.(712-714)caG>caA	p.Q238Q	GEM_uc003ygj.3_Silent_p.Q238Q	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	238					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GAAGGCGCACCTGTCGCACAA	0.582000														30			5		0	0	3.59834e-05	0	0
KIAA0430	9665	broad.mit.edu	37	16	15702291	15702291	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:15702291G>A	uc002ddr.3	-	20	4246	c.4039C>T	c.(4039-4041)Ctt>Ttt	p.L1347F	KIAA0430_uc002ddq.3_Missense_Mutation_p.L1181F|KIAA0430_uc010uzv.2_Missense_Mutation_p.L1344F|KIAA0430_uc010uzw.2_Missense_Mutation_p.L1347F	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	1346						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGGGACCGAAGGAGTTTAACA	0.413000														74			16		0	0	0.000958276	0	0
OR8K5	219453	broad.mit.edu	37	11	55927077	55927077	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:55927077G>A	uc010rja.2	-	0	717	c.717C>T	c.(715-717)tcC>tcT	p.S239S		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AACCACATGTGGAGAAAGCCT	0.408000														6			3		0	0	0.00024832	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517364	140517364	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:140517364G>A	uc003liq.3	+	0	2565	c.2348G>A	c.(2347-2349)gGg>gAg	p.G783E		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	783					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGAAATAGGGAAAACTGCT	0.468000														114			24		0	0	0.000586117	0	0
DNAH7	56171	broad.mit.edu	37	2	196774799	196774799	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:196774799G>A	uc002utj.4	-	24	4157	c.4056C>T	c.(4054-4056)ttC>ttT	p.F1352F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1352	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGAGCAGTTGAAAACAACAC	0.423000														19			5		0	0	0.000602214	0	0
ATN1	1822	broad.mit.edu	37	12	7048061	7048061	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:7048061C>T	uc001qrw.1	+	6	3172	c.2935C>T	c.(2935-2937)Ctg>Ttg	p.L979L	ATN1_uc001qrx.1_Silent_p.L979L	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	979					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GGGCCTGGCTCTGCAGCCTGG	0.672000														74			12		0	0	0.000219431	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887203	9887203	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr18:9887203C>T	uc002koi.4	+	1	1176	c.727C>T	c.(727-729)Cca>Tca	p.P243S	TXNDC2_uc002koh.4_Missense_Mutation_p.P176S|TXNDC2_uc021ugx.1_Missense_Mutation_p.P176S	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	243	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCCAAGTCCCCAGAAGAAAC	0.572000														44			9		0	0	0.000673444	0	0
SPTA1	6708	broad.mit.edu	37	1	158615155	158615155	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:158615155C>T	uc001fst.1	-	28	4216	c.4017G>A	c.(4015-4017)gaG>gaA	p.E1339E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1339					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E1339D(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAGCCTCTGCCTCCATGTCAG	0.483000														22			6		0	0	8.12818e-05	0	0
TMC2	117532	broad.mit.edu	37	20	2559848	2559848	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:2559848G>A	uc002wgf.1	+	5	717	c.702G>A	c.(700-702)tgG>tgA	p.W234*	TMC2_uc002wgg.1_Nonsense_Mutation_p.W218*|TMC2_uc010zpw.1_Nonsense_Mutation_p.W66*|TMC2_uc010zpx.1_Nonsense_Mutation_p.W65*	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	234	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTATCCCCTGGGAAATGAAGA	0.368000														38			12		0	0	0.000422831	0	0
TTN	7273	broad.mit.edu	37	2	179569996	179569996	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:179569996T>C	uc021vsy.1	-	99	26002	c.25777A>G	c.(25777-25779)Aaa>Gaa	p.K8593E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K5254E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9520	Ig-like 68.						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)			CGGGCATATTTTTCATATTCT	0.373000														26			9		0	0	0.000274275	0	0
C15orf23	90417	broad.mit.edu	37	15	40675118	40675119	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:40675118_40675119CC>TT	uc001zll.3	+	0	197_198	c.82_83CC>TT	c.(82-84)ccg>TTg	p.P28L	C15orf23_uc001zlo.3_Missense_Mutation_p.P28L|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.P28L	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	28						nucleus	protein binding			central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		CCACCCACTTCCGCCTAGCTAC	0.564000														87			10		0	0	6.4e-05	0	0
ZNF554	115196	broad.mit.edu	37	19	2832352	2832352	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:2832352C>T	uc002lwm.2	+	3	503	c.305C>T	c.(304-306)tCc>tTc	p.S102F	ZNF554_uc002lwl.2_Missense_Mutation_p.S51F	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	102	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCACTTTCCCCAGCACAA	0.438000														117			23		0	0	0.00047179	0	0
RNF181	51255	broad.mit.edu	37	2	85824241	85824241	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:85824241C>T	uc002spv.1	+	3	392	c.342C>T	c.(340-342)ccC>ccT	p.P114P		NM_016494	NP_057578	Q9P0P0	RN181_HUMAN	Homo sapiens ring finger protein 181 (RNF181), mRNA.	114							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						ATTCCTGTCCCTTGTGCCGCT	0.512000														150			40		0	0	0.000680045	0	0
TEX101	83639	broad.mit.edu	37	19	43920687	43920687	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:43920687G>T	uc002owk.3	+	6	986	c.425G>T	c.(424-426)tGg>tTg	p.W142L	TEX101_uc010xwo.2_Missense_Mutation_p.W124L	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	124						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TCTCAGTTTTGGGAGTTCAGT	0.488000														171			32		1.08052e-11	1.07475e-10	0.000814825	1	0
STARD13	90627	broad.mit.edu	37	13	33681026	33681026	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:33681026G>A	uc001uuw.3	-	12	3219	c.3093C>T	c.(3091-3093)tcC>tcT	p.S1031S	STARD13_uc001uuu.3_Silent_p.S1023S|STARD13_uc001uuv.3_Silent_p.S913S|STARD13_uc001uux.3_Silent_p.S996S	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	1031	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CCACGGAGAGGGACACCAGGG	0.532000														64			8		0	0	0.000442599	0	0
MYH8	4626	broad.mit.edu	37	17	10293814	10293814	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:10293814C>T	uc002gmm.2	-	39	5866	c.5771G>A	c.(5770-5772)cGa>cAa	p.R1924Q	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1924					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTCTTCACTCGCAATTTGTT	0.468000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					151			27		0	0	0.000720815	0	0
POLR2B	5431	broad.mit.edu	37	4	57876932	57876933	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:57876932_57876933GT>AA	uc003hcl.1	+	11	1610_1611	c.1567_1568GT>AA	c.(1567-1569)gtg>AAg	p.V523K	POLR2B_uc011cae.1_Missense_Mutation_p.V516K|POLR2B_uc011caf.1_Missense_Mutation_p.V448K|POLR2B_uc003hcm.1_Missense_Mutation_p.V16K	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	523					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TGTAGGACTTGTGAAGAATTTA	0.327000														97			16		0	0	6.4e-05	0	0
DNAH11	8701	broad.mit.edu	37	7	21628922	21628922	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:21628922G>A	uc003svc.3	+	11	2101	c.2070G>A	c.(2068-2070)tgG>tgA	p.W690*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	690	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATAATGAATGGAAAAGTAATG	0.343000									Kartagener syndrome					56			8		0	0	0.000157383	0	0
SPINK13	153218	broad.mit.edu	37	5	147653946	147653946	+	Splice_Site	SNP	A	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:147653946A>C	uc003lpc.3	+	3	311	c.108_splice	c.e3+1	p.K36_splice	AK054753_uc003lpb.1_Intron|SPINK13_uc010jgt.3_Splice_Site	NM_001040129	NP_001035218	Q1W4C9	ISK13_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 13 (putative) (SPINK13), mRNA.	36	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			breast(2)|lung(3)	5						AGGTGGCCTAAGGTAAATTTA	0.363000														111			21		0	0	0.000720815	0	0
PEG3	5178	broad.mit.edu	37	19	57327719	57327719	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:57327719G>A	uc002qnu.2	-	6	2442	c.2091C>T	c.(2089-2091)agC>agT	p.S697S	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.S668S|PEG3_uc002qnv.2_Silent_p.S697S|PEG3_uc002qnw.2_Silent_p.S573S|PEG3_uc002qnx.2_Silent_p.S571S|PEG3_uc010etr.2_Silent_p.S697S	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	697					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGAGCTCTGAGCTTTGCATGA	0.433000														35			6		0	0	3.59834e-05	0	0
SP100	6672	broad.mit.edu	37	2	231331029	231331029	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:231331029C>T	uc002vqt.3	+	11	1296	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	SP100_uc002vqs.3_Silent_p.F385F|SP100_uc002vqu.1_Silent_p.F385F|SP100_uc002vqq.2_Silent_p.F385F|SP100_uc010zmc.2_Silent_p.F360F|SP100_uc002vqv.2_Silent_p.F350F	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	385					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCATGGATTTCAGAAAATTAT	0.338000														38			14		0	0	0.000308642	0	0
HK3	3101	broad.mit.edu	37	5	176314301	176314301	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:176314301C>T	uc003mfa.3	-	11	1730	c.1638G>A	c.(1636-1638)acG>acA	p.T546T	HK3_uc003mez.3_Silent_p.T102T	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	546	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACGGAAGTTCGTGCCCCCGA	0.642000														49			13		0	0	0.000219431	0	0
ATP7B	540	broad.mit.edu	37	13	52539038	52539038	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:52539038G>A	uc001vfw.2	-	4	1996	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	ATP7B_uc001vfy.2_Silent_p.I502I|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Silent_p.I613I|ATP7B_uc010tgt.1_Silent_p.I613I|ATP7B_uc010tgu.1_Silent_p.I613I|ATP7B_uc010tgv.1_Silent_p.I613I|ATP7B_uc010tgs.1_5'Flank|ATP7B_uc010tgw.1_Intron	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	613	HMA 6.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCCGTGGACCGATAATTTCCG	0.368000									Wilson disease					89			20		0	0	0.000229342	0	0
BHMT	635	broad.mit.edu	37	5	78411693	78411693	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:78411693C>T	uc003kfu.4	+	1	242	c.137C>T	c.(136-138)cCt>cTt	p.P46L	BHMT_uc011cti.2_Missense_Mutation_p.P46L	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	46	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CCCTGGACTCCTGAAGCTGCT	0.517000														28			9		0	0	0.000274275	0	0
GPR119	139760	broad.mit.edu	37	X	129519283	129519283	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:129519283G>A	uc011muv.2	-	0	229	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L		NM_178471	NP_848566	Q8TDV5	GP119_HUMAN	Homo sapiens G protein-coupled receptor 119 (GPR119), mRNA.	47						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GCCACAGCCAGATTCAAGGTG	0.552000														63			26		0	0	0.00047179	0	0
SLC16A14	151473	broad.mit.edu	37	2	230902209	230902209	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:230902209A>T	uc002vqd.2	-	4	1879	c.1420T>A	c.(1420-1422)Ttc>Atc	p.F474I	FBXO36_uc010fxi.1_Intron	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	474						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CATATGTAGAAGGAAAAATCA	0.328000														44			10		0	0	0.000442599	0	0
ANK2	287	broad.mit.edu	37	4	114294472	114294472	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:114294472C>T	uc003ibe.4	+	44	11826	c.11726C>T	c.(11725-11727)tCc>tTc	p.S3909F	ANK2_uc003ibd.4_Missense_Mutation_p.S1815F|ANK2_uc003ibf.4_Missense_Mutation_p.S1824F|ANK2_uc011cgc.2_Missense_Mutation_p.S1000F|ANK2_uc003ibg.4_Missense_Mutation_p.S839F|ANK2_uc003ibh.4_Missense_Mutation_p.S529F|ANK2_uc010ims.3_5'UTR|ANK2_uc010imr.3_5'UTR	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3876					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGGTATGTATCCTCTGAAGGC	0.383000														19			9		0	0	0.000978159	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971029	21971029	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:21971029C>T	uc003zpk.3	-	1	635	c.329G>A	c.(328-330)tGg>tAg	p.W110*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.W110*|CDKN2A_uc003zpl.3_Silent_p.L124L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	110					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.W110*(58)|p.?(44)|p.L165L(2)|p.A109V(2)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A109T(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.A109A(1)|p.W110fs*36(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				94			92		0	0	0.000781405	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545621	234545621	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:234545621T>A	uc002vur.3	+	0	499	c.453T>A	c.(451-453)gaT>gaA	p.D151E	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.D151E	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	154					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.D151N(1)|p.T150M(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ATCCTTTTGATACCTGTGGCT	0.403000														72			15		0	0	0.000219431	0	0
ABCA4	24	broad.mit.edu	37	1	94506906	94506906	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:94506906C>T	uc001dqh.3	-	22	3485	c.3381G>A	c.(3379-3381)ggG>ggA	p.G1127G		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1127	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAATGCGGTCCCCAAGGAGGT	0.592000														40			10		0	0	0.000673444	0	0
GZMK	3003	broad.mit.edu	37	5	54326316	54326316	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:54326316G>A	uc003jpl.1	+	2	311	c.267G>A	c.(265-267)aaG>aaA	p.K89K		NM_002104	NP_002095	P49863	GRAK_HUMAN	Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.	89	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTCTCTCAAAGAATGAGGCCT	0.393000														48			14		0	0	0.000151284	0	0
MDH1B	130752	broad.mit.edu	37	2	207629981	207629981	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:207629981G>A	uc002vbs.3	-	0	70	c.15C>T	c.(13-15)gtC>gtT	p.V5V	MDH1B_uc010ziw.2_Non-coding_Transcript|MDH1B_uc002vbt.3_Non-coding_Transcript|MDH1B_uc010fui.3_Silent_p.V5V|MDH1B_uc021vvm.1_5'UTR|FASTKD2_uc002vbu.3_5'Flank|FASTKD2_uc002vbv.3_5'Flank|FASTKD2_uc002vbx.3_5'Flank|FASTKD2_uc002vbw.1_5'Flank	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	5					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CACCCGCGATGACGAATTTGG	0.637000														79			13		0	0	0.000219431	0	0
KCNH1	3756	broad.mit.edu	37	1	210857430	210857430	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:210857430C>T	uc001hib.2	-	10	2333	c.2163G>A	c.(2161-2163)atG>atA	p.M721I	KCNH1_uc001hic.2_Missense_Mutation_p.M694I	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	721	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCTTTCGTTTCATGCGTTCTT	0.562000														91			20		0	0	0.000175454	0	0
WASF3	10810	broad.mit.edu	37	13	27241676	27241676	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:27241676G>A	uc001uqv.3	+	4	516	c.291G>A	c.(289-291)atG>atA	p.M97I	WASF3_uc001uqw.3_Missense_Mutation_p.M97I	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	97					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		ATATCAACATGAAAAAAGCTT	0.348000														53			7		0	0	0.000442599	0	0
TRIP12	9320	broad.mit.edu	37	2	230636271	230636271	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:230636271G>A	uc002vpx.1	-	38	5800	c.5691C>T	c.(5689-5691)ttC>ttT	p.F1897F	TRIP12_uc021vxw.1_Silent_p.F1882F|TRIP12_uc002vpy.1_Silent_p.F1579F|TRIP12_uc002vpw.1_Silent_p.F1849F	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1849	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GACTGAGTGGGAAGACTGATT	0.383000														26			11		0	0	0.000219431	0	0
OR56A4	120793	broad.mit.edu	37	11	6023653	6023653	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:6023653G>A	uc010qzv.2	-	0	726	c.726C>T	c.(724-726)ctC>ctT	p.L242L		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCACAAGAGAGTTTGGACA	0.433000														15			17		0	0	0.00074312	0	0
VSX2	338917	broad.mit.edu	37	14	74711925	74711925	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:74711925C>T	uc001xpq.3	+	2	603	c.513C>T	c.(511-513)caC>caT	p.H171H		NM_182894	NP_878314	P58304	VSX2_HUMAN	Homo sapiens visual system homeobox 2 (VSX2), mRNA.	171					multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		ACGAAGCCCACTACCCAGACG	0.562000														25			6		0	0	3.59834e-05	0	0
NLRP8	126205	broad.mit.edu	37	19	56487605	56487605	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:56487605G>A	uc002qmh.3	+	7	2883	c.2812G>A	c.(2812-2814)Gat>Aat	p.D938N	NLRP8_uc010etg.3_Missense_Mutation_p.D919N	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	938						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TAGCCTGAAGGATGATGGGGT	0.463000														34			9		0	0	0.000442599	0	0
C9orf174	100499483	broad.mit.edu	37	9	100122382	100122382	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:100122382C>T	uc011lut.2	+	40	5038	c.4032_splice	c.e40+1	p.T1344_splice	C9orf174_uc004axe.2_Splice_Site_p.T1176_splice|C9orf174_uc011lus.2_Splice_Site_p.T994_splice|C9orf174_uc004axg.2_Splice_Site_p.T1205_splice|C9orf174_uc004axh.2_Splice_Site	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	1176						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						CTGGTCTTTACCGTAAGGAAT	0.547000														93			18		0	0	0.000175454	0	0
MARK3	4140	broad.mit.edu	37	14	103958222	103958222	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:103958222C>T	uc001ymz.4	+	14	2361	c.1695C>T	c.(1693-1695)ttC>ttT	p.F565F	MARK3_uc001ymx.4_Silent_p.F565F|MARK3_uc001ymw.4_Silent_p.F565F|MARK3_uc001yna.4_Silent_p.F549F|MARK3_uc001ymy.4_Silent_p.F486F|MARK3_uc010awp.3_Silent_p.F588F|MARK3_uc010tyb.2_Silent_p.F360F|MARK3_uc010awq.3_Silent_p.F147F	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	565							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GTAGCACTTTCCACGGCCAGC	0.577000														23			11		0	0	0.00010058	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100821446	100821446	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:100821446G>A	uc002bvv.1	-	3	856	c.777C>T	c.(775-777)acC>acT	p.T259T	ADAMTS17_uc002bvx.1_Silent_p.T16T	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	259	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGTTCATGACGGTCAGGATGA	0.627000														104			10		0	0	0.000978159	0	0
CR1L	1379	broad.mit.edu	37	1	207851566	207851566	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:207851566G>A	uc001hga.4	+	2	422	c.301G>A	c.(301-303)Gat>Aat	p.D101N	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	101	Sushi 2.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TAATCCTCCAGATCCTGTGAA	0.383000														51			6		0	0	0.000157383	0	0
KCNQ3	3786	broad.mit.edu	37	8	133187715	133187715	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr8:133187715G>A	uc003ytj.3	-	4	1143	c.918C>T	c.(916-918)gcC>gcT	p.A306A	KCNQ3_uc003yti.3_Silent_p.A186A|KCNQ3_uc010mdt.3_Silent_p.A306A	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	306					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCCACCACAGGGCATCTGCAT	0.502000														59			14		0	0	0.00074312	0	0
KRT5	3852	broad.mit.edu	37	12	52910587	52910587	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:52910587G>A	uc001san.3	-	6	1436	c.1273C>T	c.(1273-1275)Ctc>Ttc	p.L425F	KRT5_uc009zmh.3_Missense_Mutation_p.L425F	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	425	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCATCCTTGAGGGCCAGCTCC	0.617000														61			5		0	0	0.000602214	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745591	140745591	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:140745591C>T	uc003lju.2	+	0	1694	c.1694C>T	c.(1693-1695)cCc>cTc	p.P565L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.P565L	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	567					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCTGTACCCCGCCCTCCCC	0.612000														100			18		0	0	0.000229342	0	0
DDX51	317781	broad.mit.edu	37	12	132624716	132624716	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:132624716C>T	uc001ujy.4	-	11	1741	c.1702G>A	c.(1702-1704)Ggc>Agc	p.G568S		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	568	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		ACGTCGATGCCTCGCGCGGTG	0.711000														39			13		0	0	0.000219431	0	0
CLCNKA	1187	broad.mit.edu	37	1	16378904	16378904	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:16378904C>T	uc001axx.4	+	14	1756	c.1620C>T	c.(1618-1620)atC>atT	p.I540I	CLCNKA_uc021ogl.1_Silent_p.I187I|CLCNKA_uc021ogm.1_Silent_p.I371I|CLCNKA_uc001axy.4_Silent_p.I371I	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	540					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GCCGCAACATCGGGTGAGTGG	0.587000														57			13		0	0	0.000422831	0	0
OGDHL	55753	broad.mit.edu	37	10	50959916	50959916	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:50959916C>T	uc009xog.3	-	4	821	c.787G>A	c.(787-789)Gag>Aag	p.E263K	OGDHL_uc001jie.3_Missense_Mutation_p.E236K|OGDHL_uc010qgt.2_Missense_Mutation_p.E179K|OGDHL_uc010qgu.2_Missense_Mutation_p.E27K|OGDHL_uc009xoh.2_Missense_Mutation_p.E27K	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	236					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CGCTTCTCCTCGCTGGAGAAC	0.602000														71			14		0	0	0.000151284	0	0
PCLO	27445	broad.mit.edu	37	7	82546123	82546123	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:82546123G>A	uc003uhx.2	-	6	11468	c.11179C>T	c.(11179-11181)Cca>Tca	p.P3727S	PCLO_uc003uhv.2_Missense_Mutation_p.P3727S|PCLO_uc010lec.3_Missense_Mutation_p.P692S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3658					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCAGGAGGTGGATTTGGCAGA	0.423000														21			6		0	0	0.000274275	0	0
CCDC40	55036	broad.mit.edu	37	17	78022387	78022387	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:78022387C>T	uc010dht.3	+	4	713	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	CCDC40_uc010wub.2_Missense_Mutation_p.P228S|CCDC40_uc021uem.1_Missense_Mutation_p.P228S|CCDC40_uc002jxm.4_Missense_Mutation_p.P11S	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	228					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCCAGTGATCCCCCCAGGGGT	0.627000														24			31		0	0	0.000409698	0	0
PARP4	143	broad.mit.edu	37	13	25029201	25029202	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:25029201_25029202GG>AA	uc001upl.3	-	21	2817_2818	c.2711_2712CC>TT	c.(2710-2712)tcc>tTT	p.S904F	PARP4_uc010tdc.2_Missense_Mutation_p.S904F	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	904	VWFA.				DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CACCCACCAAGGACAGCGCATG	0.510000														213			33		0	0	6.4e-05	0	0
GBP6	163351	broad.mit.edu	37	1	89844124	89844124	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:89844124C>T	uc001dnf.2	+	4	851	c.577C>T	c.(577-579)Cct>Tct	p.P193S	GBP6_uc010ost.1_Missense_Mutation_p.P63S	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	193							GTP binding|GTPase activity	p.H192Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GAACGGTCACCCTATCACAGA	0.488000														29			4		0	0	0.000602214	0	0
CARD11	84433	broad.mit.edu	37	7	2985512	2985513	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:2985512_2985513GG>TT	uc003smv.3	-	3	632_633	c.298_299CC>AA	c.(298-300)cca>AAa	p.P100K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	100	CARD.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTACAGTTCTGGGTAATAAAAT	0.495000			Mis		DLBCL									323			14		0	0	6.4e-05	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835175	12835175	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:12835175G>A	uc001aui.3	+	0	192	c.165G>A	c.(163-165)atG>atA	p.M55I		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	55										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGACAACTATGGTGCAGGCCT	0.582000														78			11		0	0	0.000978159	0	0
KCNB2	9312	broad.mit.edu	37	8	73480322	73480322	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr8:73480322C>T	uc003xzb.3	+	1	941	c.353C>T	c.(352-354)tCg>tTg	p.S118L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	118					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.S118L(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGTGCACTTTCGTTTGGCCAA	0.423000														21			17		0	0	0.00074312	0	0
CYP2B6	1555	broad.mit.edu	37	19	41512885	41512885	+	Missense_Mutation	SNP	G	A	A	rs141530852		TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:41512885G>A	uc002opr.1	+	3	567	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	187					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TTTGGAAAACGATTCCACTAC	0.507000														47			11		0	0	0.000151284	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798353	185798353	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:185798353G>A	uc002uph.3	+	2	873	c.279G>A	c.(277-279)agG>agA	p.R93R		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	93						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAAACAAAGGGAATTTGCTC	0.353000														3			7		0	0	8.12818e-05	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336468	30336468	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:30336468C>T	uc009xle.2	-	1	411	c.274G>A	c.(274-276)Gag>Aag	p.E92K	KIAA1462_uc001iux.3_Missense_Mutation_p.E92K|KIAA1462_uc001iuy.3_Missense_Mutation_p.E92K|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	92										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TACCCCGCCTCCGAGGTTCTG	0.557000														33			8		0	0	0.000442599	0	0
SEPP1	6414	broad.mit.edu	37	5	42801047	42801047	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:42801047C>T	uc011cps.2	-	5	1109	c.1011G>A	c.(1009-1011)ctG>ctA	p.L337L	CCDC152_uc003jmx.3_3'UTR|CCDC152_uc011cpr.1_3'UTR|SEPP1_uc011cpt.2_Silent_p.L307L|SEPP1_uc011cpu.2_Silent_p.L307L|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	307					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						TTTCAAATATCAGATGTCGAC	0.433000														44			5		0	0	8.12818e-05	0	0
TARBP1	6894	broad.mit.edu	37	1	234541794	234541794	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:234541794G>A	uc001hwd.3	-	23	3844	c.3844C>T	c.(3844-3846)Cac>Tac	p.H1282Y		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	1282					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTAAAATTGTGATTGAAACAC	0.378000														76			28		0	0	0.000491102	0	0
OR8B4	283162	broad.mit.edu	37	11	124294611	124294611	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:124294611G>A	uc010sak.2	-	0	157	c.157C>T	c.(157-159)Cct>Tct	p.P53S		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAAGGCTAGGATTTATCCCA	0.438000														7			4		0	0	0.00024832	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086700	39086700	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr21:39086700G>A	uc011aej.1	-	2	813	c.760C>T	c.(760-762)Ccg>Tcg	p.P254S	KCNJ6_uc002ywo.2_Missense_Mutation_p.P254S	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	254					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.P254P(1)|p.P254Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TGGTTCAACGGGATGAACTCC	0.502000														76			16		0	0	0.000308642	0	0
SNTG2	54221	broad.mit.edu	37	2	1079206	1079206	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:1079206G>A	uc002qwq.3	+	1	204	c.75G>A	c.(73-75)acG>acA	p.T25T	SNTG2_uc002qwp.3_Non-coding_Transcript|SNTG2_uc010ewi.3_Silent_p.T25T	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	25					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding	p.T25T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCCTACAGACGAAAACCACTA	0.478000														104			6		0	0	8.12818e-05	0	0
GRID1	2894	broad.mit.edu	37	10	87614336	87614336	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:87614336G>A	uc001kdl.1	-	7	1251	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	384						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.R384W(4)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTGTCCTCCCGAAACTCCATC	0.507000										Multiple Myeloma(13;0.14)				33			6		0	0	8.12818e-05	0	0
RERE	473	broad.mit.edu	37	1	8418267	8418267	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:8418267G>A	uc001ape.3	-	20	5138	c.4328C>T	c.(4327-4329)cCc>cTc	p.P1443L	RERE_uc001apf.3_Missense_Mutation_p.P1443L|RERE_uc001apd.3_Missense_Mutation_p.P889L	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1443	His-rich.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		Ttggtggagggggtcctgctg	0.632000														25			4		0	0	0.00024832	0	0
TNXB	7148	broad.mit.edu	37	6	32015584	32015584	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:32015584C>T	uc003nzl.2	-	29	10447	c.10245G>A	c.(10243-10245)agG>agA	p.R3415R	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3462	Fibronectin type-III 26.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCTGTATTTCCTACTGGGCT	0.602000														100			16		0	0	0.000308642	0	0
NCOA7	135112	broad.mit.edu	37	6	126242091	126242091	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:126242091C>T	uc003qai.3	+	11	2616	c.2247C>T	c.(2245-2247)atC>atT	p.I749I	NCOA7_uc010kes.3_Silent_p.I749I|NCOA7_uc003qae.4_Silent_p.I749I|NCOA7_uc010ket.3_Silent_p.I634I|NCOA7_uc003qah.3_Silent_p.I738I|NCOA7_uc003qak.3_Silent_p.I26I	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA.	749					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CATTTCAGATCATCACTGTTG	0.463000														12			4		0	0	0.00024832	0	0
ACSS3	79611	broad.mit.edu	37	12	81472039	81472039	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:81472039G>T	uc001szl.1	+	0	231	c.140G>T	c.(139-141)gGg>gTg	p.G47V	ACSS3_uc001szm.1_Missense_Mutation_p.G47V	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	47						mitochondrion	ATP binding|acetate-CoA ligase activity	p.L46F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGCGGTCTCGGGGGCCGGGGA	0.736000														3			5		3.59834e-05	0.000354	3.59834e-05	1	0
GHSR	2693	broad.mit.edu	37	3	172165570	172165570	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:172165570C>T	uc003fib.2	-	0	677	c.634G>A	c.(634-636)Gtc>Atc	p.V212I	GHSR_uc011bpv.2_Missense_Mutation_p.V212I	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	212					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CACACCATGACCGTGAGCAGT	0.622000														27			9		0	0	0.000673444	0	0
UBC	7316	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	G	G	rs149119138	by1000genomes	TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:21731144T>G	uc002gyy.3	+	1	571	c.446T>G	c.(445-447)cTg>cGg	p.L149R				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	301	Ubiquitin-like 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.L149R(18)|p.R148S(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTCCTGCGTCTGAGAGGTGGT	0.542000														57			4		0	0	0.00024832	0	0
DNAH11	8701	broad.mit.edu	37	7	21631164	21631164	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:21631164G>A	uc003svc.3	+	13	2667	c.2636G>A	c.(2635-2637)gGa>gAa	p.G879E		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	879	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTAATCCAAGGAGATGGCTGC	0.423000									Kartagener syndrome					57			19		0	0	0.000175454	0	0
WDR93	56964	broad.mit.edu	37	15	90276242	90276242	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:90276242C>T	uc002boj.3	+	12	1437	c.1336C>T	c.(1336-1338)Cct>Tct	p.P446S	WDR93_uc010bnr.3_Intron|WDR93_uc010upz.2_Missense_Mutation_p.P163S	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	446					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TCTAGGATTCCCTCTTGGGGT	0.512000														160			18		0	0	0.000958276	0	0
MRPL38	64978	broad.mit.edu	37	17	73898149	73898149	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:73898149C>T	uc010wso.1	-	2	559	c.334G>A	c.(334-336)Gag>Aag	p.E112K	FBF1_uc002jqa.1_Non-coding_Transcript|MRPL38_uc002jpz.1_Non-coding_Transcript	NM_032478	NP_115867	Q96DV4	RM38_HUMAN	Homo sapiens mitochondrial ribosomal protein L38 (MRPL38), nuclear gene encoding mitochondrial protein, mRNA.	112						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCCGAAGCTCCTGGATGGCC	0.597000														14			23		0	0	0.000720815	0	0
DST	667	broad.mit.edu	37	6	56422233	56422233	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:56422233G>A	uc003pcy.4	-	39	6763	c.6655C>T	c.(6655-6657)Cag>Tag	p.Q2219*		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	4631					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTACAGTCTGGAACTGGGTT	0.373000														26			6		0	0	3.59834e-05	0	0
DNAH7	56171	broad.mit.edu	37	2	196729046	196729046	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:196729046C>T	uc002utj.4	-	40	7434	c.7333G>A	c.(7333-7335)Gat>Aat	p.D2445N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2445	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2444L(1)		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						TTGGTTTTATCCCGCTGGCGA	0.453000														24			11		0	0	0.000151284	0	0
TSPYL6	388951	broad.mit.edu	37	2	54483133	54483133	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:54483133G>A	uc002rxr.2	-	0	277	c.156C>T	c.(154-156)ccC>ccT	p.P52P	ACYP2_uc002rxq.4_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	Homo sapiens TSPY-like 6 (TSPYL6), mRNA.	52					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CTGGAAGCCGGGGCGGTGGGA	0.607000														102			23		0	0	0.000878237	0	0
HIPK2	28996	broad.mit.edu	37	7	139416787	139416787	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:139416787G>A	uc003vvf.4	-	1	318	c.47C>T	c.(46-48)tCc>tTc	p.S16F	HIPK2_uc003vvd.4_Missense_Mutation_p.S16F	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	16					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGTGTGAGGGGAGAAAACTTG	0.463000														30			14		0	0	0.000422831	0	0
GBA3	57733	broad.mit.edu	37	4	22749269	22749269	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:22749269C>T	uc003gqp.4	+	2	728	c.637C>T	c.(637-639)Cga>Tga	p.R213*	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Nonsense_Mutation_p.R214*	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	213			R -> P (in dbSNP:rs17612341).		glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	p.R213*(2)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTCCTTATTTCGAAAAAAGCA	0.473000														71			6		0	0	3.59834e-05	0	0
SULT2A1	6822	broad.mit.edu	37	19	48378071	48378071	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:48378071C>T	uc002phr.2	-	4	728	c.588G>A	c.(586-588)gaG>gaA	p.E196E		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	196					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		GACAGATCTTCTCTATGGTTC	0.433000														74			17		0	0	0.000132079	0	0
NAP1L4	4676	broad.mit.edu	37	11	2979666	2979667	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:2979666_2979667GG>TT	uc010qxm.2	-	10	1138_1139	c.854_855CC>AA	c.(853-855)ccc>cAA	p.P285Q	NAP1L4_uc001lxc.3_Missense_Mutation_p.P285Q|NAP1L4_uc010qxn.2_Missense_Mutation_p.P285Q	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	285					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		AGGACTCATTGGGTACTTGTTT	0.342000														586			14		0	0	6.4e-05	0	0
SLC27A2	11001	broad.mit.edu	37	15	50519357	50519357	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:50519357G>A	uc001zxw.3	+	6	1671	c.1439G>A	c.(1438-1440)aGa>aAa	p.R480K	SLC27A2_uc010bes.3_Missense_Mutation_p.R427K|SLC27A2_uc001zxx.3_Missense_Mutation_p.R245K	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	480					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TTCCACGACAGAGTTGGAGAT	0.393000														59			6		0	0	8.12818e-05	0	0
AFF2	2334	broad.mit.edu	37	X	148039955	148039955	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:148039955C>A	uc004fcp.3	+	11	3136	c.2657C>A	c.(2656-2658)cCa>cAa	p.P886Q	AFF2_uc004fcq.3_Missense_Mutation_p.P876Q|AFF2_uc004fcr.3_Missense_Mutation_p.P847Q|AFF2_uc011mxb.2_Missense_Mutation_p.P851Q|AFF2_uc004fcs.3_Missense_Mutation_p.P853Q|AFF2_uc011mxc.2_Missense_Mutation_p.P527Q	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	886					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGCATCTCACCAGCCCCACCC	0.517000														44			10		1.33987e-11	1.33026e-10	0.000673444	1	0
PAPPA2	60676	broad.mit.edu	37	1	176734808	176734808	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:176734808C>T	uc001gkz.3	+	14	5322	c.4158C>T	c.(4156-4158)atC>atT	p.I1386I	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1386					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAGCTGTATCCATCGGCCCT	0.507000														46			38		0	0	0.000374591	0	0
FBLN2	2199	broad.mit.edu	37	3	13669404	13669404	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:13669404T>G	uc011avc.2	+	10	2886	c.2504T>G	c.(2503-2505)tTc>tGc	p.F835C	FBLN2_uc011auz.2_Missense_Mutation_p.F814C|FBLN2_uc011avb.2_Missense_Mutation_p.F788C|FBLN2_uc011ava.2_Missense_Mutation_p.F835C	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	834	EGF-like 5; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AAGGGCTCCTTCTACTGCCAG	0.642000														63			8		0	0	0.000157383	0	0
GRK4	2868	broad.mit.edu	37	4	3029658	3029658	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:3029658C>T	uc003ggn.1	+	10	1445	c.990C>T	c.(988-990)gaC>gaT	p.D330D	GRK4_uc003ggo.1_Silent_p.D330D|GRK4_uc003ggp.1_Silent_p.D298D|GRK4_uc003ggq.1_Silent_p.D298D	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	330	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGATTTCAGACCTCGGTTTGG	0.493000														111			11		0	0	0.000219431	0	0
RGS3	5998	broad.mit.edu	37	9	116269666	116269666	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:116269666G>A	uc004bhq.3	+	13	1394	c.1185G>A	c.(1183-1185)tcG>tcA	p.S395S	RGS3_uc004bhr.3_Silent_p.S283S|RGS3_uc004bhs.3_Silent_p.S285S|RGS3_uc004bht.3_Silent_p.S114S|RGS3_uc010muy.3_Silent_p.S114S|RGS3_uc004bhu.3_Silent_p.S21S	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	395					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTGCAAGTCGACACATGACC	0.647000														45			22		0	0	0.000375601	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28327101	28327101	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr21:28327101T>G	uc002ymg.3	-	1	1923	c.1194A>C	c.(1192-1194)gaA>gaC	p.E398D		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	398	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GGCCATCGTCTTCAATCACAG	0.517000														22			5		0	0	3.59834e-05	0	0
DSE	29940	broad.mit.edu	37	6	116720663	116720663	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:116720663G>A	uc011ebg.2	+	1	406	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	DSE_uc011ebf.1_Missense_Mutation_p.E84K|DSE_uc003pwq.1_Missense_Mutation_p.E84K|DSE_uc003pws.3_Missense_Mutation_p.E84K|DSE_uc003pwt.3_Missense_Mutation_p.E84K	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	84					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CAGCCCCTTGGAATACCTCCC	0.587000														27			9		0	0	0.000274275	0	0
FAM151A	338094	broad.mit.edu	37	1	55075104	55075104	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:55075104G>A	uc001cxn.3	-	7	1727	c.1595C>T	c.(1594-1596)tCc>tTc	p.S532F	ACOT11_uc001cxj.2_3'UTR|ACOT11_uc001cxl.2_3'UTR|ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	532						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGCCCGGGGGGAGGATGCCAG	0.647000														70			21		0	0	0.000229342	0	0
C1orf106	55765	broad.mit.edu	37	1	200877908	200877908	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:200877908C>T	uc001gvo.3	+	6	922	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	C1orf106_uc010ppm.2_Missense_Mutation_p.R209W	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	294	Pro-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCCACCTTCTCGGCCTCTCCC	0.612000														223			14		0	0	0.000566183	0	0
ESPNP	284729	broad.mit.edu	37	1	17029294	17029294	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:17029294G>A	uc001azn.1	-	5	1072	c.958C>T	c.(958-960)Cca>Tca	p.P320S						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		TTGGGAGATGGGTAGCTAggt	0.652000														47			6		0	0	8.12818e-05	0	0
SHANK2	22941	broad.mit.edu	37	11	70505998	70505998	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:70505998C>T	uc001oqc.3	-	13	1916	c.1804G>A	c.(1804-1806)Gag>Aag	p.E602K	SHANK2_uc010rqn.2_Missense_Mutation_p.E78K|SHANK2_uc001opz.3_Missense_Mutation_p.E78K|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.E78K	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	287					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCCACGGACTCCAGGTACTGT	0.557000														27			10		0	0	0.000151284	0	0
ROBO3	64221	broad.mit.edu	37	11	124740156	124740156	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:124740156C>T	uc001qbc.3	+	4	1031	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	288	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TCCCCCACCTCGTCTACGCTG	0.582000														23			12		0	0	0.000978159	0	0
CXorf21	80231	broad.mit.edu	37	X	30577915	30577915	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:30577915G>A	uc022bui.1	-	0	558	c.558C>T	c.(556-558)tcC>tcT	p.S186S	CXorf21_uc004dcg.2_Silent_p.S186S	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	186										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TTCTCCAATAGGATGAGTACC	0.443000														26			4		0	0	0.00024832	0	0
ADAM29	11086	broad.mit.edu	37	4	175896987	175896987	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:175896987G>A	uc003iuc.3	+	4	981	c.311G>A	c.(310-312)gGt>gAt	p.G104D	ADAM29_uc003iud.3_Missense_Mutation_p.G104D|ADAM29_uc010irr.3_Missense_Mutation_p.G104D|ADAM29_uc011cki.2_Missense_Mutation_p.G104D|ADAM29_uc021xuo.1_Missense_Mutation_p.G104D	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	104					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TACTATCATGGTTATGTGGAA	0.438000														12			4		0	0	0.000602214	0	0
ZNF786	136051	broad.mit.edu	37	7	148769496	148769496	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:148769496G>A	uc003wfh.2	-	3	505	c.368C>T	c.(367-369)tCc>tTc	p.S123F	ZNF786_uc011kuk.1_Missense_Mutation_p.S86F|ZNF786_uc003wfi.2_Missense_Mutation_p.S37F	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S122S(1)		breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGATCCAAAGGAACACTGGCT	0.507000														16			17		0	0	0.000566183	0	0
NCEH1	57552	broad.mit.edu	37	3	172351310	172351310	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:172351310G>A	uc011bpx.2	-	4	1440	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	NCEH1_uc003fig.3_Silent_p.I426I|NCEH1_uc011bpw.2_Silent_p.I261I|NCEH1_uc011bpy.2_Silent_p.I261I	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	394					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						TCCTAGTCCGGATTCCCACTG	0.502000														46			6		0	0	8.12818e-05	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29907155	29907155	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:29907155C>T	uc010vec.2	-	3	783	c.538G>A	c.(538-540)Ggc>Agc	p.G180S	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.G110S|SEZ6L2_uc002dur.4_Missense_Mutation_p.G110S|SEZ6L2_uc002duq.4_Missense_Mutation_p.G180S|SEZ6L2_uc010ved.2_Missense_Mutation_p.G136S|SEZ6L2_uc002dus.4_Intron	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	180	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane		p.E179K(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACCCTTCGCCCTCGGAGATG	0.567000														81			6		0	0	0.000157383	0	0
RPL7L1	285855	broad.mit.edu	37	6	42851233	42851233	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:42851233C>T	uc003osq.1	+	2	170	c.165C>T	c.(163-165)ttC>ttT	p.F55F	RPL7L1_uc011dux.1_Silent_p.F55F|RPL7L1_uc010jxw.1_5'UTR|RPL7L1_uc003osr.1_5'UTR|RPL7L1_uc011duy.1_Silent_p.F55F|RPL7L1_uc003ost.3_Silent_p.F55F|RPL7L1_uc003oss.2_5'UTR	NM_198486	NP_940888	Q6DKI1	RL7L_HUMAN	Homo sapiens ribosomal protein L7-like 1 (RPL7L1), mRNA.	55					translation	large ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			TGGAATCATTCCTACATGATT	0.448000														96			16		0	0	0.000422831	0	0
SAMD9	54809	broad.mit.edu	37	7	92730882	92730882	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:92730882G>A	uc003umf.3	-	2	4799	c.4529C>T	c.(4528-4530)tCc>tTc	p.S1510F	SAMD9_uc003umg.3_Missense_Mutation_p.S1510F|SAMD9_uc022ahg.1_Missense_Mutation_p.S1510F	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1510						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGCCACAAGGAATTAATATC	0.358000														29			7		0	0	8.12818e-05	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68250149	68250149	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:68250149G>A	uc001xka.2	-	20	3859	c.3720C>T	c.(3718-3720)tcC>tcT	p.S1240S	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Silent_p.S1240S	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1240					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGCTTTGCCGGGATGAGCAAA	0.592000														47			9		0	0	0.000274275	0	0
OSCP1	127700	broad.mit.edu	37	1	36887763	36887763	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:36887763G>A	uc001caq.3	-	6	923	c.807C>T	c.(805-807)gcC>gcT	p.A269A	OSCP1_uc021olk.1_Silent_p.A279A	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	Homo sapiens organic solute carrier partner 1 (OSCP1), transcript variant 1, mRNA.	279					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						GGGTCCATGAGGCTAAGTTCT	0.473000														80			14		0	0	0.000308642	0	0
ZP4	57829	broad.mit.edu	37	1	238050772	238050772	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:238050772A>C	uc001hym.3	-	4	930	c.643T>G	c.(643-645)Ttg>Gtg	p.L215V	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	215	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.R214L(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTAAGGGCCAAGCGCACAGAA	0.507000														123			15		0	0	0.000308642	0	0
COL6A3	1293	broad.mit.edu	37	2	238270405	238270405	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:238270405G>A	uc002vwl.2	-	14	6418	c.6133C>T	c.(6133-6135)Ccc>Tcc	p.P2045S	COL6A3_uc002vwo.2_Missense_Mutation_p.P1839S|COL6A3_uc010znj.1_Missense_Mutation_p.P1438S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2045	Collagen-like 1.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCCGATGGGCCCGCGGTCT	0.562000														127			18		0	0	0.000175454	0	0
C14orf43	91748	broad.mit.edu	37	14	74206073	74206074	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:74206073_74206074GG>AA	uc010tud.1	-	0	885_886	c.638_639CC>TT	c.(637-639)ccc>cTT	p.P213L	C14orf43_uc001xot.3_Missense_Mutation_p.P213L|C14orf43_uc001xou.3_Missense_Mutation_p.P213L|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	213	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		AGGGTTGCAGGGGCAGTGACTG	0.644000														88			11		0	0	6.4e-05	0	0
DPYSL4	10570	broad.mit.edu	37	10	134016294	134016294	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:134016294G>A	uc009ybb.3	+	11	1580	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N		NM_006426	NP_006417	O14531	DPYL4_HUMAN	Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA.	476					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		AACATTCCCGGACTTTGTCTA	0.622000														54			11		0	0	0.000978159	0	0
SLC28A1	9154	broad.mit.edu	37	15	85461754	85461754	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:85461754G>A	uc002blg.3	+	10	998	c.796_splice	c.e10-1	p.V266_splice	SLC28A1_uc010upd.1_Splice_Site_p.V188_splice|SLC28A1_uc010bnb.3_Splice_Site_p.V266_splice|SLC28A1_uc010upe.2_Splice_Site_p.V266_splice|SLC28A1_uc010upf.1_Splice_Site_p.V266_splice|SLC28A1_uc010upg.1_Splice_Site_p.V266_splice	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	266					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTTCCCGGCAGGTTCTGCCCA	0.592000														148			23		0	0	0.000720815	0	0
HCN2	610	broad.mit.edu	37	19	603747	603747	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:603747C>T	uc002lpe.3	+	1	889	c.836C>T	c.(835-837)cCc>cTc	p.P279L		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	279					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCTGGACCCCGAGAAGATC	0.537000														51			13		0	0	0.000308642	0	0
TMEM211	255349	broad.mit.edu	37	22	25331491	25331491	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr22:25331491C>T	uc003abk.1	-	2	224	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K		NM_001001663	NP_001001663	Q6ICI0	TM211_HUMAN	Homo sapiens transmembrane protein 211 (TMEM211), mRNA.	138						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GAGGAGGCTTCGCACACTTCC	0.532000														40			28		0	0	0.000279167	0	0
BEST3	144453	broad.mit.edu	37	12	70049108	70049108	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:70049108G>A	uc001svg.3	-	9	1813	c.1586C>T	c.(1585-1587)tCt>tTt	p.S529F	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.S316F|BEST3_uc010stm.2_Missense_Mutation_p.S423F	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	529						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TGTAAACTCAGAGCTCAAGAT	0.572000														48			13		0	0	0.00010058	0	0
BSND	7809	broad.mit.edu	37	1	55464879	55464880	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:55464879_55464880TC>GT	uc001cye.3	+	0	263_264	c.20_21TC>GT	c.(19-21)ttc>tGT	p.F7C		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	7						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		p.F7F(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GAGAAGACCTTCCGGATCGGCT	0.614000														92			38		0	0	6.4e-05	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227493	56227493	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:56227493G>A	uc002xyq.3	-	3	873	c.480C>T	c.(478-480)ccC>ccT	p.P160P	PMEPA1_uc002xyr.3_Silent_p.P110P|PMEPA1_uc002xys.3_Silent_p.P125P|PMEPA1_uc002xyt.3_Silent_p.P110P	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	160					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GGCCCTGGTAGGGTGGGGGCT	0.662000														44			5		0	0	0.000157383	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806489	97806489	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:97806489C>T	uc011bgs.2	+	0	473	c.473C>T	c.(472-474)cCt>cTt	p.P158L		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TTCCTGCATCCTCTGGTTCAT	0.353000														90			14		0	0	0.000308642	0	0
SLAMF6	114836	broad.mit.edu	37	1	160460440	160460440	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:160460440G>A	uc001fwe.2	-	3	752	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L	SLAMF6_uc010pji.2_Silent_p.L117L|SLAMF6_uc001fwd.2_Silent_p.L228L|SLAMF6_uc010pjh.2_Silent_p.L179L|SLAMF6_uc010pjj.2_Silent_p.L117L|SLAMF6_uc009wtm.2_3'UTR	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	228						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			ACCATAAACAGAATCATTTTG	0.368000														34			5		0	0	3.59834e-05	0	0
PDE6B	5158	broad.mit.edu	37	4	651250	651250	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:651250G>A	uc003gap.3	+	9	1421	c.1368G>A	c.(1366-1368)gtG>gtA	p.V456V	PDE6B_uc003gao.4_Silent_p.V456V|PDE6B_uc011buy.2_Silent_p.V177V|BC020343_uc003gaq.1_5'Flank	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	456					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TTTACCACGTGAAGTGCGACA	0.612000														66			8		0	0	0.000978159	0	0
MLXIPL	51085	broad.mit.edu	37	7	73010224	73010224	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:73010224C>T	uc003tyn.1	-	13	2182	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K	MLXIPL_uc003tyj.1_Missense_Mutation_p.E91K|MLXIPL_uc003tyk.1_Missense_Mutation_p.E691K|MLXIPL_uc003tym.1_Missense_Mutation_p.E693K|MLXIPL_uc003tyl.1_Missense_Mutation_p.E710K|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.E618K	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	712	Leucine-zipper.				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGGGCCTCCTCCTGCAAGCCC	0.627000														21			5		0	0	0.000602214	0	0
ADAM15	8751	broad.mit.edu	37	1	155026956	155026956	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:155026956C>T	uc001fgr.1	+	5	687	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Missense_Mutation_p.P180S|ADAM15_uc010peu.1_Missense_Mutation_p.P213S|ADAM15_uc001fgx.1_Missense_Mutation_p.P196S|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Missense_Mutation_p.P196S|ADAM15_uc001fgs.1_Missense_Mutation_p.P196S|ADAM15_uc010pev.1_Missense_Mutation_p.P206S|ADAM15_uc001fgu.1_Missense_Mutation_p.P196S|ADAM15_uc001fgv.1_Missense_Mutation_p.P196S|ADAM15_uc001fgw.1_Missense_Mutation_p.P196S	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	196					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ACCAGAGCACCCCCTGGGACA	0.587000														99			9		0	0	0.00010058	0	0
OR4D6	219983	broad.mit.edu	37	11	59224633	59224633	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:59224633C>T	uc010rku.2	+	0	200	c.200C>T	c.(199-201)tCa>tTa	p.S67L		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CGGAACAAATCAGTCCTGGAC	0.468000														30			19		0	0	0.00074312	0	0
DIS3L	115752	broad.mit.edu	37	15	66615079	66615079	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:66615079G>A	uc010ujm.2	+	9	1396	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K	DIS3L_uc010ujl.1_Missense_Mutation_p.E91K|DIS3L_uc002app.3_Missense_Mutation_p.E378K|DIS3L_uc002apq.2_Missense_Mutation_p.E461K|DIS3L_uc010bho.3_Missense_Mutation_p.E327K	NM_001143688	NP_588616	Q8TF46	DI3L1_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like (DIS3L), transcript variant 1, mRNA.	461					rRNA catabolic process	cytoplasm|exosome (RNase complex)	RNA binding|exonuclease activity|protein binding|ribonuclease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAGTCCTGAAGAGGAACAAAA	0.428000														43			6		0	0	8.12818e-05	0	0
TPO	7173	broad.mit.edu	37	2	1459887	1459887	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:1459887G>A	uc002qwr.3	+	6	738	c.652G>A	c.(652-654)Gag>Aag	p.E218K	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.E218K|TPO_uc002qwx.3_Missense_Mutation_p.E218K|TPO_uc002qwu.3_Missense_Mutation_p.E218K|TPO_uc010yio.2_Missense_Mutation_p.E218K|TPO_uc010yip.2_Missense_Mutation_p.E218K	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	218					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGTTTCAAATGAGGTTGTCAC	0.512000														21			8		0	0	0.000442599	0	0
MLXIPL	51085	broad.mit.edu	37	7	73021319	73021319	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:73021319G>A	uc003tyn.1	-	4	651	c.603C>T	c.(601-603)ctC>ctT	p.L201L	MLXIPL_uc003tyk.1_Silent_p.L201L|MLXIPL_uc003tym.1_Silent_p.L201L|MLXIPL_uc003tyl.1_Silent_p.L201L|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Intron|MLXIPL_uc003tyq.1_5'Flank	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	201					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TAGGGGCCAGGAGGTCATCTT	0.597000											OREG0018107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			6		0	0	8.12818e-05	0	0
ARSI	340075	broad.mit.edu	37	5	149677575	149677575	+	Silent	SNP	C	T	T	rs142802678		TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:149677575C>T	uc003lrv.2	-	1	1501	c.912G>A	c.(910-912)tcG>tcA	p.S304S		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	Homo sapiens arylsulfatase family, member I (ARSI), mRNA.	304						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTGCCCCCCGAGAAAGTCT	0.587000														34			12		0	0	0.00010058	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865866	6865866	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:6865866C>T	uc003gjr.4	+	6	4220	c.3757C>T	c.(3757-3759)Cct>Tct	p.P1253S	KIAA0232_uc003gjq.4_Missense_Mutation_p.P1253S	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	1253							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TTGTCAGTTTCCTGCTTATGA	0.378000														45			6		0	0	0.000157383	0	0
CD96	10225	broad.mit.edu	37	3	111325559	111325559	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:111325559C>T	uc003dxw.3	+	8	1318	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F	CD96_uc003dxv.3_Missense_Mutation_p.S367F|CD96_uc003dxx.3_Missense_Mutation_p.S367F|CD96_uc010hpy.1_Missense_Mutation_p.S367F	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	383	Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TCTGAAATTTCCTCAACAGAC	0.358000									Opitz Trigonocephaly syndrome					24			6		0	0	3.59834e-05	0	0
F10	2159	broad.mit.edu	37	13	113803660	113803660	+	Silent	SNP	C	T	T	rs139031355		TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:113803660C>T	uc001vsx.3	+	7	1353	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	F10_uc001vsy.3_3'UTR	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	432	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACCTACTTCGTGACAGGCA	0.622000														80			11		0	0	0.000673444	0	0
DLK2	65989	broad.mit.edu	37	6	43420853	43420853	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:43420853C>T	uc003ova.3	-	3	370	c.161G>A	c.(160-162)gGg>gAg	p.G54E	DLK2_uc003ovb.3_Missense_Mutation_p.G54E	NM_023932	NP_996262	Q6UY11	DLK2_HUMAN	Homo sapiens delta-like 2 homolog (Drosophila) (DLK2), transcript variant 1, mRNA.	54	EGF-like 1.					integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ACAGTGCAGCCCCTCCCAGCC	0.612000														21			4		0	0	0.00024832	0	0
EFNB3	1949	broad.mit.edu	37	17	7608943	7608943	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:7608943G>A	uc002gis.3	+	0	424	c.27G>A	c.(25-27)ggG>ggA	p.G9G		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	9					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CTGGGCCGGGGGGCGTGCGAG	0.711000														12			9		0	0	0.000442599	0	0
NCAN	1463	broad.mit.edu	37	19	19360700	19360700	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:19360700G>A	uc002nlz.3	+	14	4045	c.3946G>A	c.(3946-3948)Gac>Aac	p.D1316N	NCAN_uc002nma.3_Silent_p.R71R	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1316					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	p.D1316E(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTGGGAGAAGGACGAAGGGAA	0.537000														12			5		0	0	0.000602214	0	0
SLC38A4	55089	broad.mit.edu	37	12	47172358	47172358	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:47172358G>A	uc001rpi.2	-	10	1318	c.919C>T	c.(919-921)Cat>Tat	p.H307Y	SLC38A4_uc001rpj.2_Missense_Mutation_p.H307Y	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	307					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CCACTGTCATGAAGAGAGCCC	0.478000														7			4		0	0	3.59834e-05	0	0
TRHDE	29953	broad.mit.edu	37	12	73012805	73012805	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:73012805A>G	uc001sxa.3	+	12	2351	c.2321A>G	c.(2320-2322)tAc>tGc	p.Y774C		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	774					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATGGAAAACTACAACATTTTC	0.333000														12			6		0	0	8.12818e-05	0	0
HIBADH	11112	broad.mit.edu	37	7	27565985	27565986	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:27565985_27565986CC>AA	uc003szf.3	-	7	1071_1072	c.858_859GG>TT	c.(856-861)ctggga>ctTTga	p.G287*	HIBADH_uc003szg.3_Nonsense_Mutation_p.G238*	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	287					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	TGTGCCAATCCCAGATCCTAAA	0.460000														126			7		0	0	6.4e-05	0	0
XPO6	23214	broad.mit.edu	37	16	28117463	28117463	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:28117463G>A	uc002dpa.1	-	19	3186	c.2685C>T	c.(2683-2685)atC>atT	p.I895I	XPO6_uc002dpb.1_Silent_p.I881I|XPO6_uc010vcp.1_Silent_p.I895I	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	895					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CCACCTGCAGGATCTTCAGAA	0.592000														49			21		0	0	0.000229342	0	0
FAM47A	158724	broad.mit.edu	37	X	34148193	34148193	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:34148193C>T	uc004ddg.3	-	0	2255	c.2203G>A	c.(2203-2205)Gga>Aga	p.G735R		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	735										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCAATTGGTCCATAAAGATCG	0.428000														77			23		0	0	0.000586117	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421446	62421446	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:62421446C>G	uc002ygv.2	-	1	866	c.665G>C	c.(664-666)gGc>gCc	p.G222A	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					AGGCCCGTAGCCCACGTCTCC	0.587000														40			5		0	0	8.12818e-05	0	0
HAL	3034	broad.mit.edu	37	12	96387588	96387588	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:96387588C>T	uc001tem.1	-	6	810	c.513G>A	c.(511-513)ggG>ggA	p.G171G	HAL_uc010sux.1_Silent_p.G171G|HAL_uc009zti.1_Intron|HAL_uc010suw.1_Intron	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	171					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TGGCAAATTTCCCAAAACCTG	0.284000														42			5		0	0	0.000157383	0	0
OR6K6	128371	broad.mit.edu	37	1	158724725	158724725	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:158724725C>T	uc001fsw.1	+	0	120	c.120C>T	c.(118-120)ttC>ttT	p.F40F		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGACTGAGTTCCTCTTCTCTA	0.428000														86			11		0	0	0.000978159	0	0
NLRP2	55655	broad.mit.edu	37	19	55494629	55494629	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:55494629G>A	uc021vbq.1	+	5	1674	c.1563G>A	c.(1561-1563)gaG>gaA	p.E521E	NLRP2_uc010yfp.2_Silent_p.E498E|NLRP2_uc002qij.3_Silent_p.E521E|NLRP2_uc010esp.3_Silent_p.E499E|NLRP2_uc010esn.3_Silent_p.E497E|NLRP2_uc010eso.3_Silent_p.E518E	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	521	NACHT.|Poly-Glu.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAAGGAGGAGGAAGAGGATA	0.567000														77			12		0	0	0.000308642	0	0
COL15A1	1306	broad.mit.edu	37	9	101765859	101765859	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:101765859G>A	uc004azb.1	+	7	1396	c.1190G>A	c.(1189-1191)gGg>gAg	p.G397E		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	397	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCAGAGGAAGGGGTCACTCCA	0.607000														37			6		0	0	3.59834e-05	0	0
AP1G2	8906	broad.mit.edu	37	14	24036410	24036410	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:24036410G>A	uc001wkl.2	-	1	451	c.114C>T	c.(112-114)tcC>tcT	p.S38S	AP1G2_uc001wkk.3_Intron|AP1G2_uc001wkn.2_5'UTR|AX747770_uc001wko.1_Non-coding_Transcript|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Silent_p.S38S|AP1G2_uc010aks.3_5'UTR|AP1G2_uc010akt.3_5'UTR|AP1G2_uc010tnq.1_Non-coding_Transcript	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	38					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CGTCGCGGAAGGAGGCCCGGA	0.632000											OREG0022606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			8		0	0	0.000442599	0	0
CNTN5	53942	broad.mit.edu	37	11	99690287	99690287	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:99690287C>T	uc001pga.3	+	3	572	c.68C>T	c.(67-69)tCt>tTt	p.S23F	CNTN5_uc009ywv.2_Missense_Mutation_p.S23F|CNTN5_uc001pfz.3_Missense_Mutation_p.S23F|CNTN5_uc021qpb.1_Missense_Mutation_p.S23F|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	23			S -> A (in dbSNP:rs10790978).		cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TATTCAAAATCTCTTCCTGGT	0.323000														77			12		0	0	0.00010058	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373960	86373960	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:86373960G>A	uc010sum.2	-	5	775	c.616C>T	c.(616-618)Cta>Tta	p.L206L	MGAT4C_uc001tal.4_Silent_p.L182L|MGAT4C_uc001taj.4_Silent_p.L182L|MGAT4C_uc001tak.4_Silent_p.L182L|MGAT4C_uc001tai.4_Silent_p.L182L|MGAT4C_uc001tah.4_Silent_p.L182L	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	182					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGGCCATCTAGGATTGGGTAA	0.373000														16			6		0	0	3.59834e-05	0	0
HIVEP1	3096	broad.mit.edu	37	6	12163947	12163947	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:12163947C>T	uc003nac.3	+	8	7589	c.7410C>T	c.(7408-7410)ggC>ggT	p.G2470G	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2470					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTCCTATCGGCCAAATCCGCG	0.502000														41			7		0	0	8.12818e-05	0	0
C2orf55	343990	broad.mit.edu	37	2	99439605	99439605	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:99439605G>A	uc002szf.1	-	6	1425	c.1131C>T	c.(1129-1131)ccC>ccT	p.P377P		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	377	Pro-rich.									NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						ACGGGCCTGCGGGGGGCGCCT	0.751000														18			4		0	0	0.000602214	0	0
KRT16P2	400578	broad.mit.edu	37	17	16734769	16734769	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:16734769C>T	uc010vwr.1	-	2	806	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K						Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA.																		TTCAGGCCTTCCATCTGCATC	0.632000														50			7		0	0	0.000442599	0	0
POTEE	445582	broad.mit.edu	37	2	132021837	132021837	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:132021837G>A	uc002tsn.2	+	14	2861	c.2809G>A	c.(2809-2811)Gag>Aag	p.E937K	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.E537K|POTEE_uc002tsl.2_Missense_Mutation_p.E519K|POTEE_uc010fmy.1_Missense_Mutation_p.E401K	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	937	Actin-like.						ATP binding	p.E937K(1)									CTCCTCCCTAGAGAAGAGCTA	0.627000														179			36		0	0	0.00111076	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922825	17922825	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:17922825G>A	uc002nhl.1	+	2	1160	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q	B3GNT3_uc010ebd.1_Missense_Mutation_p.R338Q|B3GNT3_uc010ebe.1_Missense_Mutation_p.R338Q	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	338					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TGCTTCTACCGAGACCTGCTG	0.612000														116			29		0	0	0.000227799	0	0
NLRP3	114548	broad.mit.edu	37	1	247587448	247587448	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:247587448C>T	uc001icr.3	+	4	841	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L	NLRP3_uc001ics.3_Silent_p.L235L|NLRP3_uc001icu.3_Silent_p.L235L|NLRP3_uc001icw.3_Silent_p.L235L|NLRP3_uc001icv.3_Silent_p.L235L|NLRP3_uc010pyw.2_Silent_p.L233L|NLRP3_uc001ict.1_Silent_p.L233L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	235	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAAAACAATCCTGGCCAGGAA	0.532000														56			10		0	0	0.000442599	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984761	41984761	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:41984761C>T	uc003gwk.2	+	0	1049	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA.	318										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GTCCGCCTATCTGCCCCTGCA	0.552000														64			16		0	0	0.000566183	0	0
MUC16	94025	broad.mit.edu	37	19	9068756	9068756	+	Silent	SNP	T	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:9068756T>A	uc002mkp.3	-	2	18894	c.18690A>T	c.(18688-18690)acA>acT	p.T6230T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6232	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V6229V(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGTGAGGTTGTCACAAGGA	0.488000														51			8		0	0	0.000274275	0	0
DDX10	1662	broad.mit.edu	37	11	108562663	108562663	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:108562663C>T	uc001pkm.3	+	7	1101	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	DDX10_uc001pkl.1_Missense_Mutation_p.H346Y	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	346	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CCTTGCACTCCATGGTCGACA	0.468000			T	NUP98	AML*									28			14		0	0	0.000219431	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885041	12885041	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:12885041T>C	uc001auk.2	-	3	1266	c.1070A>G	c.(1069-1071)aAc>aGc	p.N357S		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	357										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCTCAGCAGGTTCTCCAGGGT	0.542000														125			78		0	0	0.000781405	0	0
PGC	5225	broad.mit.edu	37	6	41712205	41712205	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:41712205G>A	uc003ora.2	-	2	325	c.258C>T	c.(256-258)ttC>ttT	p.F86F	PGC_uc021yzm.1_Silent_p.F86F	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	86					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			AAAGGACCAGGAAGTTCTGGG	0.622000														68			16		0	0	0.000566183	0	0
MARCH1	55016	broad.mit.edu	37	4	164506904	164506904	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:164506904C>T	uc003iqs.2	-	5	602	c.420G>A	c.(418-420)cgG>cgA	p.R140R	MARCH1_uc003iqr.2_Silent_p.R123R	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	140					antigen processing and presentation of peptide antigen via MHC class II|immune response	Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R123R(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACTGTACCTTCCGGAGGGGTT	0.453000														38			7		0	0	0.000157383	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433836	72433836	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:72433836C>T	uc004ebi.3	-	0	875	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	165	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TATTCACATTCCTCTTCTGTA	0.378000														57			41		0	0	0.000680045	0	0
GRB10	2887	broad.mit.edu	37	7	50682476	50682476	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:50682476G>A	uc003tpi.2	-	8	1132	c.1086C>T	c.(1084-1086)ctC>ctT	p.L362L	GRB10_uc003tph.3_Silent_p.L304L|GRB10_uc003tpj.2_Silent_p.L316L|GRB10_uc003tpk.2_Silent_p.L362L|GRB10_uc010kzb.2_Silent_p.L304L|GRB10_uc003tpl.2_Silent_p.L356L|GRB10_uc003tpm.2_Silent_p.L304L	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	362	PH.				insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CCTTTATGCAGAGCCCGTGGT	0.582000									Russell-Silver syndrome					141			18		0	0	0.000229342	0	0
ZNF683	257101	broad.mit.edu	37	1	26691131	26691131	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:26691131G>A	uc001bmg.1	-	3	1024	c.906C>T	c.(904-906)tcC>tcT	p.S302S	ZNF683_uc001bmh.1_Silent_p.S302S|ZNF683_uc009vsj.1_Silent_p.S302S	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S302F(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TGCCTGTCTGGGAACTCAATG	0.587000														139			66		0	0	0.000781405	0	0
MAP3K15	389840	broad.mit.edu	37	X	19413209	19413209	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:19413209C>A	uc022btq.1	-	15	2184	c.2184G>T	c.(2182-2184)caG>caT	p.Q728H	MAP3K15_uc004czj.2_Missense_Mutation_p.Q163H|MAP3K15_uc004czk.2_Missense_Mutation_p.Q203H	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	728	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTCCAGGCACCTGCTCCATAA	0.463000														50			14		9.31168e-06	9.17744e-05	0.000151284	1	0
SPA17	53340	broad.mit.edu	37	11	124545172	124545172	+	Silent	SNP	A	G	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:124545172A>G	uc001qap.3	+	1	148	c.12A>G	c.(10-12)ccA>ccG	p.P4P	SIAE_uc001qan.3_5'Flank|SIAE_uc021qru.1_5'UTR|SIAE_uc001qao.2_5'Flank	NM_017425	NP_059121	Q15506	SP17_HUMAN	Homo sapiens sperm autoantigenic protein 17 (SPA17), mRNA.	4					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TGTCGATTCCATTCTCCAACA	0.398000														65			39		0	0	0.000509022	0	0
DSEL	92126	broad.mit.edu	37	18	65181271	65181271	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr18:65181271C>T	uc002lke.1	-	1	1829	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Missense_Mutation_p.R202Q	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	192						integral to membrane	isomerase activity|sulfotransferase activity	p.R202Q(2)|p.R202*(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTTTTGTCTTCGATGATTATC	0.398000														54			9		0	0	0.000673444	0	0
LY6H	4062	broad.mit.edu	37	8	144240439	144240439	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr8:144240439G>A	uc003yxt.3	-	1	829	c.82C>T	c.(82-84)Cca>Tca	p.P28S	LY6H_uc011lka.2_Intron|LY6H_uc011lkb.2_Intron|LY6H_uc011lkc.2_Intron			O94772	LY6H_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus H (LY6H), transcript variant 3, mRNA.	122	UPAR/Ly6.				nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGCACTCCTGGGAGAGCCCGA	0.711000														1			4		0	0	0.00024832	0	0
SDHAP1	255812	broad.mit.edu	37	3	195692311	195692311	+	Missense_Mutation	SNP	T	C	C	rs62282793	by1000genomes	TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:195692311T>C	uc003fvy.3	-	2	346	c.232A>G	c.(232-234)Agc>Ggc	p.S78G	SDHAP1_uc003fvx.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		TTCCCAGTGCTGACGTCCACA	0.607000														17			4		0	0	3.59834e-05	0	0
KCND2	3751	broad.mit.edu	37	7	119915143	119915143	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:119915143G>A	uc003vjj.1	+	0	1422	c.457G>A	c.(457-459)Gat>Aat	p.D153N		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	153					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.A152A(1)|p.A152S(1)|p.A152E(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGACGACGCGGATACCGACAC	0.632000														73			11		0	0	0.000978159	0	0
OR2C3	81472	broad.mit.edu	37	1	247695301	247695301	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:247695301C>T	uc021pmb.1	-	0	513	c.513G>A	c.(511-513)ggG>ggA	p.G171G	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.G171G	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGCAATTGTTCCCACACAGCG	0.562000														26			9		0	0	0.000442599	0	0
SMARCC1	6599	broad.mit.edu	37	3	47730890	47730890	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:47730890G>A	uc003crq.2	-	12	1368	c.1250C>T	c.(1249-1251)aCa>aTa	p.T417I	SMARCC1_uc011bbd.1_Missense_Mutation_p.T308I	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	417					chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCCTCCTGCTGTGACTGTTTC	0.398000														31			11		0	0	0.000151284	0	0
OTOGL	283310	broad.mit.edu	37	12	80750683	80750683	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:80750683C>T	uc001szd.3	+	47	5987	c.5981C>T	c.(5980-5982)tCc>tTc	p.S1994F	OTOGL_uc021rba.1_Missense_Mutation_p.S13F|OTOGL_uc009zsg.2_5'UTR	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGTTGTTTTTCCCCTTTTTGT	0.368000														11			5		0	0	0.000602214	0	0
MYO18B	84700	broad.mit.edu	37	22	26423473	26423473	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr22:26423473C>T	uc003abz.1	+	42	7783	c.7533C>T	c.(7531-7533)tcC>tcT	p.S2511S	MYO18B_uc003aca.1_Silent_p.S2392S|MYO18B_uc010guy.1_Silent_p.S2393S|MYO18B_uc010guz.1_Silent_p.S2391S|MYO18B_uc011aka.1_Silent_p.S1665S|MYO18B_uc011akb.1_Silent_p.S2024S|MYO18B_uc010gva.1_Silent_p.S494S|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2511	Poly-Ser.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGTCCTCATCCTCCGGCTCCA	0.577000														21			19		0	0	0.000175454	0	0
PDK2	5164	broad.mit.edu	37	17	48185985	48185985	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:48185985C>T	uc002iqc.3	+	8	1032	c.871C>T	c.(871-873)Cga>Tga	p.R291*	PDK2_uc002iqb.3_Nonsense_Mutation_p.R227*|PDK2_uc021tzx.1_Nonsense_Mutation_p.R227*	NM_002611	NP_001186828	Q15119	PDK2_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 2 (PDK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	291	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.R291R(2)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						GATGAGTGACCGAGGTGGGGG	0.592000									Autosomal Dominant Polycystic Kidney Disease					15			31		0	0	0.000409698	0	0
SHH	6469	broad.mit.edu	37	7	155599242	155599243	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:155599242_155599243CC>TT	uc003wmk.1	-	1	460_461	c.309_310GG>AA	c.(307-312)aaggac>aaAAac	p.D104N	SHH_uc003wmh.1_Non-coding_Transcript|SHH_uc003wmi.1_Missense_Mutation_p.D17N|SHH_uc003wmj.1_Missense_Mutation_p.D17N	NM_000193	NP_000184	Q15465	SHH_HUMAN	Homo sapiens sonic hedgehog (SHH), mRNA.	104					CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of T cell differentiation in thymus|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCAACTTGTCCTTACACCTCT	0.634000														52			11		0	0	6.4e-05	0	0
VWA2	340706	broad.mit.edu	37	10	116045915	116045915	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:116045915C>T	uc001lbl.1	+	10	1536	c.1215C>T	c.(1213-1215)gaC>gaT	p.D405D	VWA2_uc001lbk.1_Silent_p.D405D|VWA2_uc009xyf.1_Silent_p.D101D	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	405	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		ATGTGCCTGACCTGGTCTGGA	0.687000														72			20		0	0	0.000229342	0	0
TRIM38	10475	broad.mit.edu	37	6	25983438	25983438	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:25983438C>T	uc003nfm.3	+	7	1356	c.921C>T	c.(919-921)ctC>ctT	p.L307L	TRIM38_uc010jqd.3_5'UTR	NM_006355	NP_006346	O00635	TRI38_HUMAN	Homo sapiens tripartite motif containing 38 (TRIM38), mRNA.	307	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						AACTAATTCTCTCTGAGGATC	0.433000														34			10		0	0	0.00010058	0	0
HMCN1	83872	broad.mit.edu	37	1	185963949	185963949	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:185963949C>T	uc001grq.1	+	23	3737	c.3508C>T	c.(3508-3510)Cct>Tct	p.P1170S		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1170					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTTCTAGTTCCTCCAAAGAT	0.393000														11			5		0	0	0.000602214	0	0
CCDC108	255101	broad.mit.edu	37	2	219888059	219888059	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:219888059G>A	uc002vjl.1	-	15	2774	c.2690C>T	c.(2689-2691)tCc>tTc	p.S897F		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	897	MSP.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGCTGGTGGAGGAGCAGCC	0.632000														49			7		0	0	0.000157383	0	0
NALCN	259232	broad.mit.edu	37	13	101763483	101763483	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:101763483C>T	uc001vox.1	-	18	2476	c.2287G>A	c.(2287-2289)Gag>Aag	p.E763K		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	763						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TACCTGCGCTCTTGGCGGATA	0.547000														40			11		0	0	0.00010058	0	0
WBSCR17	64409	broad.mit.edu	37	7	70885919	70885919	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:70885919C>T	uc003tvy.3	+	4	790	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	264						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATCCCGCATCCAGGAAAACCG	0.537000														148			65		0	0	0.000781405	0	0
FGFBP1	9982	broad.mit.edu	37	4	15937835	15937835	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:15937835T>A	uc003gom.3	-	2	716	c.421A>T	c.(421-423)Aag>Tag	p.K141*	FGFBP1_uc021xml.1_Nonsense_Mutation_p.K141*	NM_005130	NP_005121	Q14512	FGFP1_HUMAN	Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA.	141					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						GGAAAATCCTTTCTGCACACT	0.468000														41			8		0	0	0.000274275	0	0
KL	9365	broad.mit.edu	37	13	33635042	33635042	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:33635042C>T	uc001uus.3	+	3	1834	c.1826C>T	c.(1825-1827)tCc>tTc	p.S609F	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	609	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.Q608H(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGTAACCAGTCCCAGGTGAAC	0.582000														76			8		0	0	0.000274275	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227583	56227583	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:56227583G>A	uc002xyq.3	-	3	783	c.390C>T	c.(388-390)ttC>ttT	p.F130F	PMEPA1_uc002xyr.3_Silent_p.F80F|PMEPA1_uc002xys.3_Silent_p.F95F|PMEPA1_uc002xyt.3_Silent_p.F80F	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	130					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GGAAGCGGTGGAAGCGCTCCC	0.711000														15			6		0	0	0.000157383	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485020	97485020	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:97485020G>A	uc001vmw.3	+	1	1008	c.984G>A	c.(982-984)atG>atA	p.M328I		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	328						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TGACTTTCATGAACGAGAGTG	0.502000														41			8		0	0	0.000978159	0	0
ATR	545	broad.mit.edu	37	3	142172027	142172027	+	Silent	SNP	T	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:142172027T>C	uc003eux.4	-	45	7826	c.7704A>G	c.(7702-7704)ccA>ccG	p.P2568P	ATR_uc003euy.1_Silent_p.P454P	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2568					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCCCTTTCACTGGTTTACTCC	0.368000								Other conserved DNA damage response genes						51			27		0	0	0.000409698	0	0
ADRA1D	146	broad.mit.edu	37	20	4202630	4202630	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:4202630T>C	uc002wkr.2	-	1	1314	c.1259A>G	c.(1258-1260)cAg>cGg	p.Q420R		NM_000678	NP_000669	P25100	ADA1D_HUMAN	Homo sapiens adrenergic, alpha-1D-, receptor (ADRA1D), mRNA.	420					DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	ACGACGGCACTGGCAGCGCAG	0.692000														7			3		0	0	6.4e-05	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779554	31779555	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:31779554_31779555GG>TT	uc003nxh.3	-	1	378_379	c.195_196CC>AA	c.(193-198)ccccag>ccAAag	p.Q66K	HSPA1L_uc010jte.3_Missense_Mutation_p.Q66K|HSPA1L_uc021yuz.1_Missense_Mutation_p.Q66K	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	66					response to unfolded protein		ATP binding	p.Q66Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACAGTGTTCTGGGGATTCATTG	0.495000														520			15		0	0	6.4e-05	0	0
IGSF9B	22997	broad.mit.edu	37	11	133791039	133791039	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:133791039C>T	uc001qgx.4	-	17	2812	c.2581G>A	c.(2581-2583)Gac>Aac	p.D861N		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	861						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCGGCAGGGTCCATCACGAAG	0.657000														46			25		0	0	0.000878237	0	0
GPR123	84435	broad.mit.edu	37	10	134898381	134898381	+	Silent	SNP	C	T	T	rs140828209	by1000genomes	TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:134898381C>T	uc001llw.3	+	7	1443	c.1443C>T	c.(1441-1443)atC>atT	p.I481I				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	230						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AGGAAGGAATCGCACCTGGGG	0.622000														23			5		0	0	0.000602214	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003881	34003881	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr21:34003881C>T	uc002yqh.2	-	31	4263	c.4263G>A	c.(4261-4263)cgG>cgA	p.R1421R	SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Silent_p.R1335R|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.4_Silent_p.R7R	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	1382	Pro-rich.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGGATTGACTCCGAGCTGGAA	0.468000														21			5		0	0	0.000602214	0	0
SLC4A10	57282	broad.mit.edu	37	2	162834230	162834230	+	Splice_Site	SNP	A	G	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:162834230A>G	uc002ubx.4	+	26	3529	c.3345_splice	c.e26-2	p.S1115_splice	SLC4A10_uc010zcs.2_Splice_Site_p.S1096_splice|SLC4A10_uc002uby.4_Splice_Site_p.S1085_splice	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	1115					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTTTGTCATAAGCTCCCCTTC	0.333000														63			11		0	0	0.00010058	0	0
PDHA2	5161	broad.mit.edu	37	4	96762141	96762141	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:96762141G>A	uc003htr.4	+	0	903	c.840G>A	c.(838-840)atG>atA	p.M280I		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	280			M -> L (in dbSNP:rs2229137).		glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCATACTGATGGAGCTGCAAA	0.458000														34			8		0	0	0.000157383	0	0
KCNN2	3781	broad.mit.edu	37	5	113740249	113740249	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:113740249T>C	uc003kqo.3	+	2	1154	c.697T>C	c.(697-699)Tat>Cat	p.Y233H		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	233						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		ACCTGGGAATTATACATTCAC	0.438000														33			7		0	0	0.000673444	0	0
PTPRF	5792	broad.mit.edu	37	1	44085235	44085235	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:44085235C>T	uc001cjr.3	+	27	5263	c.4923C>T	c.(4921-4923)ctC>ctT	p.L1641L	PTPRF_uc001cjs.3_Silent_p.L1632L|PTPRF_uc001cju.3_Silent_p.L1030L|PTPRF_uc009vwt.3_Silent_p.L1201L|PTPRF_uc001cjv.3_Silent_p.L1112L|PTPRF_uc001cjw.3_Silent_p.L867L	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1641	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCATGGAGCTCGAGTTCAAGG	0.652000														49			15		0	0	0.000229342	0	0
HABP2	3026	broad.mit.edu	37	10	115335690	115335690	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:115335690G>A	uc001lai.4	+	3	361	c.258G>A	c.(256-258)ggG>ggA	p.G86G	HABP2_uc021pyr.1_Silent_p.G60G|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Missense_Mutation_p.G75E	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	86	EGF-like 1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AACACGGTGGGGACTGCCTCG	0.547000														88			21		0	0	0.000295444	0	0
ADAM29	11086	broad.mit.edu	37	4	175898651	175898651	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:175898651G>A	uc003iuc.3	+	4	2645	c.1975G>A	c.(1975-1977)Gga>Aga	p.G659R	ADAM29_uc003iud.3_Missense_Mutation_p.G659R|ADAM29_uc010irr.3_Missense_Mutation_p.G659R|ADAM29_uc011cki.2_Missense_Mutation_p.G659R|ADAM29_uc021xuo.1_Missense_Mutation_p.G659R	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	659					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAAAGGCTATGGAGGTAGTGT	0.403000														10			4		0	0	0.000602214	0	0
CLEC4C	170482	broad.mit.edu	37	12	7894077	7894077	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:7894077G>A	uc001qtg.1	-	2	349	c.175C>T	c.(175-177)Cga>Tga	p.R59*	CLEC4C_uc001qth.1_Nonsense_Mutation_p.R59*|CLEC4C_uc001qti.1_Nonsense_Mutation_p.R28*	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	59					innate immune response	integral to membrane	sugar binding	p.R59*(4)|p.R59L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TGATACTCTCGTAACTTGGAC	0.423000														149			37		0	0	0.000589545	0	0
XKR4	114786	broad.mit.edu	37	8	56435900	56435900	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr8:56435900C>T	uc003xsf.3	+	2	1099	c.1067C>T	c.(1066-1068)gCc>gTc	p.A356V		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	356						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TACCAGAAGGCCCTCCGGGAC	0.572000														21			6		0	0	3.59834e-05	0	0
MUC2	4583	broad.mit.edu	37	11	1095748	1095748	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:1095748G>A	uc001lsx.1	+	34	6274	c.6247G>A	c.(6247-6249)Gag>Aag	p.E2083K		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4449						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGTGGAGTGTGAGCCGCCGCC	0.652000														7			5		0	0	3.59834e-05	0	0
POLD1	5424	broad.mit.edu	37	19	50906833	50906833	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:50906833C>T	uc010eny.3	+	8	1222	c.1221C>T	c.(1219-1221)atC>atT	p.I407I	POLD1_uc002psb.4_Silent_p.I407I|POLD1_uc002psc.4_Silent_p.I407I|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	407					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGTACCTCATCTCTCGGGCCC	0.637000								DNA polymerases (catalytic subunits)						71			30		0	0	0.000409698	0	0
LMX1A	4009	broad.mit.edu	37	1	165183036	165183036	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:165183036C>T	uc001gcz.2	-	4	705	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	LMX1A_uc021pdz.1_Missense_Mutation_p.E171K|LMX1A_uc021pdy.1_5'Flank|LMX1A_uc001gcw.2_5'Flank	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	171						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AGACTTTCTTCATCATCACTT	0.498000														125			7		0	0	0.000157383	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415711	105415711	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:105415711G>A	uc010axc.1	-	6	6197	c.6077C>T	c.(6076-6078)tCc>tTc	p.S2026F	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S1926F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2026						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCTGCATGGAGGGGAGACT	0.642000														164			38		0	0	0.000814825	0	0
MYF5	4617	broad.mit.edu	37	12	81112667	81112667	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:81112667C>T	uc001szg.2	+	2	740	c.605C>T	c.(604-606)tCc>tTc	p.S202F		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	202					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AACTCCTTATCCAGCTTGGAT	0.438000														67			33		0	0	0.00111076	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	95472	95472	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrGL000209.1:95472G>A	uc002quk.1	+	8	914	c.859_splice	c.e8-1	p.D287_splice	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_5'Flank	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	287							receptor activity										CCTCTCTCCAGGACTCTGATG	0.498000														85			29		0	0	0.000491102	0	0
ZFP82	284406	broad.mit.edu	37	19	36884606	36884606	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:36884606G>A	uc002ody.1	-	4	871	c.636C>T	c.(634-636)caC>caT	p.H212H		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H212R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTCGAGTAAGGTGTGCAGTCT	0.423000														64			12		0	0	0.000978159	0	0
DCAF11	80344	broad.mit.edu	37	14	24588419	24588419	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:24588419G>C	uc001wlv.3	+	8	1125	c.845G>C	c.(844-846)gGa>gCa	p.G282A	DCAF11_uc001wlw.3_Missense_Mutation_p.G282A|DCAF11_uc001wlz.3_Missense_Mutation_p.G182A|DCAF11_uc001wly.3_Missense_Mutation_p.G238A|DCAF11_uc010tny.2_Missense_Mutation_p.G149A|DCAF11_uc001wmc.3_Missense_Mutation_p.G182A|DCAF11_uc001wmb.4_Missense_Mutation_p.G256A|DCAF11_uc001wma.4_Missense_Mutation_p.G282A	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	282						CUL4 RING ubiquitin ligase complex	protein binding										GAAGTACTAGGAGGGTAAGTG	0.507000														126			24		0	0	0.000586117	0	0
AFF2	2334	broad.mit.edu	37	X	148044319	148044319	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:148044319A>C	uc004fcp.3	+	12	3244	c.2765A>C	c.(2764-2766)gAg>gCg	p.E922A	AFF2_uc004fcq.3_Missense_Mutation_p.E912A|AFF2_uc004fcr.3_Missense_Mutation_p.E883A|AFF2_uc011mxb.2_Missense_Mutation_p.E887A|AFF2_uc004fcs.3_Missense_Mutation_p.E889A|AFF2_uc011mxc.2_Missense_Mutation_p.E563A	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	922					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCACTGCCAGAGGACCCTCCA	0.443000														6			6		0	0	0.000274275	0	0
WDR86	349136	broad.mit.edu	37	7	151082316	151082316	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:151082316G>A	uc011kvk.1	-	3	1233	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F	WDR86_uc003wka.2_Intron|WDR86_uc003wkb.2_Intron|WDR86_uc003wkc.2_Intron			Q86TI4	WDR86_HUMAN	Homo sapiens WD repeat domain 86 (WDR86), mRNA.	262										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGCTGCGAGGAGGAGCAGG	0.642000														47			10		0	0	0.000151284	0	0
STRA6	64220	broad.mit.edu	37	15	74472546	74472546	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:74472546C>T	uc002axj.3	-	18	2356	c.1996G>A	c.(1996-1998)Gga>Aga	p.G666R	STRA6_uc002axi.3_Missense_Mutation_p.G436R|STRA6_uc010ulh.2_Missense_Mutation_p.G665R|STRA6_uc002axk.3_Missense_Mutation_p.G627R|STRA6_uc002axl.3_Missense_Mutation_p.G559R|STRA6_uc010bji.3_Missense_Mutation_p.G627R|STRA6_uc021sqg.1_Missense_Mutation_p.G642R|STRA6_uc002axm.3_Missense_Mutation_p.G627R|STRA6_uc002axn.3_Missense_Mutation_p.G618R|STRA6_uc010uli.2_Missense_Mutation_p.G664R	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	627					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GGCCTAGCTCCCTTGGCCATG	0.637000														167			29		0	0	0.000814825	0	0
ZNF677	342926	broad.mit.edu	37	19	53740999	53740999	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:53740999G>A	uc002qbg.1	-	4	1132	c.981C>T	c.(979-981)gtC>gtT	p.V327V	ZNF677_uc002qbf.1_Silent_p.V327V	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TTTGACTACAGACCTTGCCAC	0.413000														31			5		0	0	0.000602214	0	0
SYT13	57586	broad.mit.edu	37	11	45267949	45267949	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:45267949C>T	uc001myq.2	-	4	1087	c.961G>A	c.(961-963)Gag>Aag	p.E321K	SYT13_uc009yku.1_Missense_Mutation_p.E177K	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	321	C2 2.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CCCAGGAGCTCCTTGGACTGG	0.592000														22			16		0	0	0.000566183	0	0
KLHL1	57626	broad.mit.edu	37	13	70371056	70371056	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:70371056G>A	uc001vip.3	-	6	2247	c.1453C>T	c.(1453-1455)Ctg>Ttg	p.L485L	KLHL1_uc010thm.2_Silent_p.L424L	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	485					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.L485L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGGATCCACAGATTTGTTCTC	0.388000														58			10		0	0	0.00010058	0	0
LRRC8A	56262	broad.mit.edu	37	9	131670604	131670604	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:131670604C>T	uc004bwl.4	+	2	1415	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	LRRC8A_uc010myp.3_Silent_p.S387S|LRRC8A_uc010myq.3_Silent_p.S387S	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	387					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CGCTCTACTCCAAGCGCTTCG	0.587000														48			27		0	0	0.000491102	0	0
KLC4	89953	broad.mit.edu	37	6	43030861	43030861	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:43030861G>A	uc003otw.1	+	2	838	c.519G>A	c.(517-519)caG>caA	p.Q173Q	KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otu.3_Silent_p.Q155Q|KLC4_uc003otv.1_Silent_p.Q155Q|KLC4_uc011dvd.1_Intron|KLC4_uc003otx.1_Silent_p.Q155Q|KLC4_uc003oty.1_Silent_p.Q155Q|KLC4_uc003otz.1_Silent_p.Q155Q	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	155						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			AGCTGCGGCAGTATGATGAGG	0.617000														38			5		0	0	8.12818e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					19			15		0	0	0.000422831	0	0
MYH8	4626	broad.mit.edu	37	17	10299683	10299683	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:10299683C>T	uc002gmm.2	-	32	4712	c.4617G>A	c.(4615-4617)gaG>gaA	p.E1539E	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1539					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTCACATTTCTCTTGTTCTA	0.373000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					33			8		0	0	0.000442599	0	0
NOS1	4842	broad.mit.edu	37	12	117768790	117768790	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:117768790C>T	uc001twn.2	-	1	796	c.85G>A	c.(85-87)Gga>Aga	p.G29R	NOS1_uc001twm.2_Missense_Mutation_p.G29R	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	29	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ACCAGAAATCCCAGGCCCCCA	0.562000														63			8		0	0	0.000157383	0	0
OR13C4	138804	broad.mit.edu	37	9	107289083	107289083	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:107289083C>T	uc011lvn.2	-	0	408	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CCACCTTGTTCATGATGATGG	0.458000														19			12		0	0	0.00010058	0	0
COL22A1	169044	broad.mit.edu	37	8	139734322	139734322	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr8:139734322C>T	uc003yvd.3	-	25	2705	c.2258G>A	c.(2257-2259)gGa>gAa	p.G753E	COL22A1_uc011ljo.2_Missense_Mutation_p.G53E	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	753	Collagen-like 5.|Gly-rich.|Pro-rich.			GKDGPNGPPGPPGTK -> CILAAKTAPGLKQLN (in Ref. 2; AAH42075).	cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCGTCCTTTCCAGGGGGTCC	0.478000										HNSCC(7;0.00092)				9			3		0	0	0.00024832	0	0
LDB2	9079	broad.mit.edu	37	4	16510260	16510260	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:16510260G>A	uc003goz.3	-	6	1105	c.789C>T	c.(787-789)tcC>tcT	p.S263S	LDB2_uc003gpa.3_Silent_p.S263S|LDB2_uc011bxh.2_Silent_p.S235S|LDB2_uc003gpb.3_Silent_p.S263S|LDB2_uc010iee.3_Silent_p.S263S|LDB2_uc011bxi.2_Silent_p.S139S	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	263							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TGCTGCTGGTGGAATTTTTCC	0.493000														16			6		0	0	3.59834e-05	0	0
ZNF560	147741	broad.mit.edu	37	19	9578369	9578369	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:9578369G>A	uc002mlp.1	-	9	1464	c.1254C>T	c.(1252-1254)ggC>ggT	p.G418G	ZNF560_uc010dwr.1_Silent_p.G312G	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTTCAATAAGGCCTGCAGATG	0.433000														9			5		0	0	0.000602214	0	0
PTPRD	5789	broad.mit.edu	37	9	8504363	8504363	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:8504363C>T	uc003zkk.3	-	22	2463	c.1720G>A	c.(1720-1722)Gga>Aga	p.G574R	PTPRD_uc003zkp.3_Missense_Mutation_p.G574R|PTPRD_uc003zkq.3_Missense_Mutation_p.G574R|PTPRD_uc003zkr.3_Missense_Mutation_p.G568R|PTPRD_uc003zks.3_Missense_Mutation_p.G564R|PTPRD_uc022bdj.1_Missense_Mutation_p.G571R	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	574	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G574*(5)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTTTCAGTCCTTGCAGCCTA	0.443000										TSP Lung(15;0.13)				50			9		0	0	0.000151284	0	0
CCDC135	84229	broad.mit.edu	37	16	57764843	57764843	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:57764843G>A	uc002emi.3	+	17	2481	c.2392_splice	c.e17-1	p.E798_splice	CCDC135_uc002emj.3_Splice_Site_p.E798_splice|CCDC135_uc002emk.3_Splice_Site_p.E733_splice	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	798						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ATGACCACAGGAGACCCAGGA	0.572000														47			4		0	0	0.000602214	0	0
PRKAB2	5565	broad.mit.edu	37	1	146639510	146639510	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:146639510G>A	uc001epe.3	-	2	304	c.159C>T	c.(157-159)ctC>ctT	p.L53L	PRKAB2_uc010ozm.2_Intron|PRKAB2_uc010ozn.2_Intron|PRKAB2_uc009wjf.1_Silent_p.L53L	NM_005399	NP_005390	O43741	AAKB2_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 2 non-catalytic subunit (PRKAB2), mRNA.	53					carnitine shuttle|cell cycle arrest|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				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	TGTCCCCAGGGAGCTGTAAGA	0.512000														134			35		0	0	0.000692331	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028023	45028023	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:45028023C>T	uc010ejn.1	-	2	484	c.468G>A	c.(466-468)gtG>gtA	p.V156V	CEACAM20_uc010ejo.1_Silent_p.V156V|CEACAM20_uc010ejp.1_Silent_p.V156V|CEACAM20_uc010ejq.1_Silent_p.V156V	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	156						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				ACTCACACTTCACATCCAGGA	0.527000														189			25		0	0	0.000586117	0	0
CPA1	1357	broad.mit.edu	37	7	130027801	130027801	+	Silent	SNP	G	C	C	rs113061008	byFrequency	TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:130027801G>C	uc003vpx.3	+	9	1281	c.1209G>C	c.(1207-1209)acG>acC	p.T403T		NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	403					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CCAAGGAGACGTGGCTGGCGC	0.607000														166			33		0	0	0.000491102	0	0
COL6A3	1293	broad.mit.edu	37	2	238285803	238285803	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:238285803C>T	uc002vwl.2	-	6	2967	c.2682G>A	c.(2680-2682)caG>caA	p.Q894Q	COL6A3_uc002vwo.2_Silent_p.Q688Q|COL6A3_uc010znj.1_Silent_p.Q287Q|COL6A3_uc002vwq.3_Silent_p.Q688Q|COL6A3_uc002vwr.3_Silent_p.Q487Q|COL6A3_uc010znk.1_Silent_p.Q694Q	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	894	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAGGCTTACTCTGGTGCTCAT	0.507000														98			31		0	0	0.000339439	0	0
ZNF530	348327	broad.mit.edu	37	19	58117970	58117970	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:58117970C>T	uc002qpk.2	+	2	1297	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_Intron	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGGAAAATCCTTTAGCCATA	0.448000														59			9		0	0	0.000673444	0	0
INHBB	3625	broad.mit.edu	37	2	121106796	121106796	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:121106796G>A	uc002tmn.2	+	1	616	c.570G>A	c.(568-570)gaG>gaA	p.E190E		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	190					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				ACGTCCTGGAGAAGGGCAGCC	0.582000														85			18		0	0	0.00074312	0	0
CDC7	8317	broad.mit.edu	37	1	91985787	91985787	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:91985787T>G	uc001doe.3	+	10	1446	c.1281T>G	c.(1279-1281)atT>atG	p.I427M	CDC7_uc001dof.3_Missense_Mutation_p.I427M|CDC7_uc010osw.2_Missense_Mutation_p.I399M|CDC7_uc009wdc.3_Missense_Mutation_p.I427M|CDC7_uc009wdd.3_Intron	NM_003503	NP_003494	O00311	CDC7_HUMAN	Homo sapiens cell division cycle 7 homolog (S. cerevisiae) (CDC7), transcript variant 1, mRNA.	427	Protein kinase.				DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint|cell division|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		TGGCCCAAATTATGACAATTA	0.358000														19			5		0	0	0.000602214	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022462	161022462	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:161022462G>A	uc001fxl.3	-	6	1136	c.790C>T	c.(790-792)Cca>Tca	p.P264S	ARHGAP30_uc001fxk.3_Missense_Mutation_p.P264S|ARHGAP30_uc001fxm.3_Missense_Mutation_p.P110S|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.P110S	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	264					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CGCATCTGTGGGGGTCCATCG	0.602000														49			19		0	0	0.00074312	0	0
FAM65C	140876	broad.mit.edu	37	20	49225065	49225065	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:49225065C>T	uc010zyt.2	-	10	1068	c.817G>A	c.(817-819)Gag>Aag	p.E273K	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.E269K|FAM65C_uc002xvn.1_Missense_Mutation_p.E269K	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	269										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCCGCAACTCCGTCACCTGG	0.682000														105			15		0	0	0.000422831	0	0
OSMR	9180	broad.mit.edu	37	5	38924659	38924659	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:38924659G>A	uc003jln.2	+	13	2408	c.2006G>A	c.(2005-2007)aGg>aAg	p.R669K	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	669	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TCCAAGGCGAGGCAGTGCCAC	0.368000														40			10		0	0	0.000673444	0	0
SLFN13	146857	broad.mit.edu	37	17	33772553	33772553	+	Silent	SNP	G	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:33772553G>C	uc002hjk.1	-	0	477	c.147C>G	c.(145-147)gcC>gcG	p.A49A	SLFN13_uc010wch.1_Silent_p.A49A|SLFN13_uc002hjl.2_Silent_p.A49A|SLFN13_uc002hjm.2_5'UTR|SLFN13_uc010ctt.2_Intron	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	49						intracellular	ATP binding	p.R48L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAGCACACGCGGCCCGTATAA	0.483000														90			19		0	0	0.000132079	0	0
DNAH17	8632	broad.mit.edu	37	17	76471509	76471509	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:76471509G>A	uc010dhp.2	-	53	8487	c.8362C>T	c.(8362-8364)Cgc>Tgc	p.R2788C	DNAH17_uc002jvs.3_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCAGGATGCGATTAATCCTG	0.602000														49			57		0	0	0.000781405	0	0
HOXB6	3216	broad.mit.edu	37	17	46673918	46673918	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:46673918C>T	uc002ins.1	-	3	857	c.532G>A	c.(532-534)Gag>Aag	p.E178K	HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB5_uc002inr.3_5'Flank|HOXB-AS3_uc021tzi.1_Intron|HOXB-AS3_uc021tzj.1_Intron|HOXB6_uc010dbh.1_Missense_Mutation_p.E178K|HOXB6_uc002int.1_3'UTR|HOXB-AS3_uc021tzk.1_Intron	NM_018952	NP_061825	P17509	HXB6_HUMAN	Homo sapiens homeobox B6 (HOXB6), mRNA.	178					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						TGCGCGATCTCGATGCGCCGC	0.602000														235			16		0	0	0.000132079	0	0
TMEM26	219623	broad.mit.edu	37	10	63170422	63170422	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:63170422C>T	uc001jlo.2	-	5	1134	c.765G>A	c.(763-765)tgG>tgA	p.W255*	TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	255						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					TTCCGATGTTCCACAGATCGG	0.483000														15			5		0	0	3.59834e-05	0	0
ABCA5	23461	broad.mit.edu	37	17	67302982	67302982	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:67302982G>A	uc002jif.2	-	4	1890	c.672C>T	c.(670-672)taC>taT	p.Y224Y	ABCA5_uc002jig.2_Silent_p.Y224Y|ABCA5_uc002jih.2_Silent_p.Y224Y|ABCA5_uc010dfe.2_Silent_p.Y224Y	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	224					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CTATAACTAGGTATATTAAAA	0.323000														13			11		0	0	0.00010058	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519565	113519565	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:113519565C>T	uc010ljy.1	-	3	1613	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	528					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTTGTTTTTCATTAACACCT	0.348000														7			5		0	0	3.59834e-05	0	0
COL5A1	1289	broad.mit.edu	37	9	137623968	137623968	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:137623968G>A	uc004cfe.3	+	8	1766	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	462	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.E462K(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCGATTATCGAGCCGGTGAG	0.582000														66			18		0	0	0.00074312	0	0
ZEB1	6935	broad.mit.edu	37	10	31799743	31799743	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:31799743C>T	uc001ivs.4	+	4	687	c.624C>T	c.(622-624)acC>acT	p.T208T	ZEB1_uc001ivr.4_5'UTR|ZEB1_uc010qef.2_5'UTR|ZEB1_uc009xlh.1_Non-coding_Transcript|ZEB1_uc009xli.1_Non-coding_Transcript|ZEB1_uc009xlj.1_Silent_p.T134T|ZEB1_uc010qeg.1_Silent_p.T67T|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivu.4_Silent_p.T209T|ZEB1_uc010qeh.2_Silent_p.T141T|ZEB1_uc001ivv.4_Silent_p.T188T|ZEB1_uc001ivt.4_5'UTR|ZEB1_uc009xll.2_Non-coding_Transcript|ZEB1_uc009xlm.1_Non-coding_Transcript|ZEB1_uc009xln.1_Non-coding_Transcript|ZEB1_uc009xlo.2_Silent_p.T191T|ZEB1_uc009xlp.3_Silent_p.T192T	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	208					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GCAGTTACACCTTTGCATACA	0.378000														19			4		0	0	0.00024832	0	0
SCN3A	6328	broad.mit.edu	37	2	165947405	165947405	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:165947405C>T	uc002ucx.3	-	27	5750	c.5258G>A	c.(5257-5259)aGt>aAt	p.S1753N	SCN3A_uc010zcy.2_Missense_Mutation_p.S236N|SCN3A_uc002ucy.3_Missense_Mutation_p.S1704N|SCN3A_uc002ucz.3_Missense_Mutation_p.S1704N	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1753						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GATGATGTAACTGACAAAAAA	0.483000														10			16		0	0	0.000422831	0	0
TYMS	7298	broad.mit.edu	37	18	672884	672885	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr18:672884_672885CC>GT	uc010dka.1	+	6	968_969	c.829_830CC>GT	c.(829-831)cca>GTa	p.P277V	TYMS_uc010dkb.1_Missense_Mutation_p.P243V|TYMS_uc010dkc.1_Missense_Mutation_p.P194V|ENOSF1_uc010dkf.3_3'UTR|ENOSF1_uc002kku.4_3'UTR|ENOSF1_uc002kkt.4_3'UTR|ENOSF1_uc010dke.3_Non-coding_Transcript|ENOSF1_uc002kkw.4_3'UTR	NM_001071	NP_001062	P04818	TYSY_HUMAN	Homo sapiens thymidylate synthetase (TYMS), mRNA.	277					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	CAGACCTTTCCCAAAGCTCAGG	0.386000														88			10		0	0	6.4e-05	0	0
MYLK4	340156	broad.mit.edu	37	6	2671570	2671570	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:2671570G>A	uc003mty.4	-	11	1429	c.1132C>T	c.(1132-1134)Cgt>Tgt	p.R378C	MYLK4_uc003mtx.4_Missense_Mutation_p.R93C	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.	378							ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCAGAGCCACGATTCTTCTTC	0.473000														42			12		0	0	0.000422831	0	0
SPRY2	10253	broad.mit.edu	37	13	80911809	80911809	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:80911809G>A	uc001vli.3	-	1	1010	c.32C>T	c.(31-33)tCg>tTg	p.S11L	SPRY2_uc001vlj.3_Missense_Mutation_p.S11L|SPRY2_uc021rkz.1_Missense_Mutation_p.S11L	NM_005842	NP_005833	O43597	SPY2_HUMAN	Homo sapiens sprouty homolog 2 (Drosophila) (SPRY2), mRNA.	11					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CAAGGGCTGCGACCCGTTGCC	0.607000														55			17		0	0	0.000566183	0	0
FAM179A	165186	broad.mit.edu	37	2	29256429	29256429	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:29256429G>A	uc010ezl.3	+	16	2576	c.2225_splice	c.e16+1	p.G742_splice	FAM179A_uc010ymm.2_Splice_Site_p.G687_splice|FAM179A_uc002rmr.4_Splice_Site_p.G269_splice|FAM179A_uc002rms.1_Splice_Site_p.G40_splice	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	742							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATCAAGGAGGGGTATGGCTGC	0.537000														20			8		0	0	0.000274275	0	0
SLC22A10	387775	broad.mit.edu	37	11	63064784	63064784	+	Silent	SNP	A	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:63064784A>C	uc009yor.3	+	2	724	c.516A>C	c.(514-516)cgA>cgC	p.R172R	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	172						integral to membrane	transmembrane transporter activity	p.G171W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGTTTGGGCGAAGATTTATTC	0.408000														23			10		0	0	0.000151284	0	0
TLR1	7096	broad.mit.edu	37	4	38798570	38798570	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:38798570A>G	uc003gtl.3	-	3	2157	c.1883T>C	c.(1882-1884)tTa>tCa	p.L628S	TLR1_uc021xnn.1_Missense_Mutation_p.L628S	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	628					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GAGTTCTTCTAAGGGTATGTT	0.483000														35			8		0	0	0.000442599	0	0
DNAH10	196385	broad.mit.edu	37	12	124350537	124350537	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:124350537C>T	uc001uft.4	+	39	6755	c.6730C>T	c.(6730-6732)Cga>Tga	p.R2244*		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2244	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AACTGTCTCTCGATGTGGAAT	0.338000														99			18		0	0	0.000229342	0	0
KRT12	3859	broad.mit.edu	37	17	39021204	39021204	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:39021204C>T	uc002hvk.2	-	2	685	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	221	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				AGGGCCAGTTCATTCTCATAC	0.537000														40			6		0	0	8.12818e-05	0	0
GFAP	2670	broad.mit.edu	37	17	42992741	42992741	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:42992741G>A	uc021tyh.1	-	0	180	c.114C>T	c.(112-114)tcC>tcT	p.S38S	GFAP_uc002ihq.3_Silent_p.S38S|GFAP_uc002ihr.3_Silent_p.S38S|GFAP_uc010wjg.2_Non-coding_Transcript	NM_001242376	NP_001229305	P14136	GFAP_HUMAN	Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA.	38	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.S38F(2)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TTCGAGCCAGGGAGAGGCGGG	0.692000														19			17		0	0	0.000375601	0	0
ZNF454	285676	broad.mit.edu	37	5	178373936	178373936	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:178373936G>A	uc003mjo.2	+	3	500	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	ZNF454_uc010jkz.2_Missense_Mutation_p.E67K|ZNF454_uc021yjc.1_Missense_Mutation_p.E67K|ZNF454_uc003mjp.3_Missense_Mutation_p.R102K	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TTCCCAGCTAGAAAAAAGGGA	0.483000														124			23		0	0	0.000184323	0	0
BPIFA1	51297	broad.mit.edu	37	20	31826004	31826004	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:31826004C>T	uc002wyt.4	+	2	374	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	BPIFA1_uc002wyu.4_Silent_p.L102L|BPIFA1_uc002wyv.3_Silent_p.L102L	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA.	102					innate immune response	extracellular region	lipid binding										GATTCCTGGCCTGAACAACAT	0.542000														79			12		0	0	0.000422831	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65226364	65226365	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:65226364_65226365CC>TT	uc002aoa.3	+	8	826_827	c.797_798CC>TT	c.(796-798)gcc>gTT	p.A266V	ANKDD1A_uc002aoc.3_Non-coding_Transcript|ANKDD1A_uc010bha.3_Missense_Mutation_p.A175V	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA.	266					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CACTATGCAGCCCTCAGTGGCT	0.525000														109			20		0	0	6.4e-05	0	0
TCRB	0	broad.mit.edu	37	7	142099663	142099663	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:142099663C>T	uc003vyz.1	-	1	139	c.139G>A	c.(139-141)Ggt>Agt	p.G47S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.G47S					SubName: Full=Uncharacterized protein;																		GATACATGACCCGAAATTGGA	0.507000														41			20		0	0	0.000175454	0	0
KHSRP	8570	broad.mit.edu	37	19	6418740	6418740	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:6418740C>T	uc002mer.4	-	7	863	c.753G>A	c.(751-753)aaG>aaA	p.K251K	KHSRP_uc021unp.1_5'Flank	NM_003685	NP_003676	Q92945	FUBP2_HUMAN	Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA.	251	Gly-rich.|KH 2.				RNA splicing, via transesterification reactions|mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TCTCCCCGCCCTTGCCAATGA	0.672000														62			8		0	0	0.000673444	0	0
T	6862	broad.mit.edu	37	6	166578292	166578292	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:166578292C>T	uc003qut.1	-	3	950	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	T_uc003quu.1_Missense_Mutation_p.E222K|T_uc003quv.1_Missense_Mutation_p.E222K	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	222					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TCTCACCTTTCCTTTGCATCA	0.318000									Chordoma, Familial Clustering of					85			11		0	0	0.00010058	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471823	47471823	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:47471823G>A	uc001rpm.3	-	2	1618	c.963C>T	c.(961-963)ttC>ttT	p.F321F	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Silent_p.F321F|AMIGO2_uc001rpl.3_Silent_p.F321F|AMIGO2_uc021qxg.1_Silent_p.F321F	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	321	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CCACCCAGATGAAATCCGTAT	0.463000														124			23		0	0	0.000878237	0	0
OR1I1	126370	broad.mit.edu	37	19	15197931	15197931	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:15197931G>A	uc010xoe.2	+	0	55	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						GGGACTCTCAGAAAAGCCAGA	0.468000														56			12		0	0	0.00010058	0	0
CD2	914	broad.mit.edu	37	1	117307203	117307203	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:117307203G>A	uc001egu.4	+	3	740	c.711G>A	c.(709-711)agG>agA	p.R237R	CD2_uc010owz.1_Silent_p.R237R|CD2_uc010oxa.1_3'UTR	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	237					T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	TCACCAAAAGGAAAAAACAGA	0.493000														58			25		0	0	0.00047179	0	0
RNPEP	6051	broad.mit.edu	37	1	201970810	201970810	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:201970810C>T	uc001gxd.3	+	7	1370	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	RNPEP_uc001gxe.3_Silent_p.F148F	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	447					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		AATTCAAATTCCGAAGCATCT	0.493000														244			54		0	0	0.000781405	0	0
DEPDC4	120863	broad.mit.edu	37	12	100656056	100656056	+	Missense_Mutation	SNP	C	T	T	rs145497556		TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:100656056C>T	uc009ztv.1	-	2	689	c.686G>A	c.(685-687)cGg>cAg	p.R229Q	DEPDC4_uc001thh.1_Non-coding_Transcript|DEPDC4_uc001thi.3_Missense_Mutation_p.R229Q|DEPDC4_uc001thj.1_Missense_Mutation_p.R162Q|DEPDC4_uc001thk.1_Missense_Mutation_p.R40Q|DEPDC4_uc001thl.1_Non-coding_Transcript	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN	Homo sapiens DEP domain containing 4 (DEPDC4), mRNA.	229					intracellular signal transduction			p.L228I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TTTTGAAAGCCGGAGAAAAGG	0.343000														50			10		0	0	0.000673444	0	0
PDE6C	5146	broad.mit.edu	37	10	95380650	95380650	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:95380650C>T	uc001kiu.4	+	2	774	c.636C>T	c.(634-636)gtC>gtT	p.V212V		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	212	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GTCTGTAGGTCTTTTCCAAAT	0.413000														191			26		0	0	0.000184323	0	0
GRIK3	2899	broad.mit.edu	37	1	37270629	37270629	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:37270629C>T	uc001caz.2	-	14	2659	c.2524G>A	c.(2524-2526)Gag>Aag	p.E842K	GRIK3_uc001cba.1_Missense_Mutation_p.E842K	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	842					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TACACAAACTCGCCCACGGCC	0.572000														61			10		0	0	0.000442599	0	0
CDH22	64405	broad.mit.edu	37	20	44869812	44869812	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:44869812C>T	uc002xrm.2	-	1	739	c.340G>A	c.(340-342)Gag>Aag	p.E114K	CDH22_uc010ghk.1_Missense_Mutation_p.E114K	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	114	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D113N(1)|p.D113D(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCTGTCAGCTCGTCGATCAGG	0.622000														40			5		0	0	0.000602214	0	0
DPP3	10072	broad.mit.edu	37	11	66249829	66249829	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:66249829C>T	uc001oig.1	+	1	220	c.158C>T	c.(157-159)tCc>tTc	p.S53F	DPP3_uc001oif.1_Missense_Mutation_p.S53F|DPP3_uc010rpe.1_Missense_Mutation_p.S72F	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	53					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTTCAGACCTCCCCTGAGGCC	0.667000														38			17		0	0	0.00074312	0	0
COPA	1314	broad.mit.edu	37	1	160275485	160275485	+	Silent	SNP	G	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:160275485G>C	uc001fvv.4	-	15	1915	c.1521C>G	c.(1519-1521)gcC>gcG	p.A507A	COPA_uc009wti.3_Silent_p.A507A|COPA_uc009wtj.1_Silent_p.A453A	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	507					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACCGTGTTTGGCTAGTAGTG	0.458000														106			20		0	0	0.000375601	0	0
CNGA2	1260	broad.mit.edu	37	X	150912208	150912208	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:150912208G>A	uc004fey.1	+	6	1457	c.1233G>A	c.(1231-1233)agG>agA	p.R411R		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	411					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTCATTAGGTGGTTTGACT	0.502000														30			12		0	0	0.000219431	0	0
INSM1	3642	broad.mit.edu	37	20	20350318	20350318	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:20350318C>T	uc002wrx.3	+	0	1554	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F		NM_002196	NP_002187	Q01101	INSM1_HUMAN	Homo sapiens insulinoma-associated 1 (INSM1), mRNA.	469					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CCCAGGTGTTCCCCTGCAAGT	0.662000														31			6		0	0	8.12818e-05	0	0
HERC1	8925	broad.mit.edu	37	15	63986245	63986245	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:63986245G>A	uc002amp.3	-	29	5740	c.5592C>T	c.(5590-5592)ttC>ttT	p.F1864F		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	1864					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ccccttctccGAAAGAGGCCA	0.403000														13			4		0	0	0.00024832	0	0
IL20RB	53833	broad.mit.edu	37	3	136676961	136676961	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:136676961G>A	uc003eri.2	+	0	255	c.6G>A	c.(4-6)caG>caA	p.Q2Q	IL20RB_uc003erj.2_Non-coding_Transcript	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA.	2						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						ACCAAATGCAGACTTTCACAA	0.368000														26			10		0	0	0.000978159	0	0
HN1L	90861	broad.mit.edu	37	16	1748899	1748899	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:1748899C>T	uc010uvi.2	+	5	593	c.557C>T	c.(556-558)cCc>cTc	p.P186L	HN1L_uc002cmg.3_Missense_Mutation_p.P158L|HN1L_uc010brt.3_Non-coding_Transcript|HN1L_uc010bru.3_3'UTR|HN1L_uc010uvj.2_3'UTR|HN1L_uc010uvk.2_Missense_Mutation_p.P145L	NM_144570	NP_653171	Q9H910	HN1L_HUMAN	Homo sapiens hematological and neurological expressed 1-like (HN1L), mRNA.	158						cytoplasm|nucleus				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						GAGCCCATGCCCACAGTCGAC	0.632000														92			23		0	0	0.000295444	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43653937	43653938	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:43653937_43653938CG>AT	uc001zrk.1	-	4	2039_2040	c.1892_1893CG>AT	c.(1891-1893)ccg>cAT	p.P631H	ZSCAN29_uc001zrj.1_Missense_Mutation_p.P511H|ZSCAN29_uc010bdg.1_Missense_Mutation_p.P241H|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_Non-coding_Transcript	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	631					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGCTCTTCTCCGGGAGTGTCAG	0.470000														164			8		0	0	6.4e-05	0	0
WDR20	91833	broad.mit.edu	37	14	102661347	102661347	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:102661347C>T	uc010txu.2	+	1	394	c.322C>T	c.(322-324)Cac>Tac	p.H108Y	WDR20_uc001ylf.3_Missense_Mutation_p.H120Y|WDR20_uc001ykz.3_Missense_Mutation_p.H108Y|WDR20_uc001yky.2_5'UTR|WDR20_uc001yla.3_Intron|WDR20_uc001ylb.3_Intron|WDR20_uc001ylc.3_Missense_Mutation_p.H108Y|WDR20_uc001yle.3_Intron|WDR20_uc001yld.3_Missense_Mutation_p.H108Y	NM_001242417	NP_001229346	Q8TBZ3	WDR20_HUMAN	Homo sapiens WD repeat domain 20 (WDR20), transcript variant 7, mRNA.	108										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						TGACTTCAACCACCTAACAGC	0.418000														70			8		0	0	0.000157383	0	0
BDP1	55814	broad.mit.edu	37	5	70806623	70806623	+	Missense_Mutation	SNP	C	T	T	rs5868598		TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:70806623C>T	uc003kbp.1	+	16	3967	c.3704C>T	c.(3703-3705)tCc>tTc	p.S1235F	BDP1_uc003kbn.1_Missense_Mutation_p.S1235F|BDP1_uc003kbo.3_Missense_Mutation_p.S1235F	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1235	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAAGAAATTTCCCAAAGGGAA	0.398000														47			13		0	0	0.00010058	0	0
TAF7	6879	broad.mit.edu	37	5	140699252	140699252	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:140699252C>T	uc003ljg.3	-	0	1100	c.360G>A	c.(358-360)aaG>aaA	p.K120K		NM_005642	NP_005633	Q15545	TAF7_HUMAN	Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA.	120					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATCCTTTTTCTTGCTTGCTT	0.438000														97			14		0	0	0.000151284	0	0
IL1RL1	9173	broad.mit.edu	37	2	102965638	102965638	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:102965638C>T	uc002tbu.1	+	9	1488	c.1217C>T	c.(1216-1218)cCt>cTt	p.P406L	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	406	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CAGATTCTGCCTGATGTTCTT	0.418000														32			10		0	0	0.000978159	0	0
HES1	3280	broad.mit.edu	37	3	193855629	193855629	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:193855629C>T	uc003ftq.2	+	3	689	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_005524	NP_005515	Q14469	HES1_HUMAN	Homo sapiens hairy and enhancer of split 1, (Drosophila) (HES1), mRNA.	150					Notch signaling pathway|endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		TGACCCAGATCAATGCCATGA	0.716000														60			10		0	0	0.000978159	0	0
DUSP27	92235	broad.mit.edu	37	1	167096537	167096537	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:167096537C>T	uc001geb.1	+	4	2185	c.2169C>T	c.(2167-2169)atC>atT	p.I723I		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	723					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TTGCCAGTATCCAGAACTGGA	0.542000														65			30		0	0	0.00058488	0	0
CIR1	9541	broad.mit.edu	37	2	175246495	175246496	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:175246495_175246496CC>AA	uc002uim.3	-	2	270_271	c.177_178GG>TT	c.(175-180)atggga>atTTga	p.59_60MG>I*	CIR1_uc002uin.3_5'UTR	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	Homo sapiens corepressor interacting with RBPJ, 1 (CIR1), mRNA.	59	Interaction with RBPJ.				RNA splicing|mRNA processing|negative regulation of transcription, DNA-dependent	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						CGTTCATCTCCCATAAGCAATC	0.342000														392			12		0	0	6.4e-05	0	0
POTEF	728378	broad.mit.edu	37	2	130832707	130832707	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:130832707C>T	uc010fmh.2	-	16	2738	c.2338G>A	c.(2338-2340)Gat>Aat	p.D780N		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	780	Actin-like.					cell cortex	ATP binding	p.W779C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCCATGTCATCCCAGTTGGTG	0.572000														87			34		0	0	0.000270559	0	0
FAM153B	202134	broad.mit.edu	37	5	175530757	175530757	+	Splice_Site	SNP	A	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:175530757A>C	uc003mdk.3	+	14	793	c.736_splice	c.e14-2	p.T246_splice	FAM153B_uc021yic.1_Splice_Site	NM_001079529	NP_001072997	P0C7A2	F153B_HUMAN	Homo sapiens family with sequence similarity 153, member B (FAM153B), mRNA.	246										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CTGTCGTTACAGACATCCTTG	0.448000														64			12		0	0	0.000958276	0	0
PPFIA4	8497	broad.mit.edu	37	1	203015102	203015102	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:203015102C>T	uc009xaj.3	+	11	1433	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F	PPFIA4_uc010pqf.2_Missense_Mutation_p.S38F			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	259	SAM 2.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						AACAAGGAGTCCCTGCACCGC	0.577000														210			42		0	0	0.000781405	0	0
TBC1D23	55773	broad.mit.edu	37	3	100009430	100009431	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:100009430_100009431CC>TT	uc003dtt.3	+	4	662_663	c.485_486CC>TT	c.(484-486)tcc>tTT	p.S162F	TBC1D23_uc003dts.3_Missense_Mutation_p.S162F	NM_001199198	NP_001186127	Q9NUY8	TBC23_HUMAN	Homo sapiens TBC1 domain family, member 23 (TBC1D23), transcript variant 1, mRNA.	162	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AGGGATTGTTCCCAGAAAGGGA	0.391000														43			9		0	0	6.4e-05	0	0
SCN10A	6336	broad.mit.edu	37	3	38768220	38768220	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:38768220G>A	uc003ciq.3	-	15	2964	c.2964C>T	c.(2962-2964)atC>atT	p.I988I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	988					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCGGATTAGCGATGAAGTCAC	0.572000														33			18		0	0	0.00074312	0	0
PHGDH	26227	broad.mit.edu	37	1	120277263	120277264	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:120277263_120277264GG>TT	uc001ehz.3	+	5	744_745	c.517_518GG>TT	c.(517-519)ggg>TTg	p.G173L	PHGDH_uc009whl.3_Missense_Mutation_p.G75L|PHGDH_uc009whm.3_Missense_Mutation_p.G71L|PHGDH_uc001eib.3_Missense_Mutation_p.G139L	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	173					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CCAGACTATAGGGTATGACCCC	0.446000														479			13		0	0	6.4e-05	0	0
KIAA1751	85452	broad.mit.edu	37	1	1890618	1890618	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:1890618A>T	uc001aim.1	-	15	1948	c.1792T>A	c.(1792-1794)Ttt>Att	p.F598I	KIAA1751_uc009vkz.1_Missense_Mutation_p.F598I	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	598										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TGAGCCAAAAATGAGATATTT	0.403000														74			17		0	0	0.000958276	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455097	84455097	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:84455097G>A	uc001vlk.3	-	0	1432	c.546C>T	c.(544-546)ctC>ctT	p.L182L		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	182						integral to membrane		p.L182L(2)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCCGGAGGTCGAGGTGGGTGA	0.527000														67			31		0	0	0.000491102	0	0
PBX2	5089	broad.mit.edu	37	6	32155893	32155893	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:32155893C>T	uc003oav.1	-	3	855	c.584G>A	c.(583-585)aGg>aAg	p.R195K	PBX2_uc003oaw.3_Missense_Mutation_p.R195K	NM_002586	NP_002577	P40425	PBX2_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 2 (PBX2), mRNA.	195							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GCTCTGCTCCCTCAGCAGGTT	0.587000														218			42		0	0	0.000781405	0	0
C20orf197	284756	broad.mit.edu	37	20	58645066	58645066	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:58645066G>A	uc002ybj.1	+	2	343	c.37G>A	c.(37-39)Gca>Aca	p.A13T		NM_173644	NP_775915	Q8N268	CT197_HUMAN	Homo sapiens chromosome 20 open reading frame 197 (C20orf197), mRNA.	13										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			TTATTGGCAGGCAGACGGCTA	0.567000														68			8		0	0	0.000274275	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661510	77661510	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:77661510G>A	uc011cbx.2	+	4	3137	c.2184G>A	c.(2182-2184)agG>agA	p.R728R	SHROOM3_uc011cbz.1_Silent_p.R552R|SHROOM3_uc003hkf.1_Silent_p.R603R|SHROOM3_uc003hkg.3_Silent_p.R506R	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	728					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCGAGGGGAGGACCGGTGCCT	0.677000														77			15		0	0	0.000308642	0	0
FILIP1	27145	broad.mit.edu	37	6	76024012	76024012	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:76024012C>T	uc010kbe.3	-	5	2075	c.1545G>A	c.(1543-1545)agG>agA	p.R515R	FILIP1_uc003phy.1_Silent_p.R512R|FILIP1_uc003phz.3_Silent_p.R413R|FILIP1_uc003pia.3_Silent_p.R512R|FILIP1_uc003pib.1_Silent_p.R264R	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	512								p.R512R(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCATATTTTTCCTTTCATCAA	0.323000														34			8		0	0	0.000157383	0	0
RPL32P3	132241	broad.mit.edu	37	3	129115100	129115100	+	RNA	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:129115100G>A	uc003eme.1	-	1		c.1079C>T			RPL32P3_uc003ema.3_Intron|RPL32P3_uc003emb.3_Non-coding_Transcript|RPL32P3_uc003emd.1_Intron					Homo sapiens ribosomal protein L32 pseudogene 3 (RPL32P3), non-coding RNA.											lung(1)	1						TTGACATTGTGGACCAGGAAC	0.458000														35			5		0	0	0.000602214	0	0
SYNE1	23345	broad.mit.edu	37	6	152651175	152651175	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:152651175C>T	uc021zhb.1	-	75	14868	c.14645G>A	c.(14644-14646)cGa>cAa	p.R4882Q	SYNE1_uc003qot.4_Missense_Mutation_p.R4811Q|SYNE1_uc003qou.4_Missense_Mutation_p.R4882Q|SYNE1_uc010kiz.3_Missense_Mutation_p.R637Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4882					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCACCATTCGGCTCTCACA	0.532000										HNSCC(10;0.0054)				27			5		0	0	0.000602214	0	0
OR5V1	81696	broad.mit.edu	37	6	29323094	29323094	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:29323094C>T	uc011dlo.2	-	0	961	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293R(2)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTCCTTATTCCTCAATGTGT	0.403000														26			8		0	0	0.000442599	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049157	42049157	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:42049157G>T	uc001cgz.4	-	3	2525	c.1312C>A	c.(1312-1314)Cag>Aag	p.Q438K	HIVEP3_uc001cha.4_Missense_Mutation_p.Q438K|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	438	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.T437P(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGAGGGGCTGGGTGGAGGTG	0.607000														59			11		4.36969e-10	4.31457e-09	0.000151284	1	0
BPIFB1	92747	broad.mit.edu	37	20	31878803	31878803	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:31878803G>A	uc002wyw.1	+	4	567	c.406G>A	c.(406-408)Gag>Aag	p.E136K	BPIFB1_uc010gej.1_Missense_Mutation_p.E136K	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	136						extracellular space	lipid binding										CATGACGACTGAGGCCCAAGC	0.637000														32			6		0	0	3.59834e-05	0	0
SLAMF7	57823	broad.mit.edu	37	1	160719702	160719702	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:160719702G>A	uc001fwq.3	+	2	483	c.468G>A	c.(466-468)ggG>ggA	p.G156G	SLAMF7_uc010pjn.2_Silent_p.G49G|SLAMF7_uc001fws.3_Silent_p.G49G|SLAMF7_uc001fwr.3_Silent_p.G156G|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Silent_p.G49G|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Silent_p.G49G	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	156	Ig-like C2-type.				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGAACATGGGGAAGAGGATG	0.522000														64			8		0	0	0.000274275	0	0
abParts	0	broad.mit.edu	37	14	106405688	106405688	+	RNA	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:106405688C>T	uc021ser.1	-	3033		c.50104G>A								Parts of antibodies, mostly variable regions.																		TTGGATGTGTCTGGGTTGATG	0.498000														82			25		0	0	0.00047179	0	0
CRYBA4	1413	broad.mit.edu	37	22	27019281	27019281	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr22:27019281C>T	uc003acz.4	+	2	158	c.123C>T	c.(121-123)ttC>ttT	p.F41F		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	41	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						AGCTTGGCTTCGAGACTGTGC	0.602000														60			30		0	0	0.00058488	0	0
UNC13C	440279	broad.mit.edu	37	15	54305995	54305995	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:54305995C>T	uc021smr.1	+	0	895	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	UNC13C_uc021sms.1_Missense_Mutation_p.R299W	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	299					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R299L(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTCCAGTCTCGGAGGGAAAC	0.443000														35			11		0	0	0.00010058	0	0
PKD1L1	168507	broad.mit.edu	37	7	47847972	47847972	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:47847972C>T	uc003tny.2	-	51	7734	c.7700G>A	c.(7699-7701)gGa>gAa	p.G2567E	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2567					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAGGCTCACTCCAACCACGGA	0.522000														53			9		0	0	0.000151284	0	0
MSH6	2956	broad.mit.edu	37	2	48030752	48030752	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:48030752G>A	uc002rwd.4	+	4	3518	c.3366G>A	c.(3364-3366)caG>caA	p.Q1122Q	MSH6_uc010fbj.3_Silent_p.Q820Q|MSH6_uc010yoj.2_Silent_p.Q820Q	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	1122	Poly-Glu.				DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAGAGGAGCAGGAAAATGGCA	0.398000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					26			7		0	0	8.12818e-05	0	0
ZNF331	55422	broad.mit.edu	37	19	54080376	54080376	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:54080376G>A	uc002qbx.1	+	6	1996	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	ZNF331_uc002qby.1_Missense_Mutation_p.E188K|ZNF331_uc002qbz.1_Missense_Mutation_p.E188K|ZNF331_uc010eqr.1_Missense_Mutation_p.E188K|ZNF331_uc002qca.1_Missense_Mutation_p.E188K|ZNF331_uc021uzg.1_Missense_Mutation_p.E188K|ZNF331_uc021uzh.1_Missense_Mutation_p.E188K|ZNF331_uc002qcb.1_Missense_Mutation_p.E188K|ZNF331_uc002qcc.1_Missense_Mutation_p.E188K|ZNF331_uc002qcd.1_Missense_Mutation_p.E188K	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GAAGCCCTACGAATGTAAAGA	0.423000			T	?	follicular thyroid adenoma									81			12		0	0	0.00010058	0	0
PNMA3	29944	broad.mit.edu	37	X	152226196	152226196	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:152226196G>A	uc022cho.1	+	0	784	c.784G>A	c.(784-786)Gag>Aag	p.E262K	PNMA3_uc004fhc.2_Missense_Mutation_p.E262K|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	262					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ggaggcaggagagaaagtatc	0.493000														93			32		0	0	0.000339439	0	0
OSBPL7	114881	broad.mit.edu	37	17	45892594	45892594	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:45892594G>A	uc002ilx.1	-	12	1447	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F	OSBPL7_uc002ilw.1_5'UTR	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	415					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						ATTCTCAGAAGAGCTGGCGGA	0.602000														31			4		0	0	0.000602214	0	0
SLITRK5	26050	broad.mit.edu	37	13	88327745	88327745	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:88327745C>T	uc001vln.3	+	1	321	c.102C>T	c.(100-102)gtC>gtT	p.V34V	SLITRK5_uc010tic.1_Intron|SLITRK5_uc021rlc.1_Silent_p.V34V	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	34						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CATCTCTCGTCCTTTCGTGTG	0.463000														109			27		0	0	0.000586117	0	0
MUC16	94025	broad.mit.edu	37	19	9060133	9060133	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:9060133C>T	uc002mkp.3	-	2	27517	c.27313G>A	c.(27313-27315)Ggg>Agg	p.G9105R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9107	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						GAGTGGGTCCCTGACATAAAA	0.478000														21			15		0	0	0.000308642	0	0
WDR5B	54554	broad.mit.edu	37	3	122133664	122133664	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:122133664C>T	uc003efa.1	-	0	1219	c.712G>A	c.(712-714)Gat>Aat	p.D238N		NM_019069	NP_061942	Q86VZ2	WDR5B_HUMAN	Homo sapiens WD repeat domain 5B (WDR5B), mRNA.	238										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		CTGCTATAATCCCATAGTTTA	0.378000														91			19		0	0	0.000295444	0	0
ITSN1	6453	broad.mit.edu	37	21	35247714	35247714	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr21:35247714G>A	uc002yta.1	+	33	4498	c.4230G>A	c.(4228-4230)ctG>ctA	p.L1410L	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Silent_p.L1405L|ITSN1_uc002ytj.2_Intron|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc010gmn.1_Non-coding_Transcript|ITSN1_uc002ytk.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1410	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCACGCCCTGGAGAAGGCGG	0.557000														69			10		0	0	0.00010058	0	0
FGA	2243	broad.mit.edu	37	4	155507125	155507125	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:155507125C>T	uc003iod.1	-	4	1514	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	FGA_uc003ioe.1_Missense_Mutation_p.E486K|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	486					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.E486K(2)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GAACCATCTTCGGAGGTCACC	0.493000														26			6		0	0	3.59834e-05	0	0
TMEM19	55266	broad.mit.edu	37	12	72091168	72091168	+	Missense_Mutation	SNP	C	T	T	rs139343453		TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:72091168C>T	uc001sws.3	+	3	1074	c.491C>T	c.(490-492)tCc>tTc	p.S164F	TMEM19_uc001swr.1_Missense_Mutation_p.S150F	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	164						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GTCGATTTTTCCAAGCAGTAC	0.522000														52			22		0	0	0.000295444	0	0
DSCAML1	57453	broad.mit.edu	37	11	117391953	117391953	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:117391953C>T	uc001prh.1	-	5	1287	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	DSCAML1_uc001pri.1_Missense_Mutation_p.E233K	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	369	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.E429*(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCAGCGTCTCGTTGCTGAGC	0.642000														68			42		0	0	0.000781405	0	0
PLA2G16	11145	broad.mit.edu	37	11	63365622	63365622	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:63365622G>A	uc001nxh.2	-	1	452	c.29C>T	c.(28-30)cCt>cTt	p.P10L	PLA2G16_uc001nxi.2_Intron|PLA2G16_uc009you.1_Missense_Mutation_p.P10L	NM_007069	NP_009000	P53816	PAG16_HUMAN	Homo sapiens phospholipase A2, group XVI (PLA2G16), transcript variant 1, mRNA.	10					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5						CAGGTCTCCAGGCTTAGGCTC	0.522000														12			12		0	0	0.00010058	0	0
TTN	7273	broad.mit.edu	37	2	179665300	179665300	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:179665300C>T	uc021vsy.1	-	3	630	c.405G>A	c.(403-405)gtG>gtA	p.V135V	TTN_uc021vsz.1_Silent_p.V135V|TTN_uc021vta.1_Silent_p.V135V|TTN_uc021vtb.1_Silent_p.V135V|TTN_uc002unb.2_Silent_p.V135V|TTN_uc002und.3_Silent_p.V135V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	135	Ig-like 2.						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)			GGTAGAACTTCACCACAGGTG	0.507000														64			6		0	0	3.59834e-05	0	0
NLRP8	126205	broad.mit.edu	37	19	56459545	56459545	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:56459545C>T	uc002qmh.3	+	0	348	c.277C>T	c.(277-279)Cct>Tct	p.P93S	NLRP8_uc010etg.3_Missense_Mutation_p.P93S	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	93	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGAGCGTTTCCCTGGACGACG	0.507000														29			6		0	0	3.59834e-05	0	0
NUDT10	170685	broad.mit.edu	37	X	51076066	51076066	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:51076066C>T	uc004dph.3	+	1	469	c.249C>T	c.(247-249)ttC>ttT	p.F83F	NUDT10_uc004dpi.4_Silent_p.F83F	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 10 (NUDT10), mRNA.	83	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGGGCGTCTTCGAACAGAACC	0.617000														25			10		0	0	0.000673444	0	0
C14orf182	283551	broad.mit.edu	37	14	50472359	50472359	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:50472359G>A	uc001wxi.1	-	0	1880	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_001012706	NP_001012724	A1A4T8	CN182_HUMAN	Homo sapiens chromosome 14 open reading frame 182 (C14orf182), mRNA.	53										large_intestine(2)|urinary_tract(1)	3						GCAAGAAGACGAAATGTCTGT	0.532000														146			19		0	0	0.000958276	0	0
GRM3	2913	broad.mit.edu	37	7	86479836	86479836	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:86479836G>A	uc003uid.3	+	4	3641	c.2542G>A	c.(2542-2544)Gga>Aga	p.G848R	GRM3_uc010lef.3_Nonsense_Mutation_p.W490*|GRM3_uc010leg.3_Missense_Mutation_p.G720R|GRM3_uc010leh.3_Missense_Mutation_p.G440R	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	848					synaptic transmission	integral to plasma membrane		p.G848E(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CAGTGTCAGTGGAACTGGGAC	0.478000														19			8		0	0	0.000442599	0	0
PXDN	7837	broad.mit.edu	37	2	1652770	1652770	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:1652770C>T	uc002qxa.3	-	16	2846	c.2782G>A	c.(2782-2784)Gac>Aac	p.D928N		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	928					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTGGCCAGGTCGCGGATGCTG	0.692000														20			8		0	0	0.000978159	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414219	19414219	+	RNA	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:19414219C>T	uc010tcj.1	-	0		c.31891G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GTTTCTCTTTCCTTTCTAATT	0.308000														27			5		0	0	0.000602214	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678243	25678243	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:25678243G>A	uc003grr.3	+	12	2026	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	SLC34A2_uc003grs.3_Missense_Mutation_p.E648K|SLC34A2_uc010iev.3_Missense_Mutation_p.E648K	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	649					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				cGAGGACTTGGAGGAGGCGCA	0.627000			T	ROS1	NSCLC									39			10		0	0	0.000673444	0	0
PACS2	23241	broad.mit.edu	37	14	105814892	105814892	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:105814892C>T	uc001yqu.3	+	1	686	c.182C>T	c.(181-183)tCc>tTc	p.S61F	PACS2_uc001yqs.2_5'UTR|PACS2_uc001yqt.3_Missense_Mutation_p.S61F|PACS2_uc001yqv.3_Missense_Mutation_p.S61F	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA.	61					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GAGCTGATCTCCGTGGTGATC	0.617000														97			11		0	0	0.000978159	0	0
USH2A	7399	broad.mit.edu	37	1	215956161	215956161	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:215956161C>G	uc001hku.1	-	52	10891	c.10504G>C	c.(10504-10506)Gtg>Ctg	p.V3502L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3502	Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGGGACTCACTCCTTGAGGC	0.418000										HNSCC(13;0.011)				19			3		0	0	6.4e-05	0	0
PRR5L	79899	broad.mit.edu	37	11	36424900	36424900	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:36424900G>A	uc001mwo.4	+	2	606	c.217G>A	c.(217-219)Gag>Aag	p.E73K	PRR5L_uc001mwp.3_Missense_Mutation_p.E73K|PRR5L_uc009ykk.3_Intron|PRR5L_uc010rfc.2_Missense_Mutation_p.E73K	NM_001160167	NP_079117	Q6MZQ0	PRR5L_HUMAN	Homo sapiens proline rich 5 like (PRR5L), transcript variant 1, mRNA.	73										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GCAAAGCAACGAGCTCTATGC	0.507000														34			16		0	0	0.00074312	0	0
CNIH3	149111	broad.mit.edu	37	1	224868708	224868708	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:224868708C>T	uc001hos.1	+	1	828	c.130C>T	c.(130-132)Cag>Tag	p.Q44*		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	Homo sapiens cornichon homolog 3 (Drosophila) (CNIH3), mRNA.	44					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CCCCATAGACCAGTGCAATCC	0.498000														111			21		0	0	0.000279167	0	0
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:31237922G>C	uc001rjt.1	+	4	751	c.500G>C	c.(499-501)aGa>aCa	p.R167T	DDX11_uc010sjw.1_Missense_Mutation_p.R167T|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Missense_Mutation_p.R167T|DDX11_uc001rjs.1_Missense_Mutation_p.R167T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R167T|DDX11_uc001rjw.1_Missense_Mutation_p.R141T|DDX11_uc001rjx.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	167	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding	p.R167T(18)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612000										Multiple Myeloma(12;0.14)				11			3		0	0	6.4e-05	0	0
SLC1A2	6506	broad.mit.edu	37	11	35287299	35287299	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:35287299C>T	uc001mwd.3	-	9	2020	c.1428G>A	c.(1426-1428)agG>agA	p.R476R	SLC1A2_uc021qfx.1_Silent_p.R467R|SLC1A2_uc001mwe.3_Silent_p.R467R|SLC1A2_uc010rev.1_Silent_p.R476R	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	476					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	AAGTTCTCATCCTGTCCCTGG	0.488000														23			16		0	0	0.000422831	0	0
XIST	7503	broad.mit.edu	37	X	73065144	73065144	+	RNA	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:73065144G>A	uc004ebm.1	-	0		c.7445C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CCAGGAAAAGGGGCCTTGGTG	0.493000														32			16		0	0	0.000566183	0	0
ZNF341	84905	broad.mit.edu	37	20	32379277	32379277	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:32379277C>T	uc002wzy.3	+	14	2539	c.2519C>T	c.(2518-2520)cCa>cTa	p.P840L	ZNF341_uc002wzx.3_Missense_Mutation_p.P833L|ZNF341_uc010geq.3_Missense_Mutation_p.P750L|ZNF341_uc010ger.3_Non-coding_Transcript|ZNF341_uc002wzz.3_Missense_Mutation_p.P267L	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	840					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCCGAGGGCCCATGTGCCATG	0.667000														21			15		0	0	0.00074312	0	0
SLC26A9	115019	broad.mit.edu	37	1	205884064	205884064	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:205884064G>A	uc001hdp.3	-	21	2734	c.2620C>T	c.(2620-2622)Cca>Tca	p.P874S	SLC26A9_uc001hdm.3_Missense_Mutation_p.P121S|SLC26A9_uc001hdn.3_Missense_Mutation_p.P121S|SLC26A9_uc001hdo.3_3'UTR|SLC26A9_uc001hdq.3_3'UTR	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	0						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GAGCCGTGTGGGCTCTGGGAC	0.522000														136			17		0	0	0.000132079	0	0
POU6F1	5463	broad.mit.edu	37	12	51586221	51586222	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:51586221_51586222GG>AA	uc001rxy.3	-	2	474_475	c.282_283CC>TT	c.(280-285)ccccag>ccTTag	p.Q95*	POU6F1_uc001rxz.3_Nonsense_Mutation_p.Q95*|POU6F1_uc001rya.3_Nonsense_Mutation_p.Q95*	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	Homo sapiens POU class 6 homeobox 1 (POU6F1), transcript variant 1, mRNA.	95	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						ACAGCAGGCTGGGGCACGGTTG	0.604000														108			15		0	0	6.4e-05	0	0
KCNQ2	3785	broad.mit.edu	37	20	62065217	62065217	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:62065217C>T	uc002yey.1	-	7	1240	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	KCNQ2_uc002yez.1_Missense_Mutation_p.D355N|KCNQ2_uc002yfa.1_Missense_Mutation_p.D355N|KCNQ2_uc002yfb.1_Missense_Mutation_p.D355N|KCNQ2_uc011aax.1_Missense_Mutation_p.D355N|KCNQ2_uc002yfc.1_Missense_Mutation_p.D355N	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	355					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GAGTGCAGGTCTGTGCGCGAG	0.637000														107			14		0	0	0.000219431	0	0
ENPP4	22875	broad.mit.edu	37	6	46111310	46111310	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:46111310T>A	uc003oxy.3	+	3	1554	c.1295T>A	c.(1294-1296)cTt>cAt	p.L432H		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	432						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CAGAATAGACTTTCTGTACCT	0.413000														28			5		0	0	0.000602214	0	0
PCLO	27445	broad.mit.edu	37	7	82581597	82581597	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:82581597C>T	uc003uhx.2	-	4	8961	c.8672G>A	c.(8671-8673)gGa>gAa	p.G2891E	PCLO_uc003uhv.2_Missense_Mutation_p.G2891E|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2822					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.Q2890H(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCAGTGATTCCCTGGGATAC	0.453000														62			11		0	0	0.000673444	0	0
TRAF3	7187	broad.mit.edu	37	14	103369643	103369643	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:103369643C>T	uc001ymc.2	+	10	1365	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	TRAF3_uc001ymd.2_Missense_Mutation_p.R338W|TRAF3_uc001yme.2_Missense_Mutation_p.R313W|TRAF3_uc010txy.2_Missense_Mutation_p.R255W|TRAF3_uc001ymf.1_Missense_Mutation_p.R71W	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	Homo sapiens TNF receptor-associated factor 3 (TRAF3), transcript variant 1, mRNA.	338					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		CAAGGAGATCCGGCCCTTCCG	0.542000														56			14		0	0	0.000422831	0	0
FAM83B	222584	broad.mit.edu	37	6	54805985	54805985	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:54805985C>T	uc003pck.3	+	4	2332	c.2216C>T	c.(2215-2217)tCc>tTc	p.S739F		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	739										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAATCAGTTTCCATTGCTGCT	0.398000														7			5		0	0	3.59834e-05	0	0
KIF4B	285643	broad.mit.edu	37	5	154394116	154394116	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:154394116C>T	uc010jih.1	+	0	857	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	233	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R233H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGCAGCTTTCGCTCCAAGCT	0.453000														67			14		0	0	0.000308642	0	0
COL3A1	1281	broad.mit.edu	37	2	189875617	189875617	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:189875617G>A	uc002uqj.1	+	50	4371	c.4254_splice	c.e50+1	p.T1418_splice		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1418	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTTGCACGGTAGGAAACAT	0.348000														41			9		0	0	0.000978159	0	0
APOB	338	broad.mit.edu	37	2	21247901	21247901	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:21247901C>T	uc002red.3	-	15	2468	c.2340G>A	c.(2338-2340)ttG>ttA	p.L780L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	780					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTCCTCTCCCAAGATGCGGA	0.512000														173			32		0	0	0.000491102	0	0
DNMBP	23268	broad.mit.edu	37	10	101646230	101646231	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:101646230_101646231CC>TT	uc001kqj.2	-	12	3536_3537	c.3444_3445GG>AA	c.(3442-3447)gaggag>gaAAag	p.E1149K	DNMBP_uc010qpl.1_Missense_Mutation_p.E85K|DNMBP_uc001kqg.2_Missense_Mutation_p.E437K|DNMBP_uc001kqh.2_Missense_Mutation_p.E781K	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1149	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GACTGCAGCTCCTCCAGGGTCT	0.550000														76			11		0	0	6.4e-05	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998840	72998840	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr18:72998840C>T	uc002lly.3	+	1	1906	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F	TSHZ1_uc021uln.1_Missense_Mutation_p.S448F	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	493						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G447V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CCCGCGGGGTCCACGACTTCT	0.597000														58			20		0	0	0.000175454	0	0
CCPG1	9236	broad.mit.edu	37	15	55657426	55657426	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:55657426G>A	uc010bfk.2	-	6	1087	c.788C>T	c.(787-789)tCc>tTc	p.S263F	CCPG1_uc002acy.3_Missense_Mutation_p.S263F|CCPG1_uc002acu.2_Missense_Mutation_p.S119F|CCPG1_uc002acz.2_Missense_Mutation_p.S263F|CCPG1_uc002acw.2_Intron|CCPG1_uc002acx.3_Missense_Mutation_p.S263F|CCPG1_uc002acv.2_Missense_Mutation_p.S263F	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN	Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.	263	Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTGACACTGGGAAAGATAATC	0.274000														151			17		0	0	0.000132079	0	0
SLAMF8	56833	broad.mit.edu	37	1	159802889	159802889	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:159802889G>A	uc001fue.4	+	2	801	c.591G>A	c.(589-591)gtG>gtA	p.V197V		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	197	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					ACAGAGATGTGGCCTATTCCT	0.567000														66			7		0	0	0.000157383	0	0
SEMA3E	9723	broad.mit.edu	37	7	83029395	83029395	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:83029395C>T	uc003uhy.2	-	10	1936	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	SEMA3E_uc022agy.1_Missense_Mutation_p.D379N	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	439	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCCACTCGATCTACTGCTATT	0.368000														38			5		0	0	0.000602214	0	0
IFNAR2	3455	broad.mit.edu	37	21	34617307	34617308	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr21:34617307_34617308CC>TA	uc002yrd.3	+	3	477_478	c.149_150CC>TA	c.(148-150)tcc>tTA	p.S50L	IFNAR2_uc002yrb.3_Missense_Mutation_p.S50L|IFNAR2_uc002yrc.3_Missense_Mutation_p.S50L|IFNAR2_uc002yre.3_Missense_Mutation_p.S50L|IFNAR2_uc002yrf.3_Missense_Mutation_p.S50L	NM_207585	NP_997468	P48551	INAR2_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	50					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AATTTCCGGTCCATCTTATCAT	0.351000														91			13		0	0	6.4e-05	0	0
MUC4	4585	broad.mit.edu	37	3	195501092	195501092	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:195501092T>C	uc021xjp.1	-	3	13184	c.13028A>G	c.(13027-13029)aAg>aGg	p.K4343R	MUC4_uc003fuz.3_Missense_Mutation_p.S23G|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Missense_Mutation_p.K84R|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Missense_Mutation_p.K84R|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Missense_Mutation_p.K107R|MUC4_uc003fvp.3_Missense_Mutation_p.K56R	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1100					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGTCGCCGGCTTGAAGAGTGG	0.662000														31			10		0	0	0.000673444	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100004335	100004335	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:100004335G>A	uc003uut.3	-	11	1400	c.1152C>T	c.(1150-1152)tcC>tcT	p.S384S	ZCWPW1_uc011kjq.2_Silent_p.S264S|ZCWPW1_uc003uur.3_Silent_p.S264S|ZCWPW1_uc003uus.3_Silent_p.S264S|ZCWPW1_uc011kjr.2_Silent_p.S384S|ZCWPW1_uc003uuu.1_Silent_p.S385S|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	384							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATAGCTCCAGGGACAGCTCCT	0.418000														74			9		0	0	0.000978159	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281609	71281609	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:71281609G>A	uc002jjn.3	-	1	1178	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	CDC42EP4_uc002jjo.3_Missense_Mutation_p.S344F|CDC42EP4_uc002jjp.1_Missense_Mutation_p.S274F|CDC42EP4_uc021ucn.1_Missense_Mutation_p.S344F	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.	344					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			ATCCATGAAGGAGAACTCCTT	0.647000														120			15		0	0	0.000566183	0	0
DUOX2	50506	broad.mit.edu	37	15	45387154	45387154	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:45387154C>T	uc001zun.3	-	31	4578	c.4375G>A	c.(4375-4377)Gac>Aac	p.D1459N	DUOX2_uc010bea.3_Missense_Mutation_p.D1459N	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1459					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GTCCTGAGGTCGAACTTCTCA	0.592000														70			8		0	0	0.000274275	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993513	140993513	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:140993513C>T	uc004fbt.3	+	3	647	c.323C>T	c.(322-324)tCc>tTc	p.S108F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	108							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAAGGACTCCCTGTCTCCT	0.547000										HNSCC(15;0.026)				24			26		0	0	0.000720815	0	0
TRPV5	56302	broad.mit.edu	37	7	142612196	142612196	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:142612196A>C	uc003wby.1	-	10	1571	c.1307T>G	c.(1306-1308)gTg>gGg	p.V436G		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	436					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGTCACCAGCACCAGGGAGGC	0.557000														9			8		0	0	0.000157383	0	0
CFHR5	81494	broad.mit.edu	37	1	196953100	196953100	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:196953100C>T	uc001gts.4	+	2	391	c.263C>T	c.(262-264)tCc>tTc	p.S88F		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	88	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GGAATGTGTTCCTTTCCTTTT	0.308000														9			4		0	0	0.00024832	0	0
ANLN	54443	broad.mit.edu	37	7	36447420	36447420	+	Silent	SNP	T	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:36447420T>C	uc003tff.3	+	4	1155	c.951T>C	c.(949-951)ctT>ctC	p.L317L	ANLN_uc011kaz.2_Silent_p.L229L|ANLN_uc003tfg.3_Silent_p.L317L|ANLN_uc010kxe.3_Silent_p.L317L	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	317	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CTGAGCTACTTCCAAAAACTC	0.403000														33			7		0	0	8.12818e-05	0	0
GFRA3	2676	broad.mit.edu	37	5	137600194	137600194	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:137600194G>A	uc003lcn.3	-	1	275	c.135C>T	c.(133-135)ctC>ctT	p.L45L	GFRA3_uc003lco.3_Silent_p.L45L	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	45					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCTGGCCTGGAGACAGCTGT	0.557000														26			20		0	0	0.00047179	0	0
MC5R	4161	broad.mit.edu	37	18	13826735	13826736	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr18:13826735_13826736GG>AA	uc010xaf.2	+	0	1193_1194	c.971_972GG>AA	c.(970-972)agg>aAA	p.R324K		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	324					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TTTCCCAGAAGGGATTAAGCAC	0.525000														95			15		0	0	6.4e-05	0	0
EPHA3	2042	broad.mit.edu	37	3	89448538	89448538	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:89448538C>T	uc003dqy.3	+	6	1727	c.1502C>T	c.(1501-1503)cCt>cTt	p.P501L	EPHA3_uc003dqx.1_Missense_Mutation_p.P501L|EPHA3_uc021xbf.1_Missense_Mutation_p.P501L	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	501	Fibronectin type-III 2.					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)		AGCCTCAAGCCTGACACTATA	0.428000										TSP Lung(6;0.00050)				29			14		0	0	0.000308642	0	0
LONRF2	164832	broad.mit.edu	37	2	100903504	100903504	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:100903504C>T	uc002tal.4	-	10	2582	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	648	Lon.			E -> Q (in Ref. 1; AAY84832).	proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GCGGCAAGTTCTTCATACTCT	0.493000														24			5		0	0	3.59834e-05	0	0
IRX5	10265	broad.mit.edu	37	16	54967726	54967726	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:54967726C>T	uc002ehv.3	+	2	1393	c.1393C>T	c.(1393-1395)Cag>Tag	p.Q465*	IRX5_uc021tin.1_Nonsense_Mutation_p.Q464*|IRX5_uc002ehw.3_Nonsense_Mutation_p.Q399*	NM_005853	NP_005844	P78411	IRX5_HUMAN	Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 1, mRNA.	465					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GAGCCAGTCTCAGCTAGACCT	0.488000														82			35		0	0	0.000374591	0	0
RELN	5649	broad.mit.edu	37	7	103206798	103206798	+	Silent	SNP	T	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:103206798T>C	uc022ajr.1	-	32	4969	c.4809A>G	c.(4807-4809)caA>caG	p.Q1603Q	RELN_uc022ajq.1_Silent_p.Q1603Q|RELN_uc010liz.3_Silent_p.Q1603Q	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1603					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.Q1603E(1)|p.Q1603K(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAATCCAGTTTGAGAGCTGT	0.403000														14			8		0	0	0.000157383	0	0
SPATA8	145946	broad.mit.edu	37	15	97326937	97326937	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:97326937G>A	uc002bue.3	+	0	259	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	DQ596112_uc021swx.1_5'Flank|DQ574554_uc021swy.1_5'Flank|DQ593500_uc010uro.1_5'Flank|DQ573064_uc021swz.1_5'Flank|DQ588115_uc021sxa.1_5'Flank|DQ591967_uc021sxb.1_5'Flank|DQ585716_uc021sxc.1_5'Flank|DQ570416_uc021sxd.1_5'Flank|DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	18										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TCTCTACCAGGAAATTGCCCC	0.552000														63			11		0	0	0.000673444	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47123702	47123702	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:47123702C>T	uc002iom.3	+	13	1942	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	IGF2BP1_uc010dbj.3_Silent_p.I397I	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	536	KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACCAGGTCATCGTGAAAATCA	0.552000														46			6		0	0	8.12818e-05	0	0
NUBP2	10101	broad.mit.edu	37	16	1836596	1836596	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:1836596C>T	uc002cmw.4	+	1	164	c.75C>T	c.(73-75)ggC>ggT	p.G25G	NUBP2_uc002cmx.4_5'UTR	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	Homo sapiens nucleotide binding protein 2 (NUBP2), mRNA.	25						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GAAAGGGGGGCGTTGGGAAAA	0.662000														64			10		0	0	0.000978159	0	0
ACACB	32	broad.mit.edu	37	12	109629448	109629448	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:109629448C>T	uc001tob.3	+	13	2294	c.2175C>T	c.(2173-2175)tcC>tcT	p.S725S	ACACB_uc001toc.3_Silent_p.S725S	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	725	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGGAACTGTCCATCCGAGGCG	0.488000														118			24		0	0	0.000339439	0	0
TMC7	79905	broad.mit.edu	37	16	19051753	19051753	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:19051753G>A	uc002dfp.2	+	8	1452	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	TMC7_uc010vao.1_3'UTR|TMC7_uc002dfq.3_Missense_Mutation_p.R441H|TMC7_uc010vap.2_Missense_Mutation_p.R331H	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	441						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTTGAGATCCGTCTGACAATC	0.468000														76			29		0	0	0.000184323	0	0
ELF5	2001	broad.mit.edu	37	11	34502425	34502425	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:34502425C>T	uc001mvo.1	-	5	825	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	ELF5_uc021qft.1_Missense_Mutation_p.E121K|ELF5_uc001mvp.2_Missense_Mutation_p.E189K|ELF5_uc009ykd.2_Missense_Mutation_p.E94K	NM_198381	NP_001413	Q9UKW6	ELF5_HUMAN	Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA.	199					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				ATTCCTTGTTCCCTATCTTCC	0.428000														25			7		0	0	0.000157383	0	0
DRP2	1821	broad.mit.edu	37	X	100505941	100505941	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:100505941C>T	uc004egz.2	+	15	2103	c.1734C>T	c.(1732-1734)ttC>ttT	p.F578F	DRP2_uc011mrh.1_Silent_p.F500F	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	578					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CATCCCAGTTCCTGGAGTGGG	0.537000														41			20		0	0	0.000175454	0	0
EOMES	8320	broad.mit.edu	37	3	27760228	27760228	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:27760228C>T	uc003cdy.3	-	3	1315	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	EOMES_uc003cdx.3_Missense_Mutation_p.D439N|EOMES_uc010hfn.2_Missense_Mutation_p.D439N|EOMES_uc011axc.1_Missense_Mutation_p.D144N	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	439					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ACACTCACATCGGTGTTTTGG	0.438000														149			22		0	0	0.000586117	0	0
ZNF132	7691	broad.mit.edu	37	19	58946494	58946494	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:58946494G>T	uc002qst.4	-	2	718	c.317C>A	c.(316-318)gCa>gAa	p.A106E		NM_003433	NP_003424	P52740	ZN132_HUMAN	Homo sapiens zinc finger protein 132 (ZNF132), mRNA.	106	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GGAAGGATCTGCATTAGGGAT	0.488000														142			22		2.48779e-11	2.46543e-10	0.000878237	1	0
XIRP2	129446	broad.mit.edu	37	2	168104833	168104833	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:168104833C>T	uc002udx.3	+	8	7020	c.6931C>T	c.(6931-6933)Cct>Tct	p.P2311S	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.P2136S|XIRP2_uc010fpq.3_Missense_Mutation_p.P2089S|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2136					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTTCCTCTTCCTCCTCCACC	0.443000														17			6		0	0	8.12818e-05	0	0
CACNA1E	777	broad.mit.edu	37	1	181765861	181765861	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:181765861G>A	uc009wxt.3	+	46	6461	c.6266G>A	c.(6265-6267)cGa>cAa	p.R2089Q	CACNA1E_uc001gow.3_Missense_Mutation_p.R2046Q|CACNA1E_uc009wxs.3_Missense_Mutation_p.R2027Q	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2089					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R2089Q(1)|p.R2046Q(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCAAAAGAGCGAAAGCATCTT	0.572000														33			19		0	0	0.000229342	0	0
NFKBIE	4794	broad.mit.edu	37	6	44227798	44227798	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:44227798G>A	uc003oxe.1	-	4	1444	c.1419C>T	c.(1417-1419)ccC>ccT	p.P473P	SLC35B2_uc003oxd.3_5'Flank|SLC35B2_uc011dvt.2_5'Flank|SLC35B2_uc011dvu.2_5'Flank	NM_004556	NP_004547	O00221	IKBE_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon (NFKBIE), mRNA.	473					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCAGGTCCTGGGGCGTCTCAT	0.597000														37			11		0	0	0.00010058	0	0
FBN3	84467	broad.mit.edu	37	19	8153023	8153023	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:8153023C>T	uc002mjf.3	-	50	6434	c.6417G>A	c.(6415-6417)ggG>ggA	p.G2139G	FBN3_uc002mje.3_5'UTR	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2139	EGF-like 34; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGTGCATGTCCCTTGCCCAC	0.607000														66			13		0	0	0.000958276	0	0
FCRL6	343413	broad.mit.edu	37	1	159778212	159778212	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:159778212G>A	uc001fud.4	+	2	339	c.297G>A	c.(295-297)gaG>gaA	p.E99E	FCRL6_uc010pix.1_Silent_p.E94E|FCRL6_uc001fuc.2_Silent_p.E106E|FCRL6_uc009wsz.1_Silent_p.E99E|FCRL6_uc009wta.3_Silent_p.E99E	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	99						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AAACTTCAGAGACTGCCATGG	0.542000														59			12		0	0	0.00010058	0	0
MUC16	94025	broad.mit.edu	37	19	9062451	9062451	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:9062451C>T	uc002mkp.3	-	2	25199	c.24995G>A	c.(24994-24996)aGa>aAa	p.R8332K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8334	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						AGTGGTCAGTCTCTCATGGGA	0.498000														49			14		0	0	0.000958276	0	0
SPI1	6688	broad.mit.edu	37	11	47399874	47399874	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:47399874G>A	uc001nfb.1	-	0	254	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	SPI1_uc001nfc.1_Missense_Mutation_p.P11S|SLC39A13_uc001nfd.3_Intron|SPI1_uc009ylp.1_Missense_Mutation_p.P5S	NM_001080547	NP_001074016	P17947	SPI1_HUMAN	Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA.	11					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	RNA binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		GGGACGAGGGGAAACCCTTCC	0.682000														13			8		0	0	0.000274275	0	0
WBP2NL	164684	broad.mit.edu	37	22	42422922	42422922	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr22:42422922G>A	uc003bbt.3	+	5	761	c.667G>A	c.(667-669)Gga>Aga	p.G223R	WBP2NL_uc011apk.2_Missense_Mutation_p.G95R|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_Non-coding_Transcript	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	Homo sapiens WBP2 N-terminal like (WBP2NL), mRNA.	223	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CCCACCTCTTGGATACGGAGC	0.607000														102			66		0	0	0.000781405	0	0
CD1E	913	broad.mit.edu	37	1	158325810	158325810	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:158325810G>A	uc001fse.3	+	3	1112	c.819G>A	c.(817-819)ctG>ctA	p.L273L	CD1E_uc010pid.2_Silent_p.L271L|CD1E_uc010pie.2_Silent_p.L174L|CD1E_uc001fsh.3_Silent_p.L84L|CD1E_uc001fry.3_Intron|CD1E_uc001fsf.3_Silent_p.L273L|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Silent_p.L174L|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Silent_p.L183L|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Intron|CD1E_uc001frz.3_Silent_p.L183L|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Silent_p.L84L|CD1E_uc021pbm.1_Intron|CD1E_uc009wsw.3_Silent_p.L31L	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	273	Ig-like.				antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GAGCAACCCTGGATGTGGCGG	0.602000														129			7		0	0	0.000274275	0	0
CACNA1E	777	broad.mit.edu	37	1	181741255	181741255	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:181741255A>C	uc009wxt.3	+	36	5222	c.5027A>C	c.(5026-5028)aAg>aCg	p.K1676T	CACNA1E_uc001gow.3_Missense_Mutation_p.K1676T|CACNA1E_uc009wxs.3_Missense_Mutation_p.K1657T|CACNA1E_uc001gox.1_Missense_Mutation_p.K902T	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1676					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTTGGGGAGAAGGGCTGTGAG	0.567000														80			12		0	0	0.000151284	0	0
TTN	7273	broad.mit.edu	37	2	179472560	179472560	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:179472560C>A	uc021vsy.1	-	224	45475	c.45250G>T	c.(45250-45252)Gaa>Taa	p.E15084*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.E8779*|TTN_uc021vta.1_Nonsense_Mutation_p.E8712*|TTN_uc021vtb.1_Nonsense_Mutation_p.E8587*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16011	Fibronectin type-III 9.						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)			GGCGGTCCTTCCCCTGCGGCA	0.458000														25			21		1.17739e-12	1.17327e-11	0.000878237	1	0
F5	2153	broad.mit.edu	37	1	169505778	169505778	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:169505778G>A	uc001ggg.1	-	13	5082	c.4937C>T	c.(4936-4938)cCt>cTt	p.P1646L		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1646	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCTGATAATAGGACCAAGAAT	0.428000														23			4		0	0	0.000602214	0	0
PTCH2	8643	broad.mit.edu	37	1	45295698	45295698	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:45295698G>A	uc010olf.2	-	6	830	c.818C>T	c.(817-819)cCc>cTc	p.P273L	PTCH2_uc021omv.1_Missense_Mutation_p.P273L|PTCH2_uc010olg.2_5'UTR	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	273					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AGCCACATTGGGAGCCTGGAG	0.607000									Basal Cell Nevus syndrome					46			42		0	0	0.000781405	0	0
PDIA4	9601	broad.mit.edu	37	7	148701009	148701009	+	Silent	SNP	G	A	A	rs142824594		TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:148701009G>A	uc003wff.2	-	9	2097	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	605	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CACTGGGGGCGAAGTAGATGG	0.527000														68			12		0	0	0.000151284	0	0
NEBL	10529	broad.mit.edu	37	10	21074740	21074740	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:21074740C>T	uc001iqi.3	-	27	3378	c.2981G>A	c.(2980-2982)gGc>gAc	p.G994D	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Missense_Mutation_p.G250D|NEBL_uc021pnu.1_3'UTR	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	994	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGCACTGTGCCGTACATCCA	0.468000														13			4		0	0	0.00024832	0	0
ZNF236	7776	broad.mit.edu	37	18	74667977	74667977	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr18:74667977C>A	uc002lmi.3	+	27	5143	c.4945C>A	c.(4945-4947)Cag>Aag	p.Q1649K	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1649					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCCGGGCAACCAGCCAGAGAA	0.607000														23			5		8.12818e-05	0.000798188	8.12818e-05	1	0
CXorf23	256643	broad.mit.edu	37	X	19983592	19983592	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:19983592G>A	uc004czp.3	-	2	844	c.844C>T	c.(844-846)Cgt>Tgt	p.R282C	CXorf23_uc011mjg.2_5'UTR|CXorf23_uc004czo.3_Missense_Mutation_p.R232C	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.	282						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						CGTTTGTGACGATAGTCATAG	0.453000														26			11		0	0	0.000151284	0	0
ESPL1	9700	broad.mit.edu	37	12	53683916	53683916	+	Missense_Mutation	SNP	G	A	A	rs149892921		TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:53683916G>A	uc001sck.2	+	22	5252	c.5161G>A	c.(5161-5163)Gtg>Atg	p.V1721M	ESPL1_uc001scj.2_Missense_Mutation_p.V1396M	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1721					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCCCGGAACCGTGGGCAACAC	0.587000														18			5		0	0	0.000602214	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988032	154988033	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:154988032_154988033CC>TT	uc001fgj.4	+	4	1283_1284	c.998_999CC>TT	c.(997-999)tcc>tTT	p.S333F	ZBTB7B_uc009wpa.3_Missense_Mutation_p.S299F|ZBTB7B_uc001fgk.4_Missense_Mutation_p.S299F|ZBTB7B_uc010peq.2_Missense_Mutation_p.S333F|ZBTB7B_uc001fgl.4_Missense_Mutation_p.S299F	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	299					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCCCGCTGTCCCCAGAGGAGC	0.634000														47			5		0	0	6.4e-05	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1994178	1994178	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:1994178C>T	uc021qsx.1	-	9	1364	c.1133G>A	c.(1132-1134)aGa>aAa	p.R378K	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.R294K	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	378	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GAAGGCTTCTCTCAGGGCTTG	0.597000														127			20		0	0	0.00047179	0	0
MAP1A	4130	broad.mit.edu	37	15	43819178	43819178	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:43819178C>T	uc001zrt.3	+	3	5974	c.5507C>T	c.(5506-5508)cCc>cTc	p.P1836L		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1836						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCACTACTCCCTCATGGCTG	0.612000														69			8		0	0	0.000274275	0	0
MIOS	54468	broad.mit.edu	37	7	7628179	7628179	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:7628179C>T	uc003srf.3	+	7	2177	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F	MIOS_uc003srg.3_Silent_p.F158F|MIOS_uc010ktq.3_Missense_Mutation_p.S21F	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA.	623										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTGTAAATTCCTTAGTGATA	0.328000														13			18		0	0	0.000295444	0	0
EVX2	344191	broad.mit.edu	37	2	176948300	176948300	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:176948300C>T	uc010zeu.2	-	0	391	c.205G>A	c.(205-207)Ggc>Agc	p.G69S		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	69						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TCGAATTTGCCCTTGGCGGGG	0.632000														70			31		0	0	0.000339439	0	0
FARSA	2193	broad.mit.edu	37	19	13041110	13041110	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:13041110G>A	uc002mvs.2	-	3	478	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	FARSA_uc010xmv.1_Missense_Mutation_p.R144W	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	144					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	p.R144W(2)|p.R144R(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TGTCCCCCCCGGACCAGCTGG	0.652000														39			9		0	0	0.000442599	0	0
GNPDA2	132789	broad.mit.edu	37	4	44724174	44724174	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:44724174G>A	uc003gwy.3	-	1	208	c.51C>T	c.(49-51)gcC>gcT	p.A17A	GNPDA2_uc010iga.3_Silent_p.A17A|GNPDA2_uc011bzb.2_Intron|GNPDA2_uc003gwz.1_Silent_p.A17A	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN	Homo sapiens glucosamine-6-phosphate deaminase 2 (GNPDA2), mRNA.	17					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						AGATGTATTTGGCTGCCCATT	0.388000														19			10		0	0	0.000673444	0	0
CYP2C19	1557	broad.mit.edu	37	10	96447594	96447594	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:96447594G>A	uc001kjv.4	+	1	562	c.236G>A	c.(235-237)gGa>gAa	p.G79E	CYP2C19_uc001kjw.4_Missense_Mutation_p.G79E|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.2_5'Flank	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	79					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.G79E(1)|p.G79V(1)|p.G79*(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GTGTTGCATGGATATGAAGCA	0.423000														23			4		0	0	3.59834e-05	0	0
FBXW10	10517	broad.mit.edu	37	17	18673257	18673257	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:18673257C>T	uc002gul.3	+	9	2184	c.1952C>T	c.(1951-1953)tCc>tTc	p.S651F	FBXW10_uc002guj.3_Missense_Mutation_p.S622F|FBXW10_uc002guk.3_Missense_Mutation_p.S622F|FBXW10_uc010cqh.2_Intron	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	622										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CTCGACGTGTCCCTTCTCTTC	0.507000														137			30		0	0	0.000409698	0	0
MYH4	4622	broad.mit.edu	37	17	10360795	10360795	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:10360795C>T	uc002gmn.3	-	15	1950	c.1839G>A	c.(1837-1839)caG>caA	p.Q613Q	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	613	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGCAGACTTCTGGTACAGCC	0.498000														15			5		0	0	0.000602214	0	0
BPIFC	254240	broad.mit.edu	37	22	32833812	32833812	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr22:32833812G>A	uc003amn.2	-	6	682	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L	BPIFC_uc010gwo.2_Silent_p.L42L|BPIFC_uc011amb.1_5'UTR	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	228						extracellular region	lipopolysaccharide binding|phospholipid binding										TAATCCAGCAGAGTGTAGTTG	0.343000														19			11		0	0	0.000673444	0	0
AMY2B	280	broad.mit.edu	37	1	104115776	104115776	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:104115776C>T	uc010ouo.2	+	14	2111	c.407C>T	c.(406-408)cCt>cTt	p.P136L	AMY2B_uc001duq.3_Missense_Mutation_p.P136L|AMY2B_uc001dur.3_Missense_Mutation_p.P136L|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	136					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TACTTCAACCCTGGAAGTAGG	0.408000														108			45		0	0	0.000781405	0	0
COL6A2	1292	broad.mit.edu	37	21	47531410	47531410	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr21:47531410C>T	uc002zia.1	+	1	102	c.20C>T	c.(19-21)tCc>tTc	p.S7F	COL6A2_uc002zhz.1_Missense_Mutation_p.S7F|COL6A2_uc002zhy.1_Missense_Mutation_p.S7F	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	7					axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGCACCTGCTCCGTGCTCCTG	0.657000														48			8		0	0	0.000157383	0	0
VENTX	27287	broad.mit.edu	37	10	135053799	135053799	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:135053799G>A	uc010quy.1	+	2	777	c.766G>A	c.(766-768)Gat>Aat	p.D256N		NM_014468	NP_055283	O95231	VENTX_HUMAN	Homo sapiens VENT homeobox (VENTX), mRNA.	256					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D256H(2)		NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		ACAGACGGGGGATGCATTTTG	0.647000														29			8		0	0	0.000442599	0	0
RHCG	51458	broad.mit.edu	37	15	90023616	90023616	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:90023616C>T	uc002bnz.2	-	3	570	c.546G>A	c.(544-546)atG>atA	p.M182I	RHCG_uc002boa.2_Non-coding_Transcript|RHCG_uc010bnq.1_Missense_Mutation_p.M66I	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Homo sapiens Rh family, C glycoprotein (RHCG), mRNA.	182					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TGTGGATGGTCATGGAGCCTC	0.577000														130			13		0	0	0.000151284	0	0
OR2T12	127064	broad.mit.edu	37	1	248458452	248458452	+	Silent	SNP	G	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:248458452G>T	uc010pzj.2	-	0	429	c.429C>A	c.(427-429)acC>acA	p.T143T		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T143T(2)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AGGACGACATGGTCATCCTCA	0.587000														42			13		1.5739e-10	1.55689e-09	0.000422831	1	0
RPS6KA1	6195	broad.mit.edu	37	1	26881656	26881656	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:26881656G>A	uc001bmr.1	+	9	934	c.771G>A	c.(769-771)acG>acA	p.T257T	RPS6KA1_uc010ofe.1_Silent_p.T165T|RPS6KA1_uc010off.1_Silent_p.T241T|RPS6KA1_uc001bms.1_Silent_p.T266T|RPS6KA1_uc009vsl.1_Silent_p.T100T	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	257	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.T266T(1)		lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AGATGCTGACGGGCTCCCTGC	0.592000														51			6		0	0	8.12818e-05	0	0
GTF3C1	2975	broad.mit.edu	37	16	27499675	27499675	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:27499675C>T	uc002dov.2	-	22	3613	c.3573G>A	c.(3571-3573)tgG>tgA	p.W1191*	GTF3C1_uc002dou.3_Nonsense_Mutation_p.W1191*	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1191						transcription factor TFIIIC complex	DNA binding|protein binding	p.G1190C(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACTGCTCTTCCCAGCCAGCAC	0.562000														190			36		0	0	0.000228196	0	0
MYH3	4621	broad.mit.edu	37	17	10551931	10551931	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:10551931G>A	uc002gmq.2	-	7	766	c.678C>T	c.(676-678)ccC>ccT	p.P226P		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	226	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCTCCAGCAGGGGATTGGCAC	0.443000														69			19		0	0	0.000375601	0	0
DISP1	84976	broad.mit.edu	37	1	223176758	223176759	+	Missense_Mutation	DNP	CC	AA	AA	rs150357097		TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:223176758_223176759CC>AA	uc001hnu.2	+	9	2345_2346	c.2019_2020CC>AA	c.(2017-2022)ccccag>ccAAag	p.Q674K		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	674					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TCAAAAAGCCCCAGCAGCAAAT	0.411000														389			12		0	0	6.4e-05	0	0
ARID1A	8289	broad.mit.edu	37	1	27088683	27088683	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:27088683C>T	uc001bmv.1	+	6	2665	c.2292C>T	c.(2290-2292)tcC>tcT	p.S764S	ARID1A_uc001bmt.1_Silent_p.S764S|ARID1A_uc001bmu.1_Silent_p.S764S|ARID1A_uc001bmw.1_Silent_p.S381S	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	764					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGTACAGTTCCCCCCAGCCCG	0.527000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									79			34		0	0	0.00111076	0	0
C7orf42	55069	broad.mit.edu	37	7	66406954	66406954	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:66406954C>T	uc003tvk.3	+	1	366	c.102C>T	c.(100-102)ttC>ttT	p.F34F	C7orf42_uc010lah.3_Non-coding_Transcript	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	Homo sapiens chromosome 7 open reading frame 42 (C7orf42), mRNA.	34						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	17						CCATAGCTTTCCTGACCCTGG	0.527000														96			11		0	0	0.00010058	0	0
DOPEY2	9980	broad.mit.edu	37	21	37605107	37605107	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr21:37605107G>A	uc002yvg.3	+	14	2435	c.2356G>A	c.(2356-2358)Ggt>Agt	p.G786S	DOPEY2_uc011aeb.2_Missense_Mutation_p.G786S	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	786					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTCAGGAGCCGGTGATTCCAG	0.532000														106			20		0	0	0.000295444	0	0
CP	1356	broad.mit.edu	37	3	148939460	148939460	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:148939460C>T	uc003ewy.4	-	0	373	c.120G>A	c.(118-120)ggG>ggA	p.G40G	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewz.3_Silent_p.G40G	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	40	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTTTCTTTTCCCCATGGTCAG	0.323000														37			5		0	0	0.000274275	0	0
CPA1	1357	broad.mit.edu	37	7	130027771	130027771	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:130027771C>T	uc003vpx.3	+	9	1251	c.1179C>T	c.(1177-1179)gcC>gcT	p.A393A		NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	393					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TGCTGCCAGCCTCCCAGATCA	0.587000														155			51		0	0	0.000781405	0	0
KCNN3	3782	broad.mit.edu	37	1	154744469	154744469	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:154744469G>A	uc021pah.1	-	2	1744	c.1430C>T	c.(1429-1431)aCc>aTc	p.T477I	KCNN3_uc001ffo.3_Missense_Mutation_p.T172I|KCNN3_uc001ffp.3_Missense_Mutation_p.T477I|KCNN3_uc009wox.1_Missense_Mutation_p.T477I	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	482						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GACACGGACGGTCCAGGCAGC	0.547000														79			8		0	0	0.000673444	0	0
GDF15	9518	broad.mit.edu	37	19	18497249	18497249	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:18497249C>T	uc002niv.2	+	0	282	c.250C>T	c.(250-252)Cct>Tct	p.P84S	MIR3189_uc021uqo.1_5'Flank	NM_004864	NP_004855	Q99988	GDF15_HUMAN	Homo sapiens growth differentiation factor 15 (GDF15), mRNA.	84					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						CGTCCCGGCCCCTGCAGTCCG	0.577000														27			5		0	0	0.000602214	0	0
FAM5C	339479	broad.mit.edu	37	1	190067904	190067904	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:190067904G>A	uc001gse.1	-	7	1777	c.1545C>T	c.(1543-1545)atC>atT	p.I515I	FAM5C_uc010pot.1_Silent_p.I413I	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	515						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGTCATTGCTGATAAAAATGG	0.453000														117			58		0	0	0.000781405	0	0
MAML3	55534	broad.mit.edu	37	4	140810834	140810835	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:140810834_140810835CC>AA	uc021xsg.1	-	1	2507_2508	c.1755_1756GG>TT	c.(1753-1758)ttgggt>ttTTgt	p.585_586LG>FC	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	581	Asn-rich.|Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GAGTTTGTACCCAAGTTATTTG	0.431000														518			14		0	0	6.4e-05	0	0
SSPO	23145	broad.mit.edu	37	7	149521519	149521519	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:149521519C>T	uc010lpk.3	+	94	13589	c.13589C>T	c.(13588-13590)cCc>cTc	p.P4530L	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4533					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGTGGTCGCCCTGTGGGCCC	0.687000														15			4		0	0	0.000602214	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500269	48500269	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:48500269C>T	uc001zwn.4	+	1	569	c.353C>T	c.(352-354)aCc>aTc	p.T118I	SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.3_Missense_Mutation_p.T118I|SLC12A1_uc010uex.2_Missense_Mutation_p.T118I	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	118					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TATCGTAACACCGGCAGCATC	0.488000														43			5		0	0	3.59834e-05	0	0
MOV10	4343	broad.mit.edu	37	1	113238833	113238833	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:113238833G>A	uc001eck.3	+	11	2113	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Missense_Mutation_p.E615K|MOV10_uc001ecm.3_Missense_Mutation_p.E555K|MOV10_uc009wgj.1_Missense_Mutation_p.E555K	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	615					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GAAGCTGCAGGAATACCGGGT	0.537000														33			33		0	0	0.000319135	0	0
CITED1	4435	broad.mit.edu	37	X	71521587	71521587	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:71521587G>A	uc011mqc.2	-	3	844	c.646C>T	c.(646-648)Cca>Tca	p.P216S	CITED1_uc011mqd.2_Missense_Mutation_p.P190S|CITED1_uc004eas.3_Missense_Mutation_p.P190S|CITED1_uc004eat.3_Missense_Mutation_p.P190S	NM_001144885	NP_004134	Q99966	CITE1_HUMAN	Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 (CITED1), transcript variant 2, mRNA.	190					SMAD protein signal transduction|apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of Wnt receptor signaling pathway|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	LBD domain binding|chromatin binding|co-SMAD binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			skin(1)	1	Renal(35;0.156)					CAGCTAGATGGAAAGTCCGCA	0.483000														28			18		0	0	0.000295444	0	0
PCDHB6	56130	broad.mit.edu	37	5	140532155	140532155	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:140532155C>T	uc003lir.3	+	0	2317	c.2317C>T	c.(2317-2319)Cct>Tct	p.P773S		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	773					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCAACTTCCCTCCTCAGGG	0.483000														72			21		0	0	0.000229342	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	G	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:95522815A>G	uc010fhp.3	-	0		c.6T>C						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						ATCTTCTGCAATTCGGAGTCC	0.652000														103			5		0	0	0.000602214	0	0
PTH2R	5746	broad.mit.edu	37	2	209358320	209358320	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:209358320C>T	uc010zjb.2	+	12	1908	c.1622C>T	c.(1621-1623)tCc>tTc	p.S541F	PTH2R_uc002vdb.3_Missense_Mutation_p.S530F|PTH2R_uc010fuo.1_Intron	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	530						integral to plasma membrane	parathyroid hormone receptor activity	p.G541*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GAGAAGCCTTCCAGGCCTATG	0.502000														76			27		0	0	0.000720815	0	0
SLC16A3	9123	broad.mit.edu	37	17	80196792	80196792	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:80196792C>T	uc002kea.3	+	4	1488	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	SLC16A3_uc021ufm.1_Silent_p.F446F|SLC16A3_uc002keb.3_Silent_p.F446F|SLC16A3_uc002kec.3_Silent_p.F446F|SLC16A3_uc002ked.3_Silent_p.F446F|SLC16A3_uc021ufn.1_Silent_p.F446F|SLC16A3_uc021ufo.1_Silent_p.F446F	NM_001042422	NP_004198	O15427	MOT4_HUMAN	Homo sapiens solute carrier family 16, member 3 (monocarboxylic acid transporter 4) (SLC16A3), transcript variant 2, mRNA.	446					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TGGAGCATTTCCTGAAGGCTG	0.642000														73			64		0	0	0.000781405	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136323178	136323178	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:136323178G>A	uc004cdv.4	+	27	4483	c.4039G>A	c.(4039-4041)Ggc>Agc	p.G1347S	ADAMTS13_uc004cdp.4_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.G1291S|ADAMTS13_uc004cdu.1_Missense_Mutation_p.G1260S|ADAMTS13_uc004cdw.4_Missense_Mutation_p.G1291S|ADAMTS13_uc004cdx.4_Missense_Mutation_p.G1260S|ADAMTS13_uc004cdz.4_Missense_Mutation_p.G1017S|ADAMTS13_uc004cea.1_3'UTR|ADAMTS13_uc004ceb.4_Missense_Mutation_p.G143S|CACFD1_uc011mdg.1_5'Flank|CACFD1_uc011mdi.1_5'Flank|CACFD1_uc004cec.2_5'Flank|CACFD1_uc010nan.2_5'Flank|CACFD1_uc011mdh.1_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	1347	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CACCAACATGGGCGCTGGGAC	0.617000														33			7		0	0	8.12818e-05	0	0
PTPRS	5802	broad.mit.edu	37	19	5238961	5238961	+	Silent	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:5238961G>A	uc002mbv.3	-	12	2052	c.1818C>T	c.(1816-1818)acC>acT	p.T606T	PTPRS_uc002mbu.1_Silent_p.T593T|PTPRS_uc010xin.2_Silent_p.T593T|PTPRS_uc002mbw.3_Silent_p.T593T|PTPRS_uc002mbx.3_Silent_p.T597T|PTPRS_uc002mby.3_Silent_p.T593T	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	606	Fibronectin type-III 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCACCACGGGGGTGAAGGCGC	0.721000														38			15		0	0	0.000219431	0	0
PARP10	84875	broad.mit.edu	37	8	145057685	145057685	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr8:145057685G>A	uc003zal.4	-	7	2180	c.2072C>T	c.(2071-2073)cCc>cTc	p.P691L	PARP10_uc003zak.4_Missense_Mutation_p.P388L|PARP10_uc011lku.2_Missense_Mutation_p.P703L|PARP10_uc011lkv.2_Non-coding_Transcript|PARP10_uc003zam.2_Missense_Mutation_p.P682L	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 10 (PARP10), mRNA.	691	Glu-rich.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCAACGGGGGCTGCTCCAG	0.672000														17			4		0	0	3.59834e-05	0	0
ZNF845	91664	broad.mit.edu	37	19	53855012	53855012	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:53855012A>G	uc010ydv.1	+	3	1201	c.1084A>G	c.(1084-1086)Aaa>Gaa	p.K362E	ZNF845_uc010ydw.1_Missense_Mutation_p.K362E	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGAATGTGACAAAGCTTTCAG	0.388000														22			3		0	0	6.4e-05	0	0
KRT36	8689	broad.mit.edu	37	17	39646023	39646023	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:39646023G>A	uc002hwt.3	-	0	94	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	32	Head.					intermediate filament	protein binding|structural constituent of epidermis	p.R32C(2)		breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CCCACAGAACGGATGGAGGAC	0.637000														46			8		0	0	0.000157383	0	0
TULP1	7287	broad.mit.edu	37	6	35478663	35478663	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:35478663C>T	uc003okv.4	-	4	486	c.474G>A	c.(472-474)agG>agA	p.R158R	TULP1_uc003okw.4_Silent_p.R105R|TULP1_uc021yyx.1_Silent_p.R158R|TULP1_uc021yyy.1_Silent_p.R158R	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	158					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CCTTGGCCCTCCTCTCCTTCA	0.597000														92			22		0	0	0.000295444	0	0
PRC1	9055	broad.mit.edu	37	15	91525064	91525065	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:91525064_91525065GG>TT	uc002bqm.3	-	3	571_572	c.414_415CC>AA	c.(412-417)ccccac>ccAAac	p.H139N	PRC1_uc002bqn.3_Missense_Mutation_p.H139N|PRC1_uc002bqo.3_Missense_Mutation_p.H139N|PRC1_uc010uqs.2_Missense_Mutation_p.H98N|PRC1_uc010uqt.1_Missense_Mutation_p.H87N	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	139	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					ATATCATAGTGGGGCATACAAA	0.441000														749			19		0	0	6.4e-05	0	0
ITGB8	3696	broad.mit.edu	37	7	20418758	20418758	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:20418758C>T	uc003suu.3	+	3	1178	c.473C>T	c.(472-474)tCa>tTa	p.S158L	ITGB8_uc011jyh.2_Missense_Mutation_p.S23L|ITGB8_uc003sut.3_Missense_Mutation_p.S158L	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	158	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GTCTCAGCATCAATGCACAAT	0.348000														94			13		0	0	0.00010058	0	0
THBS3	7059	broad.mit.edu	37	1	155169793	155169793	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:155169793G>A	uc001fix.3	-	14	1925	c.1820C>T	c.(1819-1821)cCt>cTt	p.P607L	THBS3_uc021pat.1_Missense_Mutation_p.P4L|THBS3_uc010pfu.2_Missense_Mutation_p.P487L|THBS3_uc009wqi.3_Missense_Mutation_p.P598L|THBS3_uc001fiy.3_Missense_Mutation_p.P136L|THBS3_uc010pfv.2_Non-coding_Transcript	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	607					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TACCTGGGTAGGATTGCTCAT	0.552000														115			13		0	0	0.000219431	0	0
EPHA8	2046	broad.mit.edu	37	1	22903359	22903359	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:22903359G>A	uc001bfx.1	+	2	934	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	EPHA8_uc001bfw.3_Missense_Mutation_p.R270Q	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	270	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGGAGCGGCGGGATGCCTGT	0.677000														28			7		0	0	0.000157383	0	0
FAM114A2	10827	broad.mit.edu	37	5	153414364	153414364	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:153414364C>T	uc003lvd.3	-	2	292	c.150G>A	c.(148-150)cgG>cgA	p.R50R	FAM114A2_uc003lvb.3_Silent_p.R50R|FAM114A2_uc003lve.3_5'UTR|FAM114A2_uc011dda.2_Intron|FAM114A2_uc003lvc.3_Silent_p.R50R	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	Homo sapiens family with sequence similarity 114, member A2 (FAM114A2), mRNA.	50							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						CTGGTCTTTTCCGAGTGGAAA	0.433000														89			16		0	0	0.000958276	0	0
NLRP3	114548	broad.mit.edu	37	1	247587649	247587649	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:247587649G>A	uc001icr.3	+	4	1042	c.904G>A	c.(904-906)Gac>Aac	p.D302N	NLRP3_uc001ics.3_Missense_Mutation_p.D302N|NLRP3_uc001icu.3_Missense_Mutation_p.D302N|NLRP3_uc001icw.3_Missense_Mutation_p.D302N|NLRP3_uc001icv.3_Missense_Mutation_p.D302N|NLRP3_uc010pyw.2_Missense_Mutation_p.D300N|NLRP3_uc001ict.1_Missense_Mutation_p.D300N	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	302	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTTCCTCATGGACGGCTTCGA	0.587000														83			18		0	0	0.000175454	0	0
DSP	1832	broad.mit.edu	37	6	7585419	7585419	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:7585419G>A	uc003mxp.1	+	23	8203	c.7924G>A	c.(7924-7926)Gtt>Att	p.V2642I	DSP_uc003mxq.1_Missense_Mutation_p.V2043I|DSP_uc021yle.1_Missense_Mutation_p.V2199I	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2642	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCGGGGCATCGTTGACAGCAT	0.537000														100			26		0	0	0.000184323	0	0
TCP11L1	55346	broad.mit.edu	37	11	33065476	33065476	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:33065476C>T	uc001mud.3	+	1	557	c.157C>T	c.(157-159)Cct>Tct	p.P53S	TCP11L1_uc009yju.3_5'UTR|TCP11L1_uc010rei.2_Missense_Mutation_p.P53S|TCP11L1_uc001mue.3_Missense_Mutation_p.P53S	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	Homo sapiens t-complex 11 (mouse)-like 1 (TCP11L1), transcript variant 1, mRNA.	53										kidney(1)|liver(2)|lung(2)|skin(1)	6						AGTGCAGAGACCTCACTGTAA	0.468000														64			27		0	0	0.00106085	0	0
SENP2	59343	broad.mit.edu	37	3	185337175	185337175	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:185337175C>A	uc003fpn.3	+	12	1502	c.1331C>A	c.(1330-1332)cCt>cAt	p.P444H	SENP2_uc011brv.2_Missense_Mutation_p.P434H|SENP2_uc011brw.2_Missense_Mutation_p.P257H	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	444	Protease.				Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TTCTTCTATCCTAAATTAAAG	0.368000														656			16		0.000566183	0.00554983	0.000566183	1	0
MTNR1B	4544	broad.mit.edu	37	11	92715239	92715239	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:92715239C>T	uc001pdk.1	+	1	953	c.850C>T	c.(850-852)Cag>Tag	p.Q284*		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	284					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	AATGGCTCCCCAGATCCCTGA	0.502000														236			140		0	0	0.000781405	0	0
RTP1	132112	broad.mit.edu	37	3	186915469	186915469	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:186915469G>A	uc003frg.3	+	0	196	c.166G>A	c.(166-168)Gag>Aag	p.E56K		NM_153708	NP_714919	P59025	RTP1_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.	56					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GAAGATGGAGGAGGCAAAGCC	0.507000														34			15		0	0	0.000566183	0	0
HYDIN	54768	broad.mit.edu	37	16	70989289	70989289	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:70989289C>T	uc002ezr.3	-	39	6453	c.6302G>A	c.(6301-6303)gGa>gAa	p.G2101E		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2102										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCCTCCTCTCCTTCCTTCAC	0.567000														21			8		0	0	0.000274275	0	0
FBXW10	10517	broad.mit.edu	37	17	18682444	18682444	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:18682444G>A	uc002gul.3	+	11	3251	c.3019G>A	c.(3019-3021)Gaa>Aaa	p.E1007K	FBXW10_uc002guj.3_Missense_Mutation_p.E997K|FBXW10_uc002guk.3_Missense_Mutation_p.E998K|FBXW10_uc010cqh.2_Missense_Mutation_p.E945K|FAM18B1_uc002gum.2_5'Flank	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	998										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GGAGCACCAGGAAGCCAAGAT	0.502000														71			17		0	0	0.00074312	0	0
RREB1	6239	broad.mit.edu	37	6	7231149	7231149	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:7231149C>T	uc003mxb.3	+	9	3309	c.2817C>T	c.(2815-2817)atC>atT	p.I939I	RREB1_uc021yky.1_Silent_p.I939I|RREB1_uc003mxc.3_Silent_p.I939I|RREB1_uc010jnx.3_Silent_p.I939I|RREB1_uc021ykz.1_Silent_p.I939I|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	939					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ACCTGTCCATCCCCAAGAACT	0.602000														28			5		0	0	0.000602214	0	0
FMO2	2327	broad.mit.edu	37	1	171154965	171154965	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:171154965G>A	uc001ghk.1	+	1	230	c.113G>A	c.(112-114)gGa>gAa	p.G38E	FMO2_uc010pmd.1_Intron	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	38					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAAGATATTGGAGGAGTGTGG	0.453000														35			5		0	0	3.59834e-05	0	0
EIF4H	7458	broad.mit.edu	37	7	73604036	73604036	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:73604036C>T	uc003uad.1	+	2	289	c.281C>T	c.(280-282)tCc>tTc	p.S94F	EIF4H_uc011kfg.1_Missense_Mutation_p.S94F|EIF4H_uc003uae.1_Missense_Mutation_p.S94F|MIR590_uc022afx.1_5'Flank	NM_022170	NP_071496	Q15056	IF4H_HUMAN	Homo sapiens eukaryotic translation initiation factor 4H (EIF4H), transcript variant 1, mRNA.	94	RRM.				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						GAAGTGGATTCCCTTAAGGAA	0.398000														60			11		0	0	0.000673444	0	0
SLC40A1	30061	broad.mit.edu	37	2	190428646	190428646	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:190428646C>T	uc002uqp.4	-	6	1417	c.1066G>A	c.(1066-1068)Gga>Aga	p.G356R		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	356					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GCTACAGTTCCCATTATTCCA	0.473000														11			9		0	0	0.000274275	0	0
CCT6A	908	broad.mit.edu	37	7	56128511	56128511	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:56128511C>T	uc003trl.1	+	10	1389	c.1225C>T	c.(1225-1227)Cca>Tca	p.P409S	PSPH_uc003trj.3_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.P364S|CCT6A_uc011kcu.1_Missense_Mutation_p.P378S	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6A (zeta 1) (CCT6A), transcript variant 1, mRNA.	409					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGTGTGGTTCCAGGTGCTGG	0.438000														55			22		0	0	0.000720815	0	0
NOX5	79400	broad.mit.edu	37	15	69335039	69335040	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:69335039_69335040GG>AA	uc002ars.2	+	9	1582_1583	c.1541_1542GG>AA	c.(1540-1542)tgg>tAA	p.W514*	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Nonsense_Mutation_p.W468*|NOX5_uc002arp.2_Nonsense_Mutation_p.W496*|NOX5_uc010bid.2_Nonsense_Mutation_p.W479*|NOX5_uc010bie.2_Nonsense_Mutation_p.W314*|NOX5_uc002arr.2_Nonsense_Mutation_p.W486*|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	514	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAAGGCCAGTGGACAAACAGGC	0.545000														32			11		0	0	6.4e-05	0	0
GRM4	2914	broad.mit.edu	37	6	34101042	34101042	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:34101042G>A	uc003oir.4	-	0	595	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	GRM4_uc011dsn.2_Missense_Mutation_p.R78W|GRM4_uc010jvh.3_Missense_Mutation_p.R78W|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_5'UTR	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	78					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCCTCCAGCCGGTGGATGCCC	0.617000														31			8		0	0	0.000157383	0	0
FASTKD2	22868	broad.mit.edu	37	2	207651540	207651540	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:207651540C>T	uc002vbu.3	+	7	1921	c.1511C>T	c.(1510-1512)tCa>tTa	p.S504L	FASTKD2_uc002vbv.3_Missense_Mutation_p.S504L|FASTKD2_uc002vbx.3_Missense_Mutation_p.S504L|FASTKD2_uc002vbw.1_Missense_Mutation_p.S504L	NM_001136193	NP_055744	Q9NYY8	FAKD2_HUMAN	Homo sapiens FAST kinase domains 2 (FASTKD2), transcript variant 2, mRNA.	504					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GCAGTATATTCATTTTGCTTG	0.403000														23			15		0	0	0.000219431	0	0
KIAA0947	23379	broad.mit.edu	37	5	5462223	5462224	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:5462223_5462224CC>TT	uc003jdm.4	+	12	2998_2999	c.2776_2777CC>TT	c.(2776-2778)cca>TTa	p.P926L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	926								p.P926Q(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAGCATTTCACCAGAAGTTTCT	0.396000														41			13		0	0	6.4e-05	0	0
MTUS2	23281	broad.mit.edu	37	13	29600487	29600487	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:29600487C>T	uc001usl.4	+	0	1740	c.1682C>T	c.(1681-1683)cCc>cTc	p.P561L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	551						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCTACAACACCCAGTAGCAGT	0.512000														46			9		0	0	0.000673444	0	0
HELZ	9931	broad.mit.edu	37	17	65174871	65174871	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:65174871G>A	uc010wqk.2	-	12	1521	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.S445F	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GTCTAAAACGGACTGAGTAAA	0.373000														68			37		0	0	0.000228196	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050328	42050328	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:42050328C>T	uc001cgz.4	-	3	1354	c.141G>A	c.(139-141)gaG>gaA	p.E47E	HIVEP3_uc001cha.4_Silent_p.E47E|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	47					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGCGGGGCTCTCTTGGGTGG	0.632000														139			46		0	0	0.000781405	0	0
RASIP1	54922	broad.mit.edu	37	19	49243482	49243482	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:49243482G>A	uc002pki.3	-	1	255	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S		NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	20					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		AGGCCCACGGGGAGATGAAGC	0.637000														48			12		0	0	0.000151284	0	0
PHF15	23338	broad.mit.edu	37	5	133895560	133895560	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:133895560C>T	uc003kzk.2	+	4	438	c.400C>T	c.(400-402)Ccg>Tcg	p.P134S	PHF15_uc011cxt.1_Missense_Mutation_p.P118S|PHF15_uc003kzl.2_Missense_Mutation_p.P118S|PHF15_uc003kzm.2_Missense_Mutation_p.P118S|PHF15_uc003kzn.2_Missense_Mutation_p.P118S|PHF15_uc003kzo.1_Missense_Mutation_p.P118S	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	Homo sapiens PHD finger protein 15 (PHF15), mRNA.	118					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAGGCATCCCCGAGCAGCAC	0.617000														30			9		0	0	0.000274275	0	0
CLEC6A	93978	broad.mit.edu	37	12	8612252	8612252	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:8612252C>T	uc001qum.1	+	2	298	c.181C>T	c.(181-183)Cat>Tat	p.H61Y		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	Homo sapiens C-type lectin domain family 6, member A (CLEC6A), mRNA.	61					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)					ACACTCATATCATTCAAGTCT	0.373000														54			21		0	0	0.000375601	0	0
FCHSD1	89848	broad.mit.edu	37	5	141025397	141025397	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:141025397C>T	uc003llk.3	-	12	1303	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M	FCHSD1_uc010jgg.3_Missense_Mutation_p.V101M|FCHSD1_uc003llj.3_Non-coding_Transcript	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA.	418									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGCTCCACCTCATCCTGG	0.657000														8			4		0	0	0.000602214	0	0
FGD5	152273	broad.mit.edu	37	3	14964555	14964555	+	Silent	SNP	C	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:14964555C>T	uc003bzc.3	+	15	3920	c.3810C>T	c.(3808-3810)atC>atT	p.I1270I	FGD5_uc011avk.2_Silent_p.I1270I|FGD5_uc003bzd.3_Silent_p.I348I	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	1270					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GCCTGCAGATCGTGTGCCGGA	0.607000														55			15		0	0	0.000422831	0	0
MCOLN2	255231	broad.mit.edu	37	1	85422148	85422149	+	Frame_Shift_Ins	INS	-	T	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:85422148_85422149insT	uc001dkm.3	-	3	771_772	c.530_531insA	c.(529-531)aatfs	p.N177fs	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	177						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TCAGTGTCTCATTAGAAGGAAA	0.406													---	57	---	---	10	---					
ANKRD36	375248	broad.mit.edu	37	2	97875580	97875580	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:97875580delA	uc010yva.2	+	55	3582	c.3338delA	c.(3337-3339)gaafs	p.E1113fs		NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	1113										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ATAGCCAGAGAAAAAAAGGAT	0.323													---	4	---	---	2	---					
STX1A	6804	broad.mit.edu	37	7	73123425	73123427	+	In_Frame_Del	DEL	CAT	-	-			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:73123425_73123427delCAT	uc003tyx.3	-	1	112_114	c.56_58delATG	c.(55-60)gatgtc>gtc	p.D19del	STX1A_uc003tyy.3_In_Frame_Del_p.D19del|STX1A_uc010lbj.2_In_Frame_Del_p.D19del|MIR4284_uc022afw.1_5'Flank	NM_004603	NP_004594	Q16623	STX1A_HUMAN	Homo sapiens syntaxin 1A (brain) (STX1A), transcript variant 1, mRNA.	19					energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTGACAGCGACATCATCATCATC	0.586													---	218	---	---	8	---					
ITIH5	80760	broad.mit.edu	37	10	7618686	7618686	+	Frame_Shift_Del	DEL	T	-	-	rs2275069	byFrequency	TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:7618686delT	uc021pmv.1	-	9	1814	c.1708delA	c.(1708-1710)accfs	p.T570fs	ITIH5_uc021pmu.1_Frame_Shift_Del_p.T356fs|ITIH5_uc001ijr.2_Frame_Shift_Del_p.T570fs	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	570			T -> P (in dbSNP:rs2275069).		hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATGTGGTTGGTGTCCCCCTCT	0.587													---	38	---	---	10	---					
EBF4	57593	broad.mit.edu	37	20	2686263	2686263	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:2686263delC	uc002wgt.4	+	2	434	c.166delC	c.(166-168)cccfs	p.P56fs	EBF4_uc002wgs.4_Non-coding_Transcript	NM_001110514	NP_001103984	Q9BQW3	COE4_HUMAN	Homo sapiens early B-cell factor 4 (EBF4), mRNA.	60					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding										GAAGCAGCCTCCCTCCAACCT	0.587													---	4	---	---	2	---					
