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
MYH4	4622	broad.mit.edu	37	17	10356109	10356109	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:10356109G>A	uc002gmn.3	-	24	3363	c.3252C>T	c.(3250-3252)ctC>ctT	p.L1084L	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1084					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						CTTACTTTTTGAGTTTCTCAT	0.353000														91			77		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107877	168107877	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:168107877C>T	uc002udx.3	+	8	10064	c.9975C>T	c.(9973-9975)ttC>ttT	p.F3325F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.F3150F|XIRP2_uc010fpq.3_Silent_p.F3103F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3150					actin cytoskeleton organization	cell junction	actin binding	p.F3325V(1)		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						CTGAAAATTTCGTGAATGACC	0.448000														80			30		0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651947	96651947	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:96651947G>A	uc003pop.4	+	2	1257	c.916G>A	c.(916-918)Gac>Aac	p.D306N	FUT9_uc021zcw.1_Missense_Mutation_p.D306N	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	306					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GAAGGAAGTCGACAAAAACAA	0.368000														27			21		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208462	140208462	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:140208462C>T	uc003lho.2	+	0	813	c.786C>T	c.(784-786)atC>atT	p.I262I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Silent_p.I262I|PCDHAC2_uc011dab.2_Silent_p.I262I	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	277	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.I262I(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACAGTTATCAGACTGAATG	0.413000														92			75		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90535776	90535776	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:90535776G>A	uc010mqi.3	+	3	983	c.954G>A	c.(952-954)agG>agA	p.R318R	FAM75C1_uc004apq.4_Silent_p.R301R	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CCCGCCAAAGGGACACCACAA	0.552000														159			145		0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39932212	39932212	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:39932212G>A	uc004den.4	-	3	2679	c.2387C>T	c.(2386-2388)aCt>aTt	p.T796I	BCOR_uc004dep.4_Missense_Mutation_p.T796I|BCOR_uc004deo.4_Missense_Mutation_p.T796I|BCOR_uc004dem.4_Missense_Mutation_p.T796I|BCOR_uc004deq.4_Missense_Mutation_p.T796I	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	796					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						TTTGACAACAGTCTTCCCTTG	0.483000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							135			49		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104133226	104133226	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:104133226C>T	uc001tjw.3	+	53	5920	c.5734C>T	c.(5734-5736)Cca>Tca	p.P1912S	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1912					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCCCAGCTGCCCAAGGTGGAG	0.428000														39			23		0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98221922	98221922	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:98221922G>A	uc004avk.4	-	16	3035	c.2847C>T	c.(2845-2847)gtC>gtT	p.V949V	PTCH1_uc010mro.3_Silent_p.V798V|PTCH1_uc010mrp.3_Silent_p.V798V|PTCH1_uc010mrq.3_Silent_p.V798V|PTCH1_uc004avl.4_Silent_p.V798V|PTCH1_uc004avm.4_Silent_p.V948V|PTCH1_uc010mrr.3_Silent_p.V883V	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	949					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTTTGTCGTGGACCCATTCTG	0.567000														63			15		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043101	74043101	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:74043101C>T	uc002sjr.1	+	2	1872	c.1751C>T	c.(1750-1752)tCt>tTt	p.S584F		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	584	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCCAAGAAATCTGAAGAGAGT	0.438000														19			7		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543206	133543206	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:133543206G>A	uc002ttp.3	-	13	1552	c.1178C>T	c.(1177-1179)cCa>cTa	p.P393L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	393							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GATACGAGTTGGAGGTAGTTC	0.413000														38			17		0	0	1	0	0
TMEM43	79188	broad.mit.edu	37	3	14177346	14177346	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:14177346C>T	uc003byk.2	+	9	1074	c.820C>T	c.(820-822)Cca>Tca	p.P274S	TMEM43_uc003byl.1_Missense_Mutation_p.P154S	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	Homo sapiens transmembrane protein 43 (TMEM43), mRNA.	274						Golgi apparatus|endoplasmic reticulum|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						CCAGCTAGTCCCATTCTCCAC	0.607000														96			23		0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365299	7365299	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:7365299C>T	uc002ghc.4	-	3	3252	c.3002G>A	c.(3001-3003)aGg>aAg	p.R1001K	ZBTB4_uc002ghd.4_Missense_Mutation_p.R1001K	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	1001					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AACCCCTGCCCTTTCCCCTTC	0.607000														79			8		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44030985	44030985	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:44030985C>T	uc003bdy.2	-	17	2409	c.2095G>A	c.(2095-2097)Gaa>Aaa	p.E699K	EFCAB6_uc003bdz.2_Missense_Mutation_p.E547K|EFCAB6_uc010gzi.2_Missense_Mutation_p.E547K|EFCAB6_uc010gzj.1_Intron|EFCAB6_uc010gzk.1_Intron	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	699					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TAGCTACCTTCAAATCCTGCT	0.527000														33			17		0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108970494	108970494	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:108970494C>T	uc003yms.3	-	4	1088	c.430G>A	c.(430-432)Gga>Aga	p.G144R	RSPO2_uc003ymq.3_Missense_Mutation_p.G77R|RSPO2_uc003ymr.3_Splice_Site_p.G80_splice	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	144	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			ACTTCACATCCTTCTAGTAAA	0.373000														48			18		0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256524	63256524	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:63256524C>T	uc011cqt.2	-	0	1023	c.1023G>A	c.(1021-1023)agG>agA	p.R341R		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	341					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TCACTGTCTTCCTCTCTCGGG	0.607000														84			72		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21247973	21247973	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:21247973G>A	uc002red.3	-	15	2396	c.2268C>T	c.(2266-2268)ctC>ctT	p.L756L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	756					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)	TCTCAACACTGAGCATTATTC	0.448000														85			10		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21913063	21913063	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:21913063G>A	uc003svc.3	+	74	12191	c.12160G>A	c.(12160-12162)Gaa>Aaa	p.E4054K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4054	AAA 6 (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						GATCACTAATGAACCCCCAAC	0.473000									Kartagener syndrome					79			7		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327326	57327326	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:57327326C>T	uc002qnu.2	-	6	2835	c.2484G>A	c.(2482-2484)agG>agA	p.R828R	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.R799R|PEG3_uc002qnv.2_Silent_p.R828R|PEG3_uc002qnw.2_Silent_p.R704R|PEG3_uc002qnx.2_Silent_p.R702R|PEG3_uc010etr.2_Silent_p.R828R	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	828					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G827G(1)		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)		TACTGTATTCCCTTCCTTCAG	0.453000														143			21		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1983818	1983818	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:1983818C>T	uc021qsx.1	-	17	2061	c.1830G>A	c.(1828-1830)agG>agA	p.R610R	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	610						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)		TACCTGTTTCCCTATTGATCA	0.473000														50			5		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235860390	235860390	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:235860390C>T	uc001hxj.2	-	45	10732	c.10557G>A	c.(10555-10557)aaG>aaA	p.K3519K	LYST_uc001hxi.2_Silent_p.K743K	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3519					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TACCTTGTTCCTTGCTATATG	0.438000														83			11		0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155761095	155761095	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:155761095C>T	uc003qqm.3	-	5	766	c.663G>A	c.(661-663)ggG>ggA	p.G221G		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	221	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTTACCCCGTCCCATGGATGG	0.488000														22			15		0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	629846	629846	+	Silent	SNP	G	A	A	rs11550305	byFrequency	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:629846G>A	uc002lpf.1	-	2	572	c.516C>T	c.(514-516)gcC>gcT	p.A172A		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	172					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	p.A172A(2)		cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		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)		CCAGGCACCCGGCCATCTGCT	0.697000														21			3		0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011274	160011274	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:160011274C>T	uc001fuw.2	-	1	1289	c.1049G>A	c.(1048-1050)gGa>gAa	p.G350E		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	350						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCAGGGTCTCCGTAGCGTAC	0.507000														67			7		0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36583618	36583618	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:36583618G>A	uc002odd.2	+	18	2329	c.2238G>A	c.(2236-2238)ccG>ccA	p.P746P	WDR62_uc002odc.2_Silent_p.P746P	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	746					cerebral cortex development	nucleus		p.P746P(2)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCTGGGCCCGGAGATCACCA	0.597000														151			29		0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41209101	41209101	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:41209101G>A	uc002icq.3	-	18	5477	c.5245C>T	c.(5245-5247)Cca>Tca	p.P1749S	BRCA1_uc010whp.2_Missense_Mutation_p.P598S|BRCA1_uc010whl.2_Missense_Mutation_p.P645S|BRCA1_uc010whm.2_Missense_Mutation_p.P59S|BRCA1_uc002icp.4_Missense_Mutation_p.P1678S|BRCA1_uc002icu.3_Missense_Mutation_p.P645S|BRCA1_uc010cyx.3_Missense_Mutation_p.P1702S|BRCA1_uc002ict.3_Missense_Mutation_p.P1770S|BRCA1_uc010whn.2_Missense_Mutation_p.P240S|BRCA1_uc010who.2_Intron	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	1749			P -> R (in ovarian cancer; could be a polymorphism; abolishes ACACA binding and strongly reduces BRIP1 binding).		DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTCGCTTTGGACCTTGGTGG	0.463000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				235			81		0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903888	4903888	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:4903888C>T	uc010qyp.2	+	0	840	c.840C>T	c.(838-840)ttC>ttT	p.F280F		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCACTATTTTCTATGTGCCAC	0.498000														64			13		0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27134238	27134238	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:27134238A>G	uc003sye.3	-	1	923	c.829T>C	c.(829-831)Ttc>Ctc	p.F277L	HOXA1_uc003syd.3_3'UTR|HOXA1_uc022aao.1_3'UTR|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	277						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CGGTTCTGGAACCAGATCTTC	0.577000														80			35		0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14345756	14345756	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:14345756C>T	uc010uza.2	+	13	2596	c.2441C>T	c.(2440-2442)cCa>cTa	p.P814L	MKL2_uc002dcg.3_Missense_Mutation_p.P764L|MKL2_uc002dcj.3_Missense_Mutation_p.P59L	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	803					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACAGTTCTTCCATATCAGAGA	0.398000														111			49		0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138268672	138268672	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:138268672C>T	uc003vuc.3	+	17	3086	c.2871C>T	c.(2869-2871)tcC>tcT	p.S957S	TRIM24_uc003vub.3_Silent_p.S923S	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	957	Bromo.				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	p.S923S(2)|p.S957S(2)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AAGATTATTCCATGTACTCAA	0.348000														76			47		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50944211	50944211	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:50944211G>A	uc009xog.3	-	20	2882	c.2848C>T	c.(2848-2850)Ccc>Tcc	p.P950S	OGDHL_uc001jie.3_Missense_Mutation_p.P923S|OGDHL_uc010qgt.2_Missense_Mutation_p.P866S|OGDHL_uc010qgu.2_Missense_Mutation_p.P714S	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	923					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						AGGTCGAAGGGGAATGGAGAG	0.602000														26			6		0	0	1	0	0
CD3D	915	broad.mit.edu	37	11	118211182	118211182	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:118211182C>T	uc001pss.1	-	1	319	c.182G>A	c.(181-183)gGa>gAa	p.G61E	CD3D_uc001pst.1_Missense_Mutation_p.G61E|CD3D_uc021qrf.1_Intron	NM_000732	NP_000723	P04234	CD3D_HUMAN	Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA.	61					T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GATGCGTTTTCCCAGGTCCAG	0.458000														24			36		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130187919	130187919	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:130187919G>A	uc010htj.1	+	37	7565	c.7071G>A	c.(7069-7071)ctG>ctA	p.L2357L	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Silent_p.L396L|COL6A5_uc010htk.1_Silent_p.L396L	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2357	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen		p.L2357M(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTGTCTACCTGGAATTTGATT	0.463000														11			33		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61757427	61757428	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:61757427_61757428GG>AA	uc003xue.3	+	21	5347_5348	c.4855_4856GG>AA	c.(4855-4857)gga>AAa	p.G1619K	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1619					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity	p.W1618L(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTGCAGTTGGGGACGGTGGACA	0.465000														28			13		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2138228	2138228	+	Splice_Site	SNP	A	C	C	rs137854251		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:2138228A>C	uc002con.3	+	41	5267	c.5161_splice	c.e41-1	p.M1721_splice	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Splice_Site_p.M1698_splice|TSC2_uc002coo.3_Splice_Site_p.M1654_splice|TSC2_uc010uvv.2_Splice_Site_p.M1618_splice|TSC2_uc010uvw.2_Splice_Site_p.M1606_splice|TSC2_uc002cop.3_Splice_Site_p.M1477_splice|TSC2_uc002coq.3_Splice_Site_p.M496_splice	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1721	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ACGTCCCCAGATGGCCTCACA	0.647000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					117			9		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43111338	43111338	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:43111338C>T	uc011dve.1	+	13	2297	c.2255C>T	c.(2254-2256)cCa>cTa	p.P752L	PTK7_uc003oub.1_Missense_Mutation_p.P744L|PTK7_uc003ouc.1_Missense_Mutation_p.P688L|PTK7_uc003oud.1_Missense_Mutation_p.P704L|PTK7_uc003oue.1_Missense_Mutation_p.P614L|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	744					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.G751S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGCGAGGAGCCAGAGATGGAA	0.677000											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			4		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61829691	61829691	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:61829691C>T	uc001jky.3	-	36	11286	c.10948G>A	c.(10948-10950)Gat>Aat	p.D3650N	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3650					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATACTTTTATCCCCTTCCCCC	0.473000														90			10		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292869	33292869	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:33292869G>A	uc001wrq.3	+	12	6020	c.5850G>A	c.(5848-5850)aaG>aaA	p.K1950K		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1950					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGCTGGCAAGGAATTTGTTT	0.383000														54			32		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605446	140605446	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:140605446G>A	uc003ljb.3	+	0	2369	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	790					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.R790*(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAACTTTCGAAATAGCTTT	0.348000														64			58		0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89657539	89657539	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:89657539C>T	uc002fnp.3	+	14	1528	c.1398C>T	c.(1396-1398)atC>atT	p.I466I	CPNE7_uc002fnq.3_Silent_p.I391I	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	466	VWFA.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CCACAGGCATCCAGGGCGTGG	0.687000														7			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057895	9057895	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:9057895C>T	uc002mkp.3	-	2	29755	c.29551G>A	c.(29551-29553)Gat>Aat	p.D9851N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9853	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						ACAGTGGTATCGTCCACAGCG	0.478000														138			14		0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30365231	30365231	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr21:30365231C>T	uc002ymr.2	-	0	47	c.34G>A	c.(34-36)Gga>Aga	p.G12R		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	0							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TAATAACTTCCCCCGGGCCCT	0.642000														9			9		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12343332	12343332	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:12343332C>T	uc001atv.3	+	20	5314	c.5173C>T	c.(5173-5175)Ctc>Ttc	p.L1725F	VPS13D_uc001atw.3_Missense_Mutation_p.L1725F|VPS13D_uc001atx.3_Missense_Mutation_p.L913F	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1725					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCCTCGGTCTCTCCCTTCCCA	0.483000														61			13		0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73658637	73658637	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:73658637G>A	uc010dgl.3	-	3	902	c.693C>T	c.(691-693)ttC>ttT	p.F231F	RECQL5_uc010dgk.3_Silent_p.F204F|RECQL5_uc002joz.4_Silent_p.F231F|RECQL5_uc002jpa.4_Silent_p.F231F|RECQL5_uc002jpb.2_Silent_p.F231F	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	231					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCAGTTCCTTGAATTGCACAT	0.522000								Other identified genes with known or suspected DNA repair function						326			134		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179701959	179701959	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:179701959C>T	uc002une.2	-	22	4105	c.3987G>A	c.(3985-3987)gaG>gaA	p.E1329E	CCDC141_uc002unf.1_Silent_p.E808E	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	754							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GTAAAGCTCTCTCATGCACTT	0.483000														49			19		0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69358793	69358793	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:69358793G>A	uc001xkl.3	-	9	1373	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	ACTN1_uc010ttb.2_Missense_Mutation_p.P290S|ACTN1_uc001xkm.3_Missense_Mutation_p.P355S|ACTN1_uc001xkn.3_Missense_Mutation_p.P355S|ACTN1_uc001xko.1_Missense_Mutation_p.P290S|ACTN1_uc010ttd.1_Missense_Mutation_p.P334S	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	355	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCCTCAGAGGGCATGAAGGCA	0.617000														28			14		0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67219093	67219093	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:67219093G>A	uc001olm.3	-	0	1108	c.1103C>T	c.(1102-1104)tCg>tTg	p.S368L	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	368						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S368L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TGTGGGATCCGATCGTGGCTG	0.622000														42			9		0	0	1	0	0
PPM1H	57460	broad.mit.edu	37	12	63131336	63131336	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:63131336G>A	uc001srk.3	-	4	1049	c.900C>T	c.(898-900)atC>atT	p.I300I		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	300	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		AAGACATGGGGATAATTTCTC	0.468000														14			4		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83935737	83935737	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:83935737G>A	uc002bjt.1	-	2	374	c.286C>T	c.(286-288)Ctc>Ttc	p.L96F	BNC1_uc010uos.1_Missense_Mutation_p.L84F	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	96					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TAGAGCATGAGGCTGCTAATA	0.483000														36			23		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88301126	88301126	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:88301126C>T	uc001pcq.3	-	6	1925	c.1725G>A	c.(1723-1725)tgG>tgA	p.W575*	GRM5_uc009yvm.3_Nonsense_Mutation_p.W575*	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	575					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R574*(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CAGGGTCACCCCATCGAAGAT	0.488000														15			3		0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	28997994	28997994	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:28997994C>T	uc003xhh.4	-	19	2534	c.2475G>A	c.(2473-2475)caG>caA	p.Q825Q	AF086219_uc003xhi.1_Non-coding_Transcript	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	825					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCTCTCCTTTCTGGTTGATGA	0.413000														34			10		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8234291	8234291	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:8234291G>A	uc003wsh.4	-	1	1628	c.1628C>T	c.(1627-1629)cCc>cTc	p.P543L		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	543							ATP binding|non-membrane spanning protein tyrosine kinase activity	p.P543L(1)									CAACTTGGGGGGAATGGCGGG	0.632000														59			9		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106865239	106865239	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:106865239C>T	uc001kyi.1	+	6	1405	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	393						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GACATCAGTTCCCTGGTTGTC	0.498000														61			19		0	0	1	0	0
TEPP	374739	broad.mit.edu	37	16	58011806	58011806	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:58011806G>A	uc002emv.4	+	1	288	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	TEPP_uc002emw.4_Missense_Mutation_p.R84Q	NM_199046	NP_950247	Q6URK8	TEPP_HUMAN	Homo sapiens testis, prostate and placenta expressed (TEPP), transcript variant 1, mRNA.	84						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						CCCATGGAGCGGCAGCGCAAC	0.662000														108			21		0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70357680	70357680	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:70357680C>T	uc004dyy.3	+	40	6130	c.5931C>T	c.(5929-5931)caC>caT	p.H1977H	MED12_uc011mpq.1_Intron|MED12_uc004dyz.3_Silent_p.H1976H|MED12_uc004dza.3_Silent_p.H1827H|MED12_uc010nla.3_Silent_p.H606H	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1977	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.T1976I(1)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGAGCACCCACCCTTCTACCA	0.572000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							6			58		0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64022396	64022396	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:64022396C>T	uc009ypi.3	+	3	400	c.273C>T	c.(271-273)ggC>ggT	p.G91G	PLCB3_uc009ypg.2_Silent_p.G91G|PLCB3_uc009yph.2_Intron	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	91					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AAGTTCTGGGCTTTGGGGGTC	0.612000														9			14		0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89733188	89733188	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:89733188G>A	uc001dnc.3	-	4	877	c.340C>T	c.(340-342)Cag>Tag	p.Q114*	GBP5_uc001dnd.3_Nonsense_Mutation_p.Q114*|GBP5_uc001dne.1_Nonsense_Mutation_p.Q114*	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	114						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GCAAAGATCTGGATATCATTC	0.403000														10			49		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113395856	113395856	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:113395856C>T	uc003ynu.3	-	36	6130	c.5971G>A	c.(5971-5973)Gat>Aat	p.D1991N	CSMD3_uc003yns.3_Missense_Mutation_p.D1193N|CSMD3_uc003ynt.3_Missense_Mutation_p.D1951N|CSMD3_uc011lhx.2_Missense_Mutation_p.D1887N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1991	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCAGAGAATCCCAATTATGT	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				35			14		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579458	82579458	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:82579458C>T	uc003uhx.2	-	5	10735	c.10446G>A	c.(10444-10446)tgG>tgA	p.W3482*	PCLO_uc003uhv.2_Nonsense_Mutation_p.W3482*|PCLO_uc010lec.3_Nonsense_Mutation_p.W447*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3413					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						TAGGCATATCCCACTCATCCT	0.468000														52			47		0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18182929	18182929	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:18182929G>A	uc002nhx.1	-	9	1185	c.1134C>T	c.(1132-1134)acC>acT	p.T378T	IL12RB1_uc002nhw.1_Silent_p.T338T|IL12RB1_uc010xqb.1_Silent_p.T338T|IL12RB1_uc002nhy.3_Silent_p.T338T	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	338	Fibronectin type-III 4.		G -> R (in dbSNP:rs401502).		cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CACCTGTGTGGGTGTCGGCAG	0.612000														36			7		0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50680500	50680500	+	Silent	SNP	A	G	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:50680500A>G	uc003tpi.2	-	9	1178	c.1132T>C	c.(1132-1134)Ttg>Ctg	p.L378L	GRB10_uc003tph.3_Silent_p.L320L|GRB10_uc003tpj.2_Silent_p.L332L|GRB10_uc003tpk.2_Silent_p.L378L|GRB10_uc010kzb.2_Silent_p.L320L|GRB10_uc003tpl.2_Silent_p.L372L|GRB10_uc003tpm.2_Silent_p.L320L	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	378	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)					GCACAGAGCAACCTCAGCTCT	0.473000									Russell-Silver syndrome					36			8		0	0	1	0	0
C10orf27	219793	broad.mit.edu	37	10	72533997	72533997	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:72533997G>A	uc010qjm.1	-	8	1282	c.892C>T	c.(892-894)Cct>Tct	p.P298S	C10orf27_uc001jrj.1_Missense_Mutation_p.P297S|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Missense_Mutation_p.P296S|C10orf27_uc009xqi.1_Non-coding_Transcript	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA.	297					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2)	16						TTCTCTTGAGGAGGTTCATGC	0.622000														9			7		0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38397184	38397184	+	Missense_Mutation	SNP	C	G	G	rs147930374	by1000genomes	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:38397184C>G	uc022bgy.1	+	0	1439	c.1439C>G	c.(1438-1440)aCg>aGg	p.T480R	ALDH1B1_uc004aay.3_Missense_Mutation_p.T480R	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	480					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	ACCTGCCACACGCCATTTGGA	0.562000														50			11		0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51748684	51748684	+	Missense_Mutation	SNP	G	A	A	rs61848260		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:51748684G>A	uc001jix.4	+	0	607	c.209G>A	c.(208-210)cGg>cAg	p.R70Q		NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	70					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GTTCGTGACCGGGAGATGCCT	0.592000														122			7		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539360	56539360	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:56539360C>T	uc002qmj.3	+	6	1761	c.1761C>T	c.(1759-1761)ctC>ctT	p.L587L	NLRP5_uc002qmi.3_Silent_p.L568L	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	587	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACCTCAGTCTCCAGGACTTCT	0.542000														41			5		0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163307841	163307842	+	Missense_Mutation	DNP	AC	TT	TT	rs144568103		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:163307841_163307842AC>TT	uc001gcq.1	+	6	767_768	c.467_468AC>TT	c.(466-468)aac>aTT	p.N156I	NUF2_uc001gcr.1_Missense_Mutation_p.N156I	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.	156	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CAACAGTTAAACGCCGCACACC	0.342000														75			18		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2976069	2976069	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:2976069C>T	uc022aqr.1	-	41	6672	c.6282G>A	c.(6280-6282)caG>caA	p.Q2094Q	CSMD1_uc011kwj.2_Silent_p.Q1487Q|CSMD1_uc010lrg.3_Silent_p.Q163Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2095	Sushi 12.					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)		TGTACCCATTCTGAAATGGGG	0.408000														43			28		0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95556731	95556731	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:95556731C>T	uc001kjc.4	+	7	1181	c.845C>T	c.(844-846)tCc>tTc	p.S282F	LGI1_uc021pwk.1_Intron|LGI1_uc010qnv.2_Missense_Mutation_p.S234F|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	282					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				CCAGGCACATCCACTGTAGTA	0.468000														28			30		0	0	1	0	0
ZNF529	57711	broad.mit.edu	37	19	37038281	37038281	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:37038281G>A	uc002oeh.4	-	4	1381	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P	ZNF529_uc010xth.2_Silent_p.P393P|ZNF529_uc010xti.2_Silent_p.P375P|ZNF529_uc002oeg.4_Silent_p.P288P	NM_020951	NP_001139122	Q6P280	ZN529_HUMAN	Homo sapiens zinc finger protein 529 (ZNF529), transcript variant 2, mRNA.	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TGCATTCATAGGGTTTCTTAC	0.388000														162			26		0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100395693	100395693	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:100395693C>T	uc003pqh.1	-	2	652	c.337G>A	c.(337-339)Gat>Aat	p.D113N	MCHR2_uc003pqi.1_Missense_Mutation_p.D113N	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	113						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTACAAGTATCCAGGGATGTG	0.458000														107			38		0	0	1	0	0
ZNF32	7580	broad.mit.edu	37	10	44140135	44140135	+	Missense_Mutation	SNP	G	A	A	rs144676378		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:44140135G>A	uc001jbb.3	-	2	374	c.185C>T	c.(184-186)tCg>tTg	p.S62L	ZNF32-AS3_uc001jba.2_Intron|ZNF32_uc001jbc.3_Missense_Mutation_p.S62L	NM_001005368	NP_008904	P17041	ZNF32_HUMAN	Homo sapiens zinc finger protein 32 (ZNF32), transcript variant 2, mRNA.	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.S62L(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TAGTGTCTTCGAATCTGGGGA	0.458000														108			26		0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891350	30891350	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:30891350G>A	uc003aid.2	-	4	414	c.314C>T	c.(313-315)tCc>tTc	p.S105F	SEC14L4_uc011akz.1_Missense_Mutation_p.S105F|SEC14L4_uc003aie.2_Missense_Mutation_p.S90F|SEC14L4_uc003aif.2_Missense_Mutation_p.S51F	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	105	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GGGGTCGAGGGACCCAATGAT	0.547000														28			37		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46998957	46998957	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:46998957C>T	uc001jec.3	+	2	212	c.77C>T	c.(76-78)tCc>tTc	p.S26F	GPRIN2_uc021ppt.1_Missense_Mutation_p.S26F	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	26										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CAGAGCTCTTCCAGCCTGCTG	0.697000														74			31		0	0	1	0	0
KCTD11	147040	broad.mit.edu	37	17	7256553	7256553	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:7256553C>T	uc002gge.4	+	0	1346	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 11 (KCTD11), mRNA.	98					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				AGATGTCAGCCCCCGCCTGGT	0.657000														62			14		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108496435	108496435	+	Missense_Mutation	SNP	T	A	A	rs832352		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:108496435T>A	uc010ywk.2	+	20	5018	c.4936T>A	c.(4936-4938)Tgg>Agg	p.W1646R	RGPD4_uc002tdu.3_Missense_Mutation_p.W833R|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1646					intracellular transport		binding	p.W1646R(2)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCCTCCATTATGGCATGCTGA	0.358000														108			6		0	0	1	0	0
ARSA	410	broad.mit.edu	37	22	51063771	51063771	+	Silent	SNP	C	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:51063771C>A	uc003bna.4	-	7	1336	c.1074G>T	c.(1072-1074)ctG>ctT	p.L358L	ARSA_uc021wsd.1_Silent_p.L444L|ARSA_uc021wse.1_Silent_p.L444L|ARSA_uc021wsf.1_Silent_p.L444L|ARSA_uc003bmz.4_Silent_p.L442L	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	442						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CCACACCCCCCAGCAGGTTGT	0.642000														81			26		9.04412e-07	9.17402e-07	1	1	0
NLRP7	199713	broad.mit.edu	37	19	55451046	55451046	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:55451046C>T	uc002qih.4	-	3	1217	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	NLRP7_uc010esk.3_Missense_Mutation_p.E381K|NLRP7_uc002qig.4_Missense_Mutation_p.E381K|NLRP7_uc002qii.4_Missense_Mutation_p.E381K|NLRP7_uc010esl.3_Missense_Mutation_p.E409K	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	381	NACHT.						ATP binding	p.G380G(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ACCGGGTCCTCCCCCTTCTCC	0.687000														31			17		0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47360164	47360164	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:47360164C>T	uc021qis.1	-	22	2270	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K	MYBPC3_uc021qir.1_Missense_Mutation_p.E391K|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	738	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TCTGCCCCCTCGACCGTGAAG	0.622000														28			6		0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52663781	52663781	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:52663781G>A	uc010ydj.2	-	3	601	c.79C>T	c.(79-81)Cct>Tct	p.P27S	ZNF836_uc010ydi.2_Missense_Mutation_p.P27S	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	Homo sapiens zinc finger protein 836 (ZNF836), mRNA.	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTCTGCACAGGGTCCAGGGAT	0.448000														180			30		0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6690364	6690364	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:6690364G>A	uc022aqv.1	-	1	268	c.117C>T	c.(115-117)gcC>gcT	p.A39A	XKR5_uc003wqq.3_5'UTR|LOC100652791_uc022aqw.1_5'Flank	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.	39						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GGACAGCAAGGGCCAGCCACC	0.607000														23			17		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82833505	82833505	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:82833505C>T	uc003kii.3	+	7	5039	c.4683C>T	c.(4681-4683)gcC>gcT	p.A1561A	VCAN_uc003kij.3_Silent_p.A574A|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.A225A	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1561	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGAAAATAGCCTTTGCAAGGG	0.413000														63			15		0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206821272	206821272	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:206821272G>A	uc001hej.3	+	2	897	c.729G>A	c.(727-729)gaG>gaA	p.E243E	DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Silent_p.E223E	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	243	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TGCGCAATGAGAAGCGCTTTC	0.463000														169			16		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76877191	76877191	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:76877191C>T	uc001oyb.2	+	14	2052	c.1780C>T	c.(1780-1782)Cag>Tag	p.Q594*	MYO7A_uc010rsl.2_Nonsense_Mutation_p.Q594*|MYO7A_uc010rsm.1_Nonsense_Mutation_p.Q583*|MYO7A_uc001oyc.2_Nonsense_Mutation_p.Q594*	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	594	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCAGATCTTCCAGGCCGATGT	0.592000														20			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9054252	9054252	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:9054252G>A	uc002mkp.3	-	3	31574	c.31370C>T	c.(31369-31371)tCg>tTg	p.S10457L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10459	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						ACTGGCAGGCGAAGTGGATGT	0.448000														10			7		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40944419	40944419	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:40944419G>A	uc002xkg.3	-	11	2267	c.2083C>T	c.(2083-2085)Ctc>Ttc	p.L695F	PTPRT_uc010ggj.3_Missense_Mutation_p.L695F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	695	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.L695L(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGGGAGAGAGAGGAGGGTTC	0.498000														140			16		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481738	140481738	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:140481738C>T	uc003lio.3	+	0	1505	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	BC016751_uc003lin.3_Non-coding_Transcript	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	502	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTCTCTTCCCTGGTCTCC	0.657000														185			33		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1271344	1271344	+	Splice_Site	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:1271344G>A	uc002qwq.3	+	14	1413	c.1284_splice	c.e14+1	p.G428_splice	SNTG2_uc010ewi.3_Splice_Site_p.G301_splice	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	428					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			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)		GAGAACCGGGGTAAGTGAACA	0.507000														18			4		0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	587429	587429	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:587429T>G	uc001lqe.3	+	3	516	c.385T>G	c.(385-387)Tac>Gac	p.Y129D	PHRF1_uc010qwc.2_Missense_Mutation_p.Y129D|PHRF1_uc010qwd.2_Missense_Mutation_p.Y128D|PHRF1_uc010qwe.2_Missense_Mutation_p.Y125D	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	129							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTGTGCCCATTACTTCTGCCT	0.547000														70			31		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8234850	8234850	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:8234850G>A	uc003wsh.4	-	1	1069	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	357							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCGAGGTGGGGGACGAAGGGG	0.647000														7			5		0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50465600	50465600	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr13:50465600G>A	uc001vdk.2	+	0	1056	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		TGAAAACTTGGAATTAGAAAT	0.378000														84			9		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396877	154396877	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:154396877G>A	uc010jih.1	+	0	3618	c.3458G>A	c.(3457-3459)gGa>gAa	p.G1153E		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1153	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.G1153V(3)		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)			GTGACCCCAGGATTGAGCTTC	0.537000														88			7		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141215151	141215151	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:141215151C>T	uc002tvj.1	-	60	10667	c.9695G>A	c.(9694-9696)gGg>gAg	p.G3232E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3232					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTGGTTTTCCCATCAGTCCA	0.428000										TSP Lung(27;0.18)				45			88		0	0	1	0	0
GLS2	27165	broad.mit.edu	37	12	56868855	56868855	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:56868855G>A	uc001slj.3	-	9	1248	c.969C>T	c.(967-969)gcC>gcT	p.A323A	GLS2_uc021qzb.1_Silent_p.A286A|GLS2_uc021qzc.1_Intron|GLS2_uc021qzd.1_Silent_p.A58A|GLS2_uc009zos.3_Non-coding_Transcript|GLS2_uc001slk.3_Silent_p.A58A|GLS2_uc009zot.3_Intron	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	Homo sapiens glutaminase 2 (liver, mitochondrial) (GLS2), nuclear gene encoding mitochondrial protein, mRNA.	323					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AATAGCCGATGGCATAATTCC	0.498000														30			147		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422649	26422649	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:26422649C>T	uc003abz.1	+	42	6959	c.6709C>T	c.(6709-6711)Ccg>Tcg	p.P2237S	MYO18B_uc003aca.1_Missense_Mutation_p.P2118S|MYO18B_uc010guy.1_Missense_Mutation_p.P2119S|MYO18B_uc010guz.1_Missense_Mutation_p.P2117S|MYO18B_uc011aka.1_Missense_Mutation_p.P1391S|MYO18B_uc011akb.1_Missense_Mutation_p.P1750S|MYO18B_uc010gva.1_Missense_Mutation_p.P220S|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2237						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						AAATACATCCCCGCTGTCGAG	0.592000														30			8		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60768369	60768369	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:60768369G>A	uc002jad.3	+	27	4474	c.4072G>A	c.(4072-4074)Ggc>Agc	p.G1358S	MRC2_uc002jae.3_Missense_Mutation_p.G429S|MRC2_uc002jaf.3_Missense_Mutation_p.G224S	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	1358	C-type lectin 8.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGGGCCCCCGGGCTTGGGCCC	0.622000														24			5		0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	65957041	65957041	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:65957041G>A	uc002api.3	-	30	5761	c.5376C>T	c.(5374-5376)gtC>gtT	p.V1792V	DENND4A_uc002aph.3_Silent_p.V1749V	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	1749					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GCAATAAATGGACCATTGGAT	0.333000														34			4		0	0	1	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61404558	61404558	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:61404558C>T	uc001nrz.1	+	4	1162	c.407C>T	c.(406-408)tCc>tTc	p.S136F						Homo sapiens ribosomal protein, large, P0 pseudogene 2 (RPLP0P2), non-coding RNA.																		GAGAAGACCTCCTTTTTCCAG	0.547000														22			6		0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11289038	11289038	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:11289038G>A	uc002mqm.3	-	3	1606	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	KANK2_uc021upe.1_Silent_p.F501F|KANK2_uc002mqo.4_Silent_p.F501F|KANK2_uc002mqp.1_Silent_p.F310F	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	501										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGACCCCCACGAACTGGAGGC	0.647000														29			6		0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10996530	10996530	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:10996530C>G	uc002daj.4	+	7	780	c.647C>G	c.(646-648)tCc>tGc	p.S216C	CIITA_uc002dai.4_Missense_Mutation_p.S215C|CIITA_uc002dak.4_Missense_Mutation_p.S166C|CIITA_uc002dag.2_Missense_Mutation_p.S215C|CIITA_uc002dah.2_Missense_Mutation_p.S167C|CIITA_uc010bup.1_Missense_Mutation_p.S215C	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	215					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	p.S215C(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TTCTCCAGTTCCTCGTTGAGC	0.512000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									61			6		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133044233	133044233	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:133044233C>T	uc003ytg.2	-	10	926	c.926G>A	c.(925-927)gGa>gAa	p.G309E	OC90_uc011lix.1_Missense_Mutation_p.G309E	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	325					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GAGCATCTCTCCAAGCTGTGG	0.522000														47			22		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84444310	84444310	+	Splice_Site	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:84444310G>A	uc010chj.3	+	6	543	c.454_splice	c.e6-1	p.E152_splice	ATP2C2_uc002fhx.3_Splice_Site_p.E152_splice|ATP2C2_uc002fhy.3_Splice_Site_p.E169_splice|ATP2C2_uc002fhz.3_Intron	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	152					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			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						TTCCTGCCAGGAGTACAGGTC	0.522000														55			17		0	0	1	0	0
CCM2	83605	broad.mit.edu	37	7	45115434	45115434	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:45115434C>T	uc003tms.3	+	9	1247	c.1176C>T	c.(1174-1176)acC>acT	p.T392T	CCM2_uc003tmn.3_Non-coding_Transcript|CCM2_uc003tmo.3_Silent_p.T371T|CCM2_uc003tmp.3_Silent_p.T313T|CCM2_uc003tmr.3_Silent_p.T280T	NM_001029835	NP_001025006	Q9BSQ5	CCM2_HUMAN	Homo sapiens cerebral cavernous malformation 2 (CCM2), transcript variant 1, mRNA.	371					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCCTGGAGACCATTGGCGTGA	0.602000														58			40		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559236	1559236	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:1559236G>A	uc010gai.3	-	1	280	c.181C>T	c.(181-183)Cct>Tct	p.P61S	SIRPB1_uc002wfk.4_Missense_Mutation_p.P61S	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	61	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCCCCACAGGGATCAGGGAC	0.542000														78			33		0	0	1	0	0
SLC22A23	63027	broad.mit.edu	37	6	3284208	3284208	+	Splice_Site	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:3284208C>T	uc003mvm.3	-	9	1580	c.1580_splice	c.e9-1	p.G527_splice	AK096219_uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Splice_Site_p.G246_splice|SLC22A23_uc003mvo.3_Splice_Site_p.G246_splice|SLC22A23_uc003mvp.1_Splice_Site|SLC22A23_uc010jnn.3_Splice_Site_p.G527_splice	NM_015482	NP_068764	A1A5C7	S22AN_HUMAN	Homo sapiens solute carrier family 22, member 23 (SLC22A23), transcript variant 1, mRNA.	527					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TGTCACTCATCCCTGGGGGAA	0.602000														39			8		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439945	150439945	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:150439945G>A	uc022apw.1	+	5	1470	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.E240K	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		GGCCTGCCAGGAAGACTACAG	0.577000														129			33		0	0	1	0	0
UBL7	84993	broad.mit.edu	37	15	74751147	74751147	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:74751147G>A	uc002axw.1	-	1	224	c.62C>T	c.(61-63)tCt>tTt	p.S21F	UBL7_uc002axx.1_Missense_Mutation_p.S61F|UBL7_uc002axy.1_Missense_Mutation_p.S21F|UBL7_uc002axz.1_Missense_Mutation_p.S21F|LOC440288_uc002ayb.3_5'Flank|LOC440288_uc002aya.3_5'Flank	NM_032907	NP_957717	Q96S82	UBL7_HUMAN	Homo sapiens ubiquitin-like 7 (bone marrow stromal cell-derived) (UBL7), transcript variant 1, mRNA.	21	Ubiquitin-like.						protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CCGAAGAATAGACTTTGGAGT	0.498000														167			30		0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104206624	104206624	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:104206624G>A	uc001yof.1	-	11	2412	c.2129C>T	c.(2128-2130)tCc>tTc	p.S710F	PPP1R13B_uc010awv.1_Non-coding_Transcript|PPP1R13B_uc001yog.1_Missense_Mutation_p.S577F	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	710	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CTCTGTGATGGAGCTGCGCTT	0.662000														72			19		0	0	1	0	0
EMBP1	647121	broad.mit.edu	37	1	121306548	121306548	+	Silent	SNP	T	C	C			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:121306548T>C	uc009wht.1	+	0	125	c.96T>C	c.(94-96)caT>caC	p.H32H	EMBP1_uc001eiu.1_Non-coding_Transcript					Homo sapiens embigin pseudogene 1 (EMBP1), non-coding RNA.																		ACTGGTGCCATGCACTATTCC	0.403000														42			33		0	0	1	0	0
AGPAT9	84803	broad.mit.edu	37	4	84519319	84519319	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:84519319C>T	uc003how.3	+	10	1330	c.1112C>T	c.(1111-1113)cCc>cTc	p.P371L	AGPAT9_uc003hox.3_Missense_Mutation_p.P371L|AGPAT9_uc003hoy.3_Missense_Mutation_p.P371L	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	371					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				TACATGCCCCCCATGACCAGA	0.473000														89			11		0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24518562	24518562	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:24518562C>T	uc002rfe.2	-	13	1864	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	ITSN2_uc002rff.2_Missense_Mutation_p.E536K|ITSN2_uc002rfg.3_Missense_Mutation_p.E536K|ITSN2_uc010eyd.2_Missense_Mutation_p.E561K	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	536					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTTGATTTCCATAATTTCC	0.428000														29			50		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48556389	48556389	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:48556389C>T	uc003toq.2	+	51	13733	c.13709C>T	c.(13708-13710)tCc>tTc	p.S4570F	ABCA13_uc010kys.1_Missense_Mutation_p.S1645F|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.S300F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4570					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCTTTCATTTCCTATGTCTCA	0.408000														101			124		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216496828	216496828	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:216496828G>A	uc001hku.1	-	7	1925	c.1538C>T	c.(1537-1539)aCc>aTc	p.T513I	USH2A_uc001hkv.3_Missense_Mutation_p.T513I	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	513	Laminin N-terminal.				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)		CCCACTAATGGTGATTTCGTC	0.373000										HNSCC(13;0.011)				58			103		0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12318066	12318067	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:12318066_12318067TC>AT	uc001rah.4	-	7	1850_1851	c.1708_1709GA>AT	c.(1708-1710)gat>ATt	p.D570I	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.D570I	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	570	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AGGCAGCTGATCTATGATCACT	0.436000														146			94		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181706660	181706660	+	Splice_Site	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:181706660G>A	uc009wxt.3	+	23	3618	c.3423_splice	c.e23-1	p.P1141_splice	CACNA1E_uc001gow.3_Splice_Site_p.P1141_splice|CACNA1E_uc009wxs.3_Splice_Site_p.P1122_splice|CACNA1E_uc001gox.1_Splice_Site_p.P367_splice	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1141					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						ACTGCCCGCAGGATCCGGAGG	0.622000														44			16		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167626914	167626914	+	Missense_Mutation	SNP	C	T	T	rs113287543		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:167626914C>T	uc010jjd.3	+	16	3181	c.3181C>T	c.(3181-3183)Cgc>Tgc	p.R1061C	ODZ2_uc003lzr.4_Missense_Mutation_p.R838C|ODZ2_uc003lzt.4_Missense_Mutation_p.R434C|ODZ2_uc010jje.3_Missense_Mutation_p.R332C	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TGTGAAACTTCGCTATCTGAG	0.493000														145			35		0	0	1	0	0
KIAA0825	285600	broad.mit.edu	37	5	93859644	93859644	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:93859644G>A	uc011cuk.2	-	3	548	c.291C>T	c.(289-291)ttC>ttT	p.F97F	KIAA0825_uc003kkp.2_Silent_p.F97F	NM_001145678	NP_001139150	Q8IV33	K0825_HUMAN	Homo sapiens KIAA0825 (KIAA0825), transcript variant 1, mRNA.	97										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						CCAGTGTTTTGAAAAATTTTA	0.303000														19			4		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15967687	15967687	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:15967687C>T	uc010lsu.3	-	9	1381	c.1317G>A	c.(1315-1317)ggG>ggA	p.G439G	MSR1_uc003wwz.3_Silent_p.G421G|MSR1_uc003wxa.3_Silent_p.G358G	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	421	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATGATTCTCTCCCAAAACAAA	0.383000														52			35		0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24891394	24891394	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:24891394C>T	uc003aaf.3	+	0	1318	c.23C>T	c.(22-24)tCg>tTg	p.S8L	UPB1_uc003aae.3_5'UTR|C22orf45_uc002zzz.2_5'Flank|C22orf45_uc003aad.1_5'Flank	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	Homo sapiens ureidopropionase, beta (UPB1), mRNA.	8					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GAGTGGAAGTCGCTGGAGGAA	0.647000														56			32		0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4875598	4875599	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:4875598_4875599GG>AA	uc010cku.2	-	15	3217_3218	c.2805_2806CC>TT	c.(2803-2808)gccctc>gcTTtc	p.L936F	CAMTA2_uc002gag.2_Missense_Mutation_p.L912F|CAMTA2_uc002gah.2_Missense_Mutation_p.L913F|CAMTA2_uc002gai.2_Missense_Mutation_p.L915F|CAMTA2_uc010ckv.1_Missense_Mutation_p.L560F	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	913					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	p.L913F(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCTGGTGGGAGGGCAGGAAGGG	0.599000														98			8		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13868073	13868074	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:13868073_13868074CC>TT	uc003jfd.2	-	24	3904_3905	c.3862_3863GG>AA	c.(3862-3864)gga>AAa	p.G1288K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1288	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATCAGAAGTCCATATCTGTTA	0.391000									Kartagener syndrome					63			5		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412047	51412047	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:51412047C>T	uc001nhi.2	-	0	402	c.349G>A	c.(349-351)Gcc>Acc	p.A117T		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CGATCACAGGCCATCACCACC	0.473000														20			39		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210557805	210557805	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:210557805G>A	uc002vde.1	+	6	1159	c.911G>A	c.(910-912)tGg>tAg	p.W304*	MAP2_uc002vdc.1_Nonsense_Mutation_p.W304*|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Nonsense_Mutation_p.W300*	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	304					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.W304L(2)|p.W304C(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATCCCAAAATGGGAAGGGAAA	0.438000														51			15		0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	69064838	69064838	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:69064838C>T	uc003tvw.4	+	0	934	c.199C>T	c.(199-201)Ccg>Tcg	p.P67S	AUTS2_uc003tvv.4_Missense_Mutation_p.P67S|AUTS2_uc003tvx.4_Missense_Mutation_p.P67S	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	67										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GTCCTCCGCCCCGTCCCGGCC	0.677000														22			13		0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46415394	46415394	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:46415394G>A	uc003cpo.4	+	2	1123	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	CCR5_uc010hjd.3_Missense_Mutation_p.R334Q|CCR5_uc021wxb.1_Missense_Mutation_p.R334Q	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	334					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity	p.R334Q(2)		central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GCTCCCGAGCGAGCAAGCTCA	0.512000														114			59		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117819628	117819628	+	Silent	SNP	G	A	A	rs138726121		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:117819628G>A	uc004bjj.4	-	14	4795	c.4383C>T	c.(4381-4383)acC>acT	p.T1461T	TNC_uc010mvf.3_Intron|TNC_uc022bmj.1_Silent_p.T1097T	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1461	Fibronectin type-III 10.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGATCCCATCGGTAGCCATCC	0.433000														152			28		0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41227212	41227212	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:41227212G>A	uc001zng.2	+	7	1473	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA.	379	EGF-like 5.				Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation	integral to membrane|plasma membrane	Notch binding|calcium ion binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCTGCCGGGAGCGCAACCAGG	0.612000														90			22		0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150960629	150960629	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:150960629C>T	uc001ewa.2	+	10	1230	c.760C>T	c.(760-762)Cat>Tat	p.H254Y		NM_003568	NP_003559	O76027	ANXA9_HUMAN	Homo sapiens annexin A9 (ANXA9), mRNA.	254					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAACCGTTTCCATGGAGATGC	0.542000														115			18		0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39544347	39544347	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr13:39544347C>T	uc001uwx.3	-	4	629	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	STOML3_uc010tez.2_Missense_Mutation_p.R155Q	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	164						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		GATCTCTTCTCGTCCAGCTAA	0.408000														131			9		0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131624122	131624122	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:131624122C>T	uc011blq.2	-	1	330	c.220G>A	c.(220-222)Ggg>Agg	p.G74R	CPNE4_uc003eok.3_Missense_Mutation_p.G56R|CPNE4_uc003eol.3_Missense_Mutation_p.G74R|CPNE4_uc003eom.3_Missense_Mutation_p.G56R	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	56	C2 1.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AACCACTGCCCATGAGACTGC	0.463000														93			19		0	0	1	0	0
C1orf226	400793	broad.mit.edu	37	1	162351847	162351847	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:162351847G>A	uc010pkt.1	+	1	293	c.285G>A	c.(283-285)aaG>aaA	p.K95K	C1orf226_uc001gby.2_Silent_p.K52K	NM_001135240	NP_001128712	A1L170	CA226_HUMAN	Homo sapiens chromosome 1 open reading frame 226 (C1orf226), transcript variant 1, mRNA.	52										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						AGCACCTCAAGAACCTGGGCA	0.637000														30			9		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5038536	5038536	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:5038536G>A	uc002gau.1	+	15	2732	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	USP6_uc002gav.1_Missense_Mutation_p.E168K|USP6_uc010ckz.1_5'UTR|DQ575687_uc021toi.1_5'Flank|DQ570124_uc002gba.3_5'Flank|DQ576627_uc002gbb.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	168	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TAGGCAGAGGGAACTATTCTA	0.468000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									158			16		0	0	1	0	0
ZNF570	148268	broad.mit.edu	37	19	37975717	37975717	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:37975717A>C	uc010efl.1	+	5	1480	c.1361A>C	c.(1360-1362)aAt>aCt	p.N454T	ZNF570_uc002ogk.1_Missense_Mutation_p.N398T|ZNF570_uc010xtr.1_Missense_Mutation_p.N195T	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTAGCCAGAATTCACACCTT	0.423000														68			54		0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114201748	114201748	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:114201748C>T	uc001edk.3	+	15	2857	c.2676C>T	c.(2674-2676)gaC>gaT	p.D892D	MAGI3_uc001edh.3_Silent_p.D917D|MAGI3_uc001edi.4_Silent_p.D892D|MAGI3_uc010owm.2_Silent_p.D917D|MAGI3_uc001edj.3_Silent_p.D613D	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	917	Interaction with LPAR2 and GRIN2B.|PDZ 5.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	p.D892H(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCCGGCTGACCGCTGTGGAA	0.398000														129			15		0	0	1	0	0
GJC3	349149	broad.mit.edu	37	7	99521204	99521204	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:99521204C>T	uc011kjd.2	-	1	804	c.804G>A	c.(802-804)caG>caA	p.Q268Q		NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN	Homo sapiens gap junction protein, gamma 3, 30.2kDa (GJC3), mRNA.	268						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					tttgtttttcctgggctaagc	0.423000														65			9		0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83224829	83224829	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:83224829G>A	uc002bit.3	-	4	967	c.830C>T	c.(829-831)tCa>tTa	p.S277L	CPEB1_uc002bir.3_Missense_Mutation_p.S142L|CPEB1_uc002bis.3_Missense_Mutation_p.S142L|CPEB1_uc010uod.2_5'UTR|CPEB1_uc002biq.3_Missense_Mutation_p.S142L|CPEB1_uc010uoe.2_Missense_Mutation_p.S220L|CPEB1_uc002biu.3_Missense_Mutation_p.S244L|CPEB1_uc010uof.2_Missense_Mutation_p.S142L|CPEB1_uc002biv.3_Missense_Mutation_p.S217L|CPEB1_uc002bip.3_5'UTR	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	217					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACCACCCCCTGACAGAGACAG	0.512000														25			5		0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50161586	50161586	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:50161586C>T	uc002poq.3	+	10	3993	c.3869C>T	c.(3868-3870)cCc>cTc	p.P1290L	Mir_324_uc021uxt.1_5'Flank	NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	1290	Necessary for interaction with the CTD domain of POLR2A.|Pro-rich.				RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCCCCAGGGCCCCCACGGCCG	0.701000														5			8		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7765479	7765479	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:7765479C>T	uc001ijs.3	+	8	1095	c.933C>T	c.(931-933)atC>atT	p.I311I		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	311	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCAAAAACATCCTCTTTGTCA	0.418000														78			20		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296339	20296339	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:20296339C>T	uc010tkv.2	+	0	732	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACCCATATCATTGTTATAT	0.493000														87			49		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238243356	238243356	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:238243356G>A	uc002vwl.2	-	40	9427	c.9142C>T	c.(9142-9144)Ctg>Ttg	p.L3048L	COL6A3_uc002vwo.2_Silent_p.L2842L|COL6A3_uc010znj.1_Silent_p.L2441L|COL6A3_uc002vwj.2_Silent_p.L429L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	3048	Fibronectin type-III.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCAGCGAGCAGGCCTCCAATG	0.547000														38			15		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42340052	42340052	+	Missense_Mutation	SNP	C	T	T	rs56366151		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:42340052C>T	uc002igf.4	-	2	207	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	SLC4A1_uc021tyc.1_Missense_Mutation_p.E20K	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	20					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCTTCATATTCCTCCTGCTCC	0.597000														26			25		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34238290	34238290	+	Silent	SNP	G	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:34238290G>T	uc001bxm.1	-	12	1903	c.1726C>A	c.(1726-1728)Cgg>Agg	p.R576R	CSMD2_uc001bxn.1_Silent_p.R536R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	536	Sushi 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGTGAAACCGGGAGCCTTCC	0.537000														73			13		1.52009e-12	1.55027e-12	1	1	0
ILDR1	286676	broad.mit.edu	37	3	121724190	121724190	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:121724190C>T	uc003ees.3	-	2	483	c.280G>A	c.(280-282)Gac>Aac	p.D94N	ILDR1_uc003eeq.3_Missense_Mutation_p.D106N|ILDR1_uc003eer.3_Missense_Mutation_p.D94N|ILDR1_uc010hrg.3_Missense_Mutation_p.D94N	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	94	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CGCTGGTTGTCGTTGCAGTCA	0.597000														39			7		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1043227	1043227	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:1043227C>T	uc002lqw.4	+	7	998	c.767C>T	c.(766-768)tCc>tTc	p.S256F	ABCA7_uc010dsb.1_Missense_Mutation_p.S118F	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	256					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GAGCCAGAATCCGCCCTGCCA	0.642000														65			61		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412232	51412232	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:51412232G>A	uc001nhi.2	-	0	217	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	55				GSP -> CSA (in Ref. 1; BAC05754).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ATACATTGGGGAACCCAAGGA	0.408000														45			15		0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39166621	39166621	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:39166621G>A	uc003cjc.2	+	9	1362	c.1185G>A	c.(1183-1185)aaG>aaA	p.K395K	TTC21A_uc011ayx.1_Silent_p.K346K|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	395							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AATTCCTGAAGGAGGTGCAGA	0.532000											OREG0015487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		73			12		0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113848644	113848644	+	Splice_Site	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:113848644G>A	uc010rxb.2	+	2	470	c.237_splice	c.e2+1	p.V79_splice	HTR3A_uc010rxa.2_Splice_Site_p.V79_splice|HTR3A_uc009yyx.3_Splice_Site|HTR3A_uc010rxc.2_Splice_Site_p.V58_splice	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	73					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCCTCAACGTGGTGAGGCTCA	0.562000														23			42		0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47564916	47564916	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:47564916G>A	uc001cqu.1	+	7	1030	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	343						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ATGCCGAGATGAAATCAGGGA	0.438000														44			12		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801778	185801778	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:185801778C>T	uc002uph.3	+	3	2249	c.1655C>T	c.(1654-1656)tCc>tTc	p.S552F		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	552						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						AAAAACATTTCCTGTAAGATC	0.338000														8			36		0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287923	46287923	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr13:46287923C>T	uc001van.1	+	2	843	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	SPERT_uc001vao.2_Missense_Mutation_p.R219C	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	255						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GGAGGAGAATCGCGCGCTGCA	0.687000														16			5		0	0	1	0	0
ADK	132	broad.mit.edu	37	10	76468125	76468125	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:76468125C>T	uc001jwi.3	+	10	1105	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	ADK_uc010qlb.2_Silent_p.I280I|ADK_uc001jwj.3_Silent_p.I320I|ADK_uc010qlc.2_Silent_p.I302I	NM_006721	NP_006712	P55263	ADK_HUMAN	Homo sapiens adenosine kinase (ADK), transcript variant 2, mRNA.	337					purine base metabolic process|purine ribonucleoside salvage	cytosol	ATP binding|adenosine kinase activity|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	CTGAATGTATCCGTGCTGGCC	0.453000														51			46		0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150701675	150701675	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:150701675G>A	uc003lty.3	-	8	1242	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Missense_Mutation_p.S173F|SLC36A2_uc010jhv.2_Missense_Mutation_p.S371F	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	371					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACACCCGGGAGATGGCAAA	0.547000														83			14		0	0	1	0	0
KLC3	147700	broad.mit.edu	37	19	45853671	45853671	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:45853671G>A	uc002pbg.1	+	7	1358	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N	KLC3_uc002pbf.1_Missense_Mutation_p.D406N|KLC3_uc010ejy.1_Missense_Mutation_p.D405N	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	Homo sapiens kinesin light chain 3 (KLC3), mRNA.	406						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCACAAGGAGGACCTACCCGC	0.562000														61			16		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42110405	42110405	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:42110405C>T	uc001zok.4	+	18	2298	c.2012C>T	c.(2011-2013)cCc>cTc	p.P671L	MAPKBP1_uc010bci.3_Missense_Mutation_p.P665L|MAPKBP1_uc010udb.2_Missense_Mutation_p.P504L|MAPKBP1_uc001zoj.4_Missense_Mutation_p.P665L|MAPKBP1_uc010bcj.3_Missense_Mutation_p.P172L|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Missense_Mutation_p.P172L	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	671										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CAGACAGACCCCTCAGGGATC	0.582000														64			12		0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678312	87678312	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:87678312G>A	uc002fkd.3	+	1	1085	c.831G>A	c.(829-831)gaG>gaA	p.E277E	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	277					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGGTCATCGAGGACGACATCG	0.667000														53			11		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139906601	139906601	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:139906601G>A	uc004ckm.1	-	33	5450	c.5400C>T	c.(5398-5400)acC>acT	p.T1800T	ABCA2_uc022bpy.1_Silent_p.T1701T|ABCA2_uc022bpz.1_Silent_p.T1771T|ABCA2_uc011mem.1_Silent_p.T1770T|ABCA2_uc004ckl.1_Silent_p.T1701T	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1770					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGGGGTGGTTGGTGACGGTGA	0.721000														23			25		0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49703917	49703918	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:49703917_49703918CC>TT	uc002pmw.3	+	18	2936_2937	c.2828_2829CC>TT	c.(2827-2829)gcc>gTT	p.A943V	TRPM4_uc010emu.3_Missense_Mutation_p.A798V|TRPM4_uc010yak.2_Missense_Mutation_p.A407V|TRPM4_uc002pmx.3_Missense_Mutation_p.A769V|TRPM4_uc010emv.3_Missense_Mutation_p.A828V|TRPM4_uc010yal.2_Missense_Mutation_p.A589V|TRPM4_uc002pmy.3_Missense_Mutation_p.A285V	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	943					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGGCTGGTAGCCTATGGCGTGG	0.624000														49			17		0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100919807	100919807	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:100919807G>A	uc004aym.3	-	1	252	c.136C>T	c.(136-138)Cac>Tac	p.H46Y	CORO2A_uc004ayl.3_Missense_Mutation_p.H46Y|CORO2A_uc004ayn.2_Missense_Mutation_p.H46Y	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	46					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GCAATGAAGTGGGGGTTCACG	0.587000														47			16		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183278	13183278	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:13183278C>T	uc010obg.2	-	1	838	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	199						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TCCAGGTTTTCCAGGAGAGAA	0.438000														229			167		0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39122148	39122148	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:39122148C>T	uc003awg.3	+	6	1365	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F		NM_004286	NP_004277	O00178	GTPB1_HUMAN	Homo sapiens GTP binding protein 1 (GTPBP1), mRNA.	404					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GACACCTACTCCGTCCCGGTA	0.592000														65			20		0	0	1	0	0
C15orf29	79768	broad.mit.edu	37	15	34434548	34434548	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:34434548A>C	uc001zhp.3	-	9	1067	c.907T>G	c.(907-909)Tta>Gta	p.L303V		NM_024713	NP_078989	Q9H079	CO029_HUMAN	Homo sapiens chromosome 15 open reading frame 29 (C15orf29), mRNA.	303						nucleolus				kidney(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	5		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)		TCTCAATGTAACTGTAATAAA	0.279000														34			16		0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33603426	33603427	+	Missense_Mutation	DNP	TG	GA	GA			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:33603426_33603427TG>GA	uc002nug.1	+	12	2113_2114	c.1799_1800TG>GA	c.(1798-1800)atg>aGA	p.M600R	GPATCH1_uc002nuh.1_5'Flank	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	600						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GCTGTGAAGATGAAGATGTTTG	0.480000														123			22		0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16527755	16527755	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:16527755C>T	uc010cpi.2	-	5	537	c.445G>A	c.(445-447)Gag>Aag	p.E149K	ZNF624_uc021tre.1_Missense_Mutation_p.E23K	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGTATGGCCTCCTGTGATAAA	0.393000														111			19		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135510	55135510	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:55135510G>A	uc010rif.2	+	0	151	c.151G>A	c.(151-153)Ggg>Agg	p.G51R		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E50E(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GAACCCTGAGGGGCAAAAGGT	0.448000														54			17		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74008121	74008121	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:74008121G>T	uc010wss.1	-	18	2717	c.2489C>A	c.(2488-2490)tCc>tAc	p.S830Y	EVPL_uc002jqi.2_Missense_Mutation_p.S808Y|EVPL_uc010wst.1_Missense_Mutation_p.S278Y	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	808	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGAGAGGTGGGATGCTGTGGC	0.627000														9			3		0.00024832	0.000249646	1	1	0
CHRNB3	1142	broad.mit.edu	37	8	42586852	42586852	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:42586852C>T	uc003xpi.1	+	4	530	c.402C>T	c.(400-402)atC>atT	p.I134I		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	134					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.I134I(2)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCAAGGTCATCGTGAAATCAA	0.532000														44			10		0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144808695	144808695	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:144808695C>T	uc003yzk.3	-	4	3005	c.2936G>A	c.(2935-2937)cGg>cAg	p.R979Q		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	979					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCCATGCGCCGCTCGCCCTT	0.706000														25			6		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75097586	75097586	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:75097586C>T	uc001dgg.3	-	6	849	c.630G>A	c.(628-630)agG>agA	p.R210R	C1orf173_uc001dgi.4_Silent_p.R4R	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	210										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTATGGAGTTCCTGAACTTCA	0.393000														67			17		0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31415947	31415947	+	Silent	SNP	G	A	A	rs138635070		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:31415947G>A	uc002hht.3	-	2	1794	c.921C>T	c.(919-921)ttC>ttT	p.F307F	ASIC2_uc002hhu.3_Silent_p.F256F	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	256					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCTCTTGGATGAAAGGTGGCT	0.532000														53			6		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113163263	113163263	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:113163263G>A	uc010mtz.3	-	39	10030	c.9693C>T	c.(9691-9693)ttC>ttT	p.F3231F	SVEP1_uc010mty.3_Silent_p.F1157F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3231	Sushi 30.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATTCATCGGAGAATGGTGGCT	0.358000														11			30		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108875248	108875248	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:108875248C>T	uc010ywo.2	+	4	585	c.585C>T	c.(583-585)caC>caT	p.H195H		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	195						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAGACATGCACCGGATCCTCT	0.463000														53			10		0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97096831	97096831	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:97096831G>A	uc001kkp.3	-	27	3131	c.3086C>T	c.(3085-3087)cCc>cTc	p.P1029L	SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.P983L|SORBS1_uc010qoe.2_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	1029					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGACAGGGAGGGACTGGCCCT	0.592000														31			5		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200950211	200950211	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:200950211G>A	uc001gvs.2	-	28	4173	c.3856C>T	c.(3856-3858)Ccg>Tcg	p.P1286S	KIF21B_uc009wzl.2_Missense_Mutation_p.P1286S|KIF21B_uc001gvr.2_Missense_Mutation_p.P1273S|KIF21B_uc010ppn.2_Missense_Mutation_p.P1273S	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1286					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCTCCAACCGGGGAGATGATG	0.637000														92			8		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100663452	100663452	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:100663452G>A	uc003uxp.1	+	0	89	c.36G>A	c.(34-36)ctG>ctA	p.L12L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	12						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGTGTCTGCTGACCTTGGTCC	0.657000														27			37		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126220688	126220688	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:126220688C>T	uc010hsi.2	-	9	1060	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	UROC1_uc003eiz.2_Intron	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	0					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CACCTCCCCTCCCCCAGGGGT	0.612000														64			14		0	0	1	0	0
CDK1	983	broad.mit.edu	37	10	62551976	62551976	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:62551976C>T	uc001jld.3	+	6	866	c.724C>T	c.(724-726)Ccc>Tcc	p.P242S	CDK1_uc001jlg.3_Missense_Mutation_p.P185S|CDK1_uc001jle.3_Non-coding_Transcript	NM_001786	NP_001777	P06493	CDK1_HUMAN	Homo sapiens cyclin-dependent kinase 1 (CDK1), transcript variant 1, mRNA.	242	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|regulation of transcription involved in G1/S phase of 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	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity			ovary(1)	1						GAATACATTTCCCAAATGGAA	0.393000														83			10		0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50341481	50341481	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:50341481G>A	uc004dpe.2	-	7	4023	c.3997C>T	c.(3997-3999)Cga>Tga	p.R1333*	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1333	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AGCAGCCCTCGCTGGGCCTCC	0.478000														2			11		0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1905370	1905370	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:1905370C>T	uc003wpr.3	+	28	4154	c.3976C>T	c.(3976-3978)Cac>Tac	p.H1326Y	ARHGEF10_uc003wps.3_Missense_Mutation_p.H1288Y|ARHGEF10_uc010lre.3_Missense_Mutation_p.H977Y	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	1351					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCGGCAGCCCCACCAGGAAGA	0.632000														12			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065406	9065406	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:9065406G>A	uc002mkp.3	-	2	22244	c.22040C>T	c.(22039-22041)aCc>aTc	p.T7347I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7349	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						GGAGGGAGTGGTTGATGTGTC	0.483000														36			39		0	0	1	0	0
BC101079	0	broad.mit.edu	37	15	102292765	102292765	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:102292765C>T	uc010usj.2	+	3	412	c.353C>T	c.(352-354)gCg>gTg	p.A118V	DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		GGCACAGCGGCGCGACGAGAT	0.602000														22			5		0	0	1	0	0
GZMM	3004	broad.mit.edu	37	19	549118	549118	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:549118G>A	uc002low.1	+	3	590	c.545G>A	c.(544-546)tGg>tAg	p.W182*		NM_005317	NP_005308	P51124	GRAM_HUMAN	Homo sapiens granzyme M (lymphocyte met-ase 1) (GZMM), mRNA.	182	Peptidase S1.				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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)		AGCCGCTTCTGGAACGGCAGC	0.701000														5			3		0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219603529	219603529	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:219603529G>A	uc002viy.3	+	2	1500	c.1130G>A	c.(1129-1131)aGg>aAg	p.R377K	TTLL4_uc010zkl.1_Missense_Mutation_p.R212K|TTLL4_uc010fvx.3_Missense_Mutation_p.R377K	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	377					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AACAGGAGCAGGCGGTGGAAA	0.572000														90			24		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16003245	16003245	+	Splice_Site	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:16003245C>T	uc002nbs.1	-	5	448	c.398_splice	c.e5-1	p.G133_splice	CYP4F2_uc010xot.1_5'UTR|CYP4F2_uc010xou.1_Splice_Site	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	133					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGAGCCCATCCCCTAGCAGGG	0.592000														79			54		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248547	20248547	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:20248547G>A	uc010tku.2	+	0	66	c.66G>A	c.(64-66)gaG>gaA	p.E22E		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E22K(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGACTCGGGAGGTCCAACTAG	0.378000														108			65		0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170959143	170959143	+	Splice_Site	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:170959143G>A	uc010plz.2	+	11	1182	c.1028_splice	c.e11+1	p.D343_splice	C1orf129_uc001ghg.3_Splice_Site_p.D343_splice|C1orf129_uc009wvy.3_Splice_Site_p.D150_splice	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	343							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCCAGCAGACGAGTAAGGCCC	0.488000														53			18		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834273	101834273	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:101834273G>A	uc003knn.3	-	0	448	c.276C>T	c.(274-276)ggC>ggT	p.G92G	SLCO6A1_uc003kno.3_Silent_p.G92G|SLCO6A1_uc003knp.3_Silent_p.G92G|SLCO6A1_uc003knq.3_Silent_p.G92G	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	92	Cys-rich.					integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGACTAAGCAGCCCAAACCAC	0.498000														147			19		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176309025	176309025	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:176309025C>T	uc003mfa.3	-	15	2249	c.2157G>A	c.(2155-2157)ggG>ggA	p.G719G	HK3_uc003mez.3_Silent_p.G275G	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	719	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)			AGCCATCGTCCCCAAAGGCGC	0.647000														80			55		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133882003	133882003	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:133882003C>T	uc003ytw.3	+	2	247	c.206C>T	c.(205-207)tCc>tTc	p.S69F		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	69	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.R68G(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GACGGCCGCTCCTGCTGGTGT	0.662000														25			24		0	0	1	0	0
OR52W1	120787	broad.mit.edu	37	11	6220759	6220759	+	Silent	SNP	C	T	T	rs141444024	byFrequency	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:6220759C>T	uc010qzz.2	+	0	306	c.306C>T	c.(304-306)tgC>tgT	p.C102C		NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily W, member 1 (OR52W1), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTGTGTGCCTGGTCCAGA	0.582000														54			4		0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156516853	156516853	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:156516853G>A	uc010lqn.3	-	15	1516	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	LMBR1_uc003wmv.4_Missense_Mutation_p.S241F|LMBR1_uc003wmw.4_Missense_Mutation_p.S393F|LMBR1_uc003wmx.4_Missense_Mutation_p.S241F|LMBR1_uc011kvx.2_Missense_Mutation_p.S372F	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	393						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		AACCAAGATGGACACACAATT	0.378000														57			9		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101528919	101528919	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:101528919C>T	uc002bwr.3	+	4	833	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bwq.1_Silent_p.L172L	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	172					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTGAAGCTCCTGGTCCTGAC	0.632000														95			13		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520801	33520801	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:33520801C>T	uc002hjd.2	-	0	612	c.526G>A	c.(526-528)Gga>Aga	p.G176R		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	176						integral to membrane											GTCCAGAGTCCAGGTCCCACA	0.607000														246			56		0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397652	125397652	+	Silent	SNP	T	C	C	rs146795524		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:125397652T>C	uc001ugs.4	-	1	1124	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_uc001ugr.3_5'Flank|UBC_uc001ugt.3_Silent_p.V222V|UBC_uc001ugu.1_Silent_p.V222V|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Silent_p.V222V|UBC_uc001ugw.3_Silent_p.V70V	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	222	Ubiquitin-like 3.				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			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)		TGAGACGGAGTACCAGGTGCA	0.512000														27			4		0	0	1	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084283	26084283	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:26084283C>T	uc002wvj.4	-	1	188	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K						Homo sapiens nuclear receptor corepressor 1 pseudogene 1 (NCOR1P1), non-coding RNA.																		GATGGAGCTTCATGTTTGCCT	0.388000														80			5		0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44129352	44129352	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:44129352C>T	uc001mya.3	+	1	245	c.189C>T	c.(187-189)ttC>ttT	p.F63F	EXT2_uc010rfo.2_Silent_p.F58F|EXT2_uc009ykt.3_Silent_p.F30F|EXT2_uc001mxz.3_Silent_p.F30F	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	30					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCACCCTCTTCTCCATTGTCC	0.493000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses					79			91		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117655918	117655918	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:117655918C>T	uc001twn.2	-	28	5035	c.4324G>A	c.(4324-4326)Gaa>Aaa	p.E1442K	NOS1_uc021ren.1_Missense_Mutation_p.E1072K|NOS1_uc021reo.1_Missense_Mutation_p.E1072K|NOS1_uc001twm.2_Missense_Mutation_p.E1408K	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1408					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)	TTGGTCACTTCGTACGTTCGC	0.488000														56			225		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124761448	124761448	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:124761448C>T	uc001qbg.3	-	11	1835	c.1695G>A	c.(1693-1695)tgG>tgA	p.W565*	ROBO4_uc010sas.2_Nonsense_Mutation_p.W420*|ROBO4_uc001qbh.2_Nonsense_Mutation_p.W455*|ROBO4_uc001qbi.3_Nonsense_Mutation_p.W123*|ROBO4_uc010sat.1_Nonsense_Mutation_p.W123*	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	565					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TTCGGGAGTCCCAGGAGAGCA	0.597000														62			22		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34775677	34775677	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:34775677C>T	uc002xfb.3	+	7	1036	c.865C>T	c.(865-867)Cat>Tat	p.H289Y	EPB41L1_uc002xeu.3_Missense_Mutation_p.H227Y|EPB41L1_uc010zvo.1_Missense_Mutation_p.H289Y|EPB41L1_uc002xev.3_Missense_Mutation_p.H289Y|EPB41L1_uc002xew.3_Missense_Mutation_p.H192Y|EPB41L1_uc002xex.3_Missense_Mutation_p.H258Y|EPB41L1_uc002xey.3_Missense_Mutation_p.H216Y|EPB41L1_uc002xez.3_Missense_Mutation_p.H227Y	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	289	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGACCTGCACCATGCCAAGGT	0.552000														33			4		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677960	100677960	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:100677960G>A	uc003uxp.1	+	2	3316	c.3263G>A	c.(3262-3264)gGt>gAt	p.G1088D	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1088	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTGCTGACGGTACCAGCATG	0.507000														802			133		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33653892	33653892	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:33653892C>T	uc021ywr.1	+	41	5954	c.5730C>T	c.(5728-5730)ttC>ttT	p.F1910F		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1910					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CGCTGCAGTTCCTGGACATCA	0.587000														58			13		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96066279	96066280	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:96066279_96066280CC>TT	uc001kjk.3	+	25	6352_6353	c.5718_5719CC>TT	c.(5716-5721)ttccgc>ttTTgc	p.R1907C	PLCE1_uc010qnx.2_Missense_Mutation_p.R1891C|PLCE1_uc001kjm.3_Missense_Mutation_p.R1599C|PLCE1_uc001kjp.3_Missense_Mutation_p.R265C	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1907	C2.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCTGCCATTTCCGCACAAAGCC	0.510000														38			56		0	0	1	0	0
SETMAR	6419	broad.mit.edu	37	3	4354724	4354724	+	Missense_Mutation	SNP	C	T	T	rs145940333		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:4354724C>T	uc011asp.2	+	1	366	c.299C>T	c.(298-300)tCa>tTa	p.S100L	SUMF1_uc003bps.2_Intron|SETMAR_uc003bpw.4_Missense_Mutation_p.S87L|SETMAR_uc011asq.2_Missense_Mutation_p.S100L|SETMAR_uc003bpy.4_Intron|SETMAR_uc011asr.2_5'UTR|SETMAR_uc010hbx.3_5'UTR	NM_006515	NP_006506	Q53H47	SETMR_HUMAN	Homo sapiens SET domain and mariner transposase fusion gene (SETMAR), transcript variant 1, mRNA.	87	Histone-lysine N-methyltransferase.|Pre-SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GATGATAACTCATGCCTTAGA	0.488000								Chromatin Structure						73			14		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204985598	204985599	+	Missense_Mutation	DNP	GG	AA	AA	rs148890529	byFrequency	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:204985598_204985599GG>AA	uc010prc.2	+	26	3683_3684	c.2154_2155GG>AA	c.(2152-2157)aaggag>aaAAag	p.E719K	NFASC_uc001hbj.3_Missense_Mutation_p.E1219K|NFASC_uc010pra.2_Missense_Mutation_p.E1153K|NFASC_uc001hbi.3_Missense_Mutation_p.E1148K|NFASC_uc010prb.2_Missense_Mutation_p.E1168K|NFASC_uc001hbl.2_Missense_Mutation_p.E295K|NFASC_uc001hbm.2_Missense_Mutation_p.E242K|NFASC_uc009xbh.2_Missense_Mutation_p.R73K|NFASC_uc001hbo.2_Missense_Mutation_p.R94K			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	1326	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAAAGGACAAGGAGGAAACAGA	0.569000														112			17		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452050	138452050	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:138452050T>C	uc003ihe.4	-	0	1580	c.1193A>G	c.(1192-1194)aAg>aGg	p.K398R	PCDH18_uc003ihf.4_Missense_Mutation_p.K391R|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.K178R|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	398	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCCATGAAGCTTACAAACTAT	0.343000														104			14		0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26851062	26851062	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:26851062G>A	uc010crm.3	+	1	273	c.75G>A	c.(73-75)ggG>ggA	p.G25G	FOXN1_uc002hbj.3_Silent_p.G25G	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	25					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AGCGCCAAGGGGACCTCATGC	0.682000														25			4		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182402931	182402931	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:182402931C>T	uc002unx.3	-	13	1758	c.1657G>A	c.(1657-1659)Gaa>Aaa	p.E553K	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.E527K|CERKL_uc010zfm.2_Missense_Mutation_p.E509K|CERKL_uc002unz.3_Missense_Mutation_p.E275K|CERKL_uc002uoa.3_Missense_Mutation_p.E458K|CERKL_uc002uob.3_Missense_Mutation_p.E275K|CERKL_uc002uoc.3_Missense_Mutation_p.E414K|CERKL_uc021vth.1_Missense_Mutation_p.E322K|CERKL_uc021vti.1_Missense_Mutation_p.E275K|CERKL_uc021vtj.1_Missense_Mutation_p.E230K|CERKL_uc021vtk.1_Missense_Mutation_p.E275K|CERKL_uc021vtl.1_Missense_Mutation_p.E230K|CERKL_uc021vtm.1_Missense_Mutation_p.E322K|CERKL_uc002uod.2_Missense_Mutation_p.E322K|CERKL_uc002unw.3_Missense_Mutation_p.E123K	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	553					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATCATTTCTTCCATGCTTCCT	0.299000														24			5		0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323426	29323426	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:29323426G>A	uc011dlo.2	-	0	629	c.547C>T	c.(547-549)Cct>Tct	p.P183S		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183H(1)		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						ATCAGCAAAGGGGGGATGTCA	0.463000														127			20		0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	128077182	128077182	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:128077182C>T	uc003eki.3	+	5	1604	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	522						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						ACAGTGCCTTCGGCCAGAGCG	0.577000														46			25		0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91352383	91352383	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:91352383T>G	uc002bpr.3	+	19	3865	c.3768T>G	c.(3766-3768)gaT>gaG	p.D1256E	BLM_uc010uqh.2_Missense_Mutation_p.D1256E|BLM_uc010uqi.2_Missense_Mutation_p.D881E|BLM_uc010bnx.3_Missense_Mutation_p.D1125E	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	1256	HRDC.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TATCTTCTGATCCTGAGGTTT	0.363000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					139			24		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361003	107361003	+	Missense_Mutation	SNP	G	A	A	rs75216399	byFrequency	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:107361003G>A	uc011lvp.2	-	0	692	c.692C>T	c.(691-693)tCg>tTg	p.S231L		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S231L(2)|p.S230F(1)|p.S230Y(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TCTCCCCTCCGAAGAGCTAAT	0.423000														46			68		0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143054427	143054427	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:143054427C>T	uc010lpa.3	-	5	700	c.556G>A	c.(556-558)Gag>Aag	p.E186K	FAM131B_uc010loz.3_Missense_Mutation_p.E126K|FAM131B_uc003wct.3_Missense_Mutation_p.E158K|FAM131B_uc003wcu.4_Missense_Mutation_p.E158K	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	158										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CCCAATGGCTCCTGGGTGGAG	0.542000														194			14		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26224808	26224808	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:26224808A>G	uc003abz.1	+	14	3102	c.2852A>G	c.(2851-2853)aAc>aGc	p.N951S	MYO18B_uc003aca.1_Missense_Mutation_p.N832S|MYO18B_uc010guy.1_Missense_Mutation_p.N832S|MYO18B_uc010guz.1_Missense_Mutation_p.N832S|MYO18B_uc011aka.1_Missense_Mutation_p.N105S|MYO18B_uc011akb.1_Missense_Mutation_p.N464S	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	951	Myosin head-like.					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						GGCTTCCAGAACCCCCGGCAC	0.592000														66			11		0	0	1	0	0
CDT1	81620	broad.mit.edu	37	16	88873512	88873512	+	Silent	SNP	C	T	T	rs143599393	byFrequency	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:88873512C>T	uc002flu.3	+	7	1230	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	Homo sapiens chromatin licensing and DNA replication factor 1 (CDT1), mRNA.	392					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CCAGCAGCCCCGGGTCTCCCA	0.667000														46			6		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65486411	65486411	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:65486411C>T	uc011moz.2	+	20	3673	c.3536C>T	c.(3535-3537)gCt>gTt	p.A1179V	HEPH_uc004dwn.3_Missense_Mutation_p.A1127V|HEPH_uc004dwo.3_Missense_Mutation_p.A858V|HEPH_uc010nkr.3_Missense_Mutation_p.A936V|HEPH_uc011mpa.2_Missense_Mutation_p.A1128V	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1125					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTTGTTCTGGCTCTTGGTGGA	0.483000														6			41		0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455692	187455692	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:187455692G>A	uc003izd.1	-	1	222	c.204C>T	c.(202-204)agC>agT	p.S68S		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	68					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	CCACCGCTAAGCTCACCACAA	0.463000														46			30		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10450801	10450801	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:10450801C>T	uc010coi.3	-	3	467	c.339G>A	c.(337-339)tgG>tgA	p.W113*	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Nonsense_Mutation_p.W113*|MYH2_uc010coj.3_Nonsense_Mutation_p.W113*	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	113	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(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGTAGATCATCCAGGCTGCAT	0.478000														160			106		0	0	1	0	0
DQ572309	0	broad.mit.edu	37	17	18304183	18304183	+	Splice_Site	SNP	A	G	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:18304183A>G	uc002gtp.3	-	1		c.1_splice	c.e1-1		DQ595299_uc021trq.1_5'Flank|DQ593368_uc021trs.1_5'Flank|DQ578661_uc021trt.1_5'Flank|DQ573130_uc002gto.3_5'Flank|DQ579174_uc021tru.1_5'Flank					Homo sapiens piRNA piR-40226, complete sequence.																		CAGTTCTTCCATACCTGGGCC	0.552000														195			90		0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7509310	7509310	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:7509310C>T	uc002mgi.3	+	3	1270	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	ARHGEF18_uc010xjm.1_Silent_p.I181I|ARHGEF18_uc002mgh.3_Silent_p.I181I|ARHGEF18_uc002mgj.1_5'Flank	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	339	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				ATTATGTCATCCAGAAAATCG	0.572000														40			24		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325157	79325157	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:79325157G>A	uc010mpk.3	-	7	2157	c.2033C>T	c.(2032-2034)tCt>tTt	p.S678F	PRUNE2_uc022bih.1_Missense_Mutation_p.S500F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	678					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGGAAAACAGATTCCTGTTC	0.483000														14			31		0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6183189	6183189	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:6183189C>T	uc002mef.1	+	9	1455	c.1228C>T	c.(1228-1230)Cta>Tta	p.L410L	ACSBG2_uc002mee.1_Silent_p.L223L|ACSBG2_uc002meg.1_Silent_p.L410L|ACSBG2_uc002meh.1_Silent_p.L410L|ACSBG2_uc002mei.1_Silent_p.L360L|ACSBG2_uc010xiz.1_Silent_p.L410L	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	410					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGAGTTCTTTCTAAGCTTGGA	0.493000														80			53		0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113775239	113775239	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:113775239C>T	uc003eax.3	-	0	222	c.75G>A	c.(73-75)agG>agA	p.R25R	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Missense_Mutation_p.E64K|KIAA1407_uc011bip.1_Silent_p.R25R|QTRTD1_uc003eay.3_5'Flank|QTRTD1_uc003eaz.3_5'Flank|QTRTD1_uc011biq.2_5'Flank|QTRTD1_uc011bir.2_5'Flank	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	25										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GACTCGGCTTCCTTGTGAACC	0.597000														131			26		0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91365690	91365690	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:91365690C>T	uc001xys.2	-	11	1671	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	RPS6KA5_uc010twi.1_Missense_Mutation_p.E407K|RPS6KA5_uc001xyt.3_Missense_Mutation_p.E486K	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	486	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TGAAAAACTTCATGCAACTTC	0.383000														42			22		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287555	16287555	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:16287555C>T	uc010gqp.2	-	0	383	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	111										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTGCCGCTCCCCCTGCAGCAG	0.587000														342			133		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92268712	92268712	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:92268712G>A	uc001xzu.4	-	3	546	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	TC2N_uc001xzt.4_Nonsense_Mutation_p.Q119*|TC2N_uc010auc.3_Nonsense_Mutation_p.Q119*|TC2N_uc001xzv.4_Nonsense_Mutation_p.Q119*	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	119						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GGTCCGTGCTGGGATGAACTG	0.418000														56			10		0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783141	115783141	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:115783141G>A	uc003krx.4	-	19	3021	c.2312C>T	c.(2311-2313)gCc>gTc	p.A771V	SEMA6A_uc010jck.3_Missense_Mutation_p.A754V|SEMA6A_uc011cwe.2_Missense_Mutation_p.A133V|SEMA6A_uc003krv.4_Missense_Mutation_p.A181V|SEMA6A_uc003krw.4_Missense_Mutation_p.A231V|SEMA6A_uc010jcj.3_Missense_Mutation_p.A298V	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	754					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGTGGGGAGGGCCGTCAGGTC	0.637000														114			92		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51220089	51220089	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:51220089G>A	uc002psx.1	-	0	107	c.88C>T	c.(88-90)Cca>Tca	p.P30S		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	30					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGCCCGTCTGGGGAGCTGTCG	0.711000														12			12		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39025783	39025783	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:39025783G>A	uc002oit.3	+	79	11492	c.11362G>A	c.(11362-11364)Gag>Aag	p.E3788K	RYR1_uc002oiu.3_Missense_Mutation_p.E3783K|RYR1_uc002oiv.1_Missense_Mutation_p.E703K|RYR1_uc010xuf.1_Missense_Mutation_p.E708K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3788					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E3788Q(4)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTCCAGGAGAGACAGGTGC	0.557000														45			8		0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131019928	131019928	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:131019928C>T	uc011maw.2	-	23	2602	c.2589G>A	c.(2587-2589)gaG>gaA	p.E863E	GOLGA2_uc010mxw.3_Silent_p.E186E|GOLGA2_uc004buh.3_Intron|DQ583972_uc022boe.1_5'Flank|DQ583692_uc022bog.1_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	863						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						ACTCCTCCTTCTCCCGGTGCC	0.622000														57			114		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74823702	74823702	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:74823702G>A	uc021rwl.1	+	0	216	c.216G>A	c.(214-216)cgG>cgA	p.R72R	VRTN_uc001xpw.4_Silent_p.R72R	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	72					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						ATGCTCCACGGAACATGCTGC	0.672000														27			29		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48371143	48371143	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:48371143G>A	uc001rqu.3	-	45	3414	c.3233C>T	c.(3232-3234)cCc>cTc	p.P1078L	COL2A1_uc001rqt.3_5'Flank|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P1009L	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	1078	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGGACCAGCGGGGCCAGGGGA	0.622000														9			80		0	0	1	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158066850	158066850	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:158066850C>T	uc003qqt.3	+	5	1331	c.834C>T	c.(832-834)tcC>tcT	p.S278S	ZDHHC14_uc003qqs.3_Silent_p.S278S|ZDHHC14_uc010kjn.3_5'UTR	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA.	278						integral to membrane	acyltransferase activity|zinc ion binding	p.S278S(2)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		TGATCAGCTCCAACCAGACAA	0.522000														22			3		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12647621	12647621	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:12647621C>T	uc002gno.2	+	7	1138	c.839C>T	c.(838-840)cCa>cTa	p.P280L	MYOCD_uc002gnn.2_Missense_Mutation_p.P280L|MYOCD_uc002gnp.1_Missense_Mutation_p.P184L|MYOCD_uc002gnq.2_5'UTR	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	280					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AAGTCCCCTCCACCTATGGAC	0.552000														46			40		0	0	1	0	0
WDR91	29062	broad.mit.edu	37	7	134889048	134889048	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:134889048G>A	uc003vsp.2	-	5	925	c.863C>T	c.(862-864)tCg>tTg	p.S288L	WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_5'UTR	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	288										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTTCTTGGCCGAGCTCTGAGG	0.592000														73			24		0	0	1	0	0
PDIA3P	171423	broad.mit.edu	37	1	146650729	146650730	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:146650729_146650730GG>AA	uc001epg.1	+	0	1300_1301	c.1037_1038GG>AA	c.(1036-1038)ggg>gAA	p.G346E						Homo sapiens protein disulfide isomerase family A, member 3 pseudogene (PDIA3P), non-coding RNA.																		TCGCGTGATGGGAATGCTCTGG	0.480000														177			29		0	0	1	0	0
DIO1	1733	broad.mit.edu	37	1	54360019	54360019	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:54360019G>A	uc021onq.1	+	0	159	c.136G>A	c.(136-138)Gag>Aag	p.E46K	DIO1_uc021onp.1_Missense_Mutation_p.E46K|DIO1_uc009vzl.3_Missense_Mutation_p.E46K|DIO1_uc001cwb.3_Missense_Mutation_p.E46K|DIO1_uc021onr.1_Missense_Mutation_p.E46K|DIO1_uc001cwd.3_Non-coding_Transcript|DIO1_uc001cwe.3_Non-coding_Transcript|DIO1_uc001cwf.3_Non-coding_Transcript|DIO1_uc001cwg.3_Non-coding_Transcript	NM_000792	NP_001034804	P49895	IOD1_HUMAN	Homo sapiens deiodinase, iodothyronine, type I (DIO1), transcript variant 1, mRNA.	46					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GGCCATGGGCGAGAAGACGGG	0.527000														55			84		0	0	1	0	0
UBXN1	51035	broad.mit.edu	37	11	62445419	62445419	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:62445419C>T	uc001nuj.3	-	4	594	c.462G>A	c.(460-462)aaG>aaA	p.K154K	UBXN1_uc001nul.2_Silent_p.K154K|UBXN1_uc001nuk.3_Silent_p.K119K|UBXN1_uc010rme.1_Silent_p.K154K|UBXN1_uc010rmf.2_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	Homo sapiens UBX domain protein 1 (UBXN1), mRNA.	154	Interaction with BRCA1.			K -> N (in Ref. 1; AAA36396).	negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						ACTCCTCGGCCTTTTCCCTCC	0.532000														39			11		0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153944401	153944401	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:153944401G>A	uc004fmk.1	-	1	324	c.276C>T	c.(274-276)tcC>tcT	p.S92S	GAB3_uc004fmj.1_Silent_p.S92S|GAB3_uc010nve.1_Silent_p.S92S|GAB3_uc004fml.1_5'UTR	NM_001081573	NP_001075042	Q8WWW8	GAB3_HUMAN	Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA.	92	PH.									NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGAATGTACGGGAAGTAGTCT	0.507000														22			119		0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123924522	123924522	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:123924522G>A	uc004bkx.1	+	31	5427	c.5396G>A	c.(5395-5397)tGg>tAg	p.W1799*	CNTRL_uc004blb.1_Nonsense_Mutation_p.W468*|CNTRL_uc010mvp.1_Intron	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	1799					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TGTGACATTTGGGAAAAAAAG	0.388000														43			14		0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021727	73021727	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:73021727G>A	uc001otu.3	+	0	2065	c.2044G>A	c.(2044-2046)Ggc>Agc	p.G682S		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	682					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAACCACCATGGCCCTGGGAC	0.657000														46			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179407584	179407584	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:179407584G>A	uc021vsy.1	-	296	89518	c.89293C>T	c.(89293-89295)Cgt>Tgt	p.R29765C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R23460C|TTN_uc021vta.1_Missense_Mutation_p.R23393C|TTN_uc021vtb.1_Missense_Mutation_p.R23268C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30692							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)			GGAGGTGGACGGCCAGCAATA	0.473000														163			44		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237955555	237955555	+	Silent	SNP	T	C	C			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:237955555T>C	uc001hyl.1	+	93	13834	c.13714T>C	c.(13714-13716)Ttg>Ctg	p.L4572L	RYR2_uc010pyb.1_Silent_p.L5L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4572					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L4570L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAGCCCACGTTGCGTATCTT	0.463000														38			8		0	0	1	0	0
LOC344967	344967	broad.mit.edu	37	4	40045124	40045124	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:40045124C>T	uc011byr.1	-	2	1026	c.532G>A	c.(532-534)Gag>Aag	p.E178K						Homo sapiens acyl-CoA thioesterase 7 pseudogene (LOC344967), non-coding RNA.																		CCGGCGACCTCGTCCATGACC	0.552000														12			7		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42629073	42629073	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:42629073C>T	uc003gwr.2	-	1	335	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	ATP8A1_uc003gws.2_Missense_Mutation_p.E35K|ATP8A1_uc011byz.1_Missense_Mutation_p.E35K	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	35					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTCCTTACTTCCTCCTGGTCA	0.413000														31			14		0	0	1	0	0
XXYLT1	152002	broad.mit.edu	37	3	194790594	194790594	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:194790594G>A	uc003fum.4	-	3	1140	c.1032C>T	c.(1030-1032)ctC>ctT	p.L344L	XXYLT1_uc003ful.3_Silent_p.L141L|XXYLT1_uc003fuk.3_Silent_p.L138L	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	Homo sapiens xyloside xylosyltransferase 1 (XXYLT1), mRNA.	344						integral to membrane	transferase activity, transferring glycosyl groups										GCACATGGAAGAGCTTGGGGT	0.622000														13			48		0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	830648	830648	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:830648G>A	uc002cjz.1	-	2	353	c.353C>T	c.(352-354)cCt>cTt	p.P118L		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						AGTGTGCACAGGTAGGTGACA	0.567000														89			85		0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83434050	83434050	+	Splice_Site	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:83434050C>T	uc002bjd.2	-	11	1855	c.1688_splice	c.e11-1	p.G563_splice	FSD2_uc010uol.1_Splice_Site_p.G518_splice|FSD2_uc010uom.1_Splice_Site_p.G518_splice	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	563	B30.2/SPRY.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						AAAGTAGCTTCCTGTGGGAGG	0.547000														24			21		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9225313	9225313	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:9225313G>A	uc001qvk.1	-	29	4024	c.3911C>T	c.(3910-3912)tCa>tTa	p.S1304L	A2M_uc009zgk.1_Missense_Mutation_p.S1154L	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1304					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTCTGGCAATGAGACCTGCTG	0.522000														109			113		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089597	86089597	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:86089597A>G	uc021rxf.1	+	0	1739	c.1739A>G	c.(1738-1740)aAc>aGc	p.N580S	FLRT2_uc001xvr.3_Missense_Mutation_p.N580S|FLRT2_uc010atd.3_Missense_Mutation_p.N580S	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	580					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGGAAATACAACCGGGGCCGG	0.517000														107			16		0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	131008774	131008774	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:131008774G>A	uc022bob.1	+	15	1860	c.1773G>A	c.(1771-1773)acG>acA	p.T591T	DNM1_uc022bny.1_Silent_p.T591T|DNM1_uc022bnz.1_3'UTR|DNM1_uc022boa.1_3'UTR|DNM1_uc004bub.1_5'UTR|DNM1_uc004buc.1_Silent_p.T58T|MIR199B_uc004bue.1_5'Flank|MIR3154_uc022boc.1_5'Flank	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	591	PH.				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	p.T591T(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TCTTTAACACGGAGCAGAGGT	0.552000														31			9		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69030872	69030872	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:69030872G>A	uc003xxv.1	+	26	3441	c.3414G>A	c.(3412-3414)atG>atA	p.M1138I		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1138					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTGATGAAATGGACTCAGGTG	0.428000														72			36		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140778385	140778385	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:140778385C>T	uc003lkf.2	+	0	691	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	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_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Nonsense_Mutation_p.Q231*	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	231	Cadherin 2.				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)			GCTCCGGATCCAGGTAACCGA	0.547000														164			28		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004708	52004708	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:52004708G>A	uc002pwx.1	-	0	336	c.280C>T	c.(280-282)Cac>Tac	p.H94Y	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	94	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCAAGGAGGTGGAATCGGTCC	0.552000														134			82		0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53070082	53070082	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:53070082G>A	uc001sau.1	-	6	1511	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	KRT1_uc001sav.1_Silent_p.T484T	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	484	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CCTCCAGGAGGGTCCTGTAGG	0.567000														33			10		0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37154605	37154605	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:37154605C>T	uc002xiw.3	+	12	2227	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F	RALGAPB_uc002xix.3_Missense_Mutation_p.S657F|RALGAPB_uc002xiy.1_Missense_Mutation_p.S657F|RALGAPB_uc002xiz.3_Missense_Mutation_p.S435F|RALGAPB_uc002xja.1_Missense_Mutation_p.S384F	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	657					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTTTTCTGTCCCTGAAGTTG	0.358000														235			25		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46807188	46807188	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:46807188G>A	uc002peh.3	+	1	91	c.60G>A	c.(58-60)cgG>cgA	p.R20R	HIF3A_uc002pef.2_Silent_p.R20R|HIF3A_uc002peg.4_Silent_p.R20R|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_5'UTR|HIF3A_uc002pej.2_5'UTR|HIF3A_uc010xxy.2_5'UTR|HIF3A_uc002pel.3_Silent_p.R18R|HIF3A_uc010xxz.2_Missense_Mutation_p.G18E	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AAAAGTCCCGGGATGCGGCCC	0.672000														14			4		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580577	82580577	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:82580577G>A	uc003uhx.2	-	5	9616	c.9327C>T	c.(9325-9327)tcC>tcT	p.S3109S	PCLO_uc003uhv.2_Silent_p.S3109S|PCLO_uc010lec.3_Silent_p.S74S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3040					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						TGCTGAAAATGGAGCCAGGTT	0.463000														22			15		0	0	1	0	0
FAM53C	51307	broad.mit.edu	37	5	137680685	137680685	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:137680685C>T	uc003lcv.3	+	3	778	c.308C>T	c.(307-309)cCa>cTa	p.P103L	FAM53C_uc003lcw.3_Missense_Mutation_p.P103L|FAM53C_uc011cyq.2_Intron|FAM53C_uc011cyr.2_Intron	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	103										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCCCCAGATCCAGAGAAGCTT	0.657000														115			18		0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114680389	114680389	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:114680389G>A	uc021osa.1	-	2	877	c.799C>T	c.(799-801)Cct>Tct	p.P267S	SYT6_uc021orz.1_Missense_Mutation_p.P182S|SYT6_uc001eev.3_Missense_Mutation_p.P182S	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	267	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGACATAAGGGTCAGAGCTT	0.532000														86			19		0	0	1	0	0
CDCA4	55038	broad.mit.edu	37	14	105478262	105478262	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:105478262A>G	uc021sep.1	-	0	5	c.5T>C	c.(4-6)tTt>tCt	p.F2S	CDCA4_uc001yqa.2_Missense_Mutation_p.F2S|CDCA4_uc001yqb.2_Missense_Mutation_p.F2S	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	Homo sapiens cell division cycle associated 4 (CDCA4), transcript variant 2, mRNA.	2						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TCCTCGTGCAAACATTGTGTC	0.572000														34			23		0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30664295	30664295	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:30664295C>T	uc002dyy.3	+	4	633	c.375C>T	c.(373-375)tcC>tcT	p.S125S	PRR14_uc002dyz.3_5'UTR|PRR14_uc002dza.3_Silent_p.S125S|PRR14_uc002dzb.1_5'Flank	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	125	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GGACCTCTTCCACCCTGAGGC	0.637000														58			21		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9262586	9262586	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:9262586C>T	uc001qvk.1	-	5	663	c.550G>A	c.(550-552)Gag>Aag	p.E184K	A2M_uc009zgk.1_Missense_Mutation_p.E34K	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	184					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	AGGCCACCCTCTAACTGGAAA	0.453000														96			107		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165546	151165546	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:151165546C>T	uc011bod.2	-	3	2223	c.2223G>A	c.(2221-2223)agG>agA	p.R741R		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	741					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGAAATGCCTCCTATTCTCCC	0.463000														29			19		0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102981430	102981430	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:102981430G>A	uc003hvy.4	+	11	2306	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	BANK1_uc003hvx.4_Missense_Mutation_p.E663K|BANK1_uc010ill.3_Missense_Mutation_p.E545K|BANK1_uc003hvz.4_Missense_Mutation_p.E648K	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	678					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGATGGTCAGGAAGAACTCAT	0.453000														62			52		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35756556	35756556	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr13:35756556G>A	uc021rid.1	+	28	5256	c.4722G>A	c.(4720-4722)ctG>ctA	p.L1574L	NBEA_uc021ric.1_Silent_p.L1571L|NBEA_uc010abi.3_Silent_p.L262L	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1574						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTCGGTTCTGATGGTTTCCA	0.378000														46			49		0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171377080	171377080	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:171377080G>A	uc003fhs.3	-	20	2699	c.2352C>T	c.(2350-2352)ttC>ttT	p.F784F	PLD1_uc003fht.3_Silent_p.F746F|PLD1_uc003fhu.4_Silent_p.F78F|PLD1_uc003fhv.1_Silent_p.F109F	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	784	Catalytic.				Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.F784Y(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CACAGCTTATGAAAAACTGGT	0.353000														139			30		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47989762	47989762	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:47989762G>A	uc002xur.1	-	1	2501	c.2335C>T	c.(2335-2337)Cct>Tct	p.P779S	KCNB1_uc002xus.1_Missense_Mutation_p.P779S	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	779					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTGCTCCCAGGGAGGCTTTTG	0.542000														592			55		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159687216	159687216	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:159687216C>T	uc010kjv.3	+	20	5585	c.5385C>T	c.(5383-5385)ttC>ttT	p.F1795F		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1795						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ATCGAAAGTTCGTGGGAGTTG	0.473000														51			17		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56344821	56344821	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:56344821G>A	uc002ivt.3	+	11	2121	c.1805G>A	c.(1804-1806)gGg>gAg	p.G602E	LPO_uc010wns.2_Missense_Mutation_p.G543E|LPO_uc010dcp.3_Missense_Mutation_p.G519E|LPO_uc010dcq.3_Missense_Mutation_p.G273E|LPO_uc010dcr.3_Missense_Mutation_p.G165E	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	602					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGTCTCTACGGGACCCCTGAC	0.587000														53			19		0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27835041	27835041	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:27835041G>A	uc003njx.3	-	0	319	c.267C>T	c.(265-267)agC>agT	p.S89S		NM_005322	NP_005313	P16401	H15_HUMAN	Homo sapiens histone cluster 1, H1b (HIST1H1B), mRNA.	89	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TGCTCACCAAGCTCTTGAGGC	0.577000														84			237		0	0	1	0	0
HLA-DPA1	3113	broad.mit.edu	37	6	33036887	33036887	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:33036887G>A	uc003ocs.2	-	2	644	c.537C>T	c.(535-537)ttC>ttT	p.F179F	HLA-DPA1_uc021ywg.1_Silent_p.F179F|HLA-DPA1_uc021ywh.1_Silent_p.F179F|HLA-DPA1_uc010juk.3_Silent_p.F179F	NM_033554	NP_291032	P20036	DPA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP alpha 1 (HLA-DPA1), transcript variant 1, mRNA.	179	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						TCAGGTAATGGAACTTGTGGA	0.577000														325			41		0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650761	90650761	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:90650761C>T	uc001xye.1	+	1	1083	c.641C>T	c.(640-642)gCc>gTc	p.A214V		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	214						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TGCGCCTCAGCCATGTACACC	0.562000														102			72		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946027	144946027	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:144946027G>A	uc003zaa.1	-	0	1408	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	465						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAGTGGCAGGAAGGCAAGCC	0.677000														15			5		0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76062786	76062786	+	Splice_Site	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:76062786G>A	uc003ufd.4	+	4	546	c.536_splice	c.e4-1	p.E179_splice	ZP3_uc003ufc.4_Splice_Site_p.E128_splice|ZP3_uc003ufe.3_Splice_Site_p.E87_splice	NM_001110354	NP_009086	P21754	ZP3_HUMAN	Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA.	179	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of T cell proliferation|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	Golgi apparatus|endoplasmic reticulum|extracellular space|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						GTGTCTTTCAGAGAACTGGAA	0.597000														114			21		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307701	140307701	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:140307701C>T	uc003lih.2	+	0	1400	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.I408I	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	432	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCAGATCAGTGAATACC	0.517000														76			7		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2161812	2161812	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:2161812C>T	uc003zhc.3	+	27	4207	c.4108C>T	c.(4108-4110)Cgc>Tgc	p.R1370C	SMARCA2_uc003zhd.3_Missense_Mutation_p.R1370C|SMARCA2_uc010mha.3_Missense_Mutation_p.R1303C|SMARCA2_uc011llw.2_Missense_Mutation_p.R74C|SMARCA2_uc011llx.2_Missense_Mutation_p.R34C|SMARCA2_uc003zhe.3_Missense_Mutation_p.R76C|SMARCA2_uc010mhb.3_Missense_Mutation_p.R58C	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1370					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding	p.A1369G(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GAGAAGAGGCCGCCCTCCCGC	0.433000														19			18		0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63721281	63721281	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:63721281G>T	uc003tsx.3	+	3	505	c.236G>T	c.(235-237)aGa>aTa	p.R79I		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AATATAAAGAGAAATGAGATG	0.393000														89			7		0.00307968	0.00309062	1	1	0
WSCD2	9671	broad.mit.edu	37	12	108589781	108589781	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:108589781C>T	uc001tms.3	+	1	916	c.172C>T	c.(172-174)Cca>Tca	p.P58S	WSCD2_uc001tmt.3_Missense_Mutation_p.P58S	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	58						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGCAGGAGGCCCAGCTGAGGG	0.617000														86			66		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20012264	20012264	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr13:20012264G>A	uc001umd.3	-	14	1214	c.1003C>T	c.(1003-1005)Ctt>Ttt	p.L335F	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.L224F|TPTE2_uc001ume.3_Missense_Mutation_p.L258F|TPTE2_uc009zzm.3_Missense_Mutation_p.L6F|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.L6F	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	335	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GAGGCAATAAGGAGGGCACAA	0.368000														109			10		0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729381	62729381	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:62729381C>T	uc002yic.3	+	3	879	c.460C>T	c.(460-462)Cac>Tac	p.H154Y	OPRL1_uc002yid.3_Missense_Mutation_p.H154Y|OPRL1_uc021wgs.1_Missense_Mutation_p.H154Y|OPRL1_uc002yif.4_Missense_Mutation_p.H149Y	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	154					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					AGCCATCTGCCACCCCATCCG	0.572000														179			18		0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19502294	19502294	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:19502294C>T	uc011aha.2	+	14	1414	c.1336C>T	c.(1336-1338)Cat>Tat	p.H446Y	CDC45_uc011agz.1_Missense_Mutation_p.H409Y|CDC45_uc002zpr.3_Missense_Mutation_p.H414Y|CDC45_uc002zpt.3_Missense_Mutation_p.H368Y	NM_001178010	NP_001171481	O75419	CDC45_HUMAN	Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.	414					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CAAGCTGTACCATGGCCTGGA	0.527000														30			20		0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124818423	124818423	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:124818423C>T	uc003yqv.3	+	19	2047	c.1986C>T	c.(1984-1986)tcC>tcT	p.S662S	FAM91A1_uc011lik.1_Silent_p.S662S|FAM91A1_uc011lil.2_Silent_p.S420S	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA.	662										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TGAATGCTTCCAGCCAACTTG	0.403000														73			59		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651654	84651654	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:84651654G>A	uc002bjz.4	+	20	3498	c.3274G>A	c.(3274-3276)Gat>Aat	p.D1092N	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.D1092N	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1092						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATATAGCATGGATACAGCCCA	0.473000														51			31		0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	21962837	21962837	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:21962837C>T	uc021pny.1	+	9	1610	c.1610C>T	c.(1609-1611)cCa>cTa	p.P537L	MLLT10_uc001iqs.3_Missense_Mutation_p.P537L|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Missense_Mutation_p.P537L|MLLT10_uc001ira.3_5'UTR|MLLT10_uc001irb.3_Non-coding_Transcript	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	537	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGCTCATCTCCAGTTGGTTCA	0.448000			T	"""MLL, PICALM, CDK6"""	AL									41			8		0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688295	55688295	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:55688295G>A	uc010sph.2	-	0	722	c.722C>T	c.(721-723)tCc>tTc	p.S241F		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AATCATGTGGGAAGTACAGGT	0.378000														10			38		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109793693	109793693	+	Silent	SNP	C	T	T	rs147270616	by1000genomes	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr13:109793693C>T	uc010agk.2	+	31	5755	c.5133C>T	c.(5131-5133)tcC>tcT	p.S1711S	MYO16_uc001vqt.1_Silent_p.S1689S	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1689					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity	p.S1689S(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTCGGAAATCCGCGGCGGGAA	0.627000														20			5		0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664713	5664713	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:5664713C>T	uc001mbh.3	+	7	1398	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Missense_Mutation_p.S768F|TRIM6-TRIM34_uc001mbi.3_Missense_Mutation_p.S414F|TRIM6-TRIM34_uc009yer.3_Intron	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	768						intracellular	zinc ion binding	p.G414R(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		TTTGAAGAGTCTTTGTCCTCT	0.438000														77			81		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142651365	142651365	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:142651365G>A	uc003wcb.3	-	7	1040	c.830C>T	c.(829-831)tCc>tTc	p.S277F		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	277					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGAAGTGATGGAGATTGACAA	0.552000														108			9		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37707543	37707543	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:37707543C>T	uc004aag.1	+	2	276	c.232C>T	c.(232-234)Ccc>Tcc	p.P78S	FRMPD1_uc004aah.1_Missense_Mutation_p.P78S	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	78	PDZ.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TGAGAGCCTTCCCCTTACAGT	0.502000														79			28		0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44590472	44590472	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:44590472C>T	uc002oyg.1	+	4	1057	c.841C>T	c.(841-843)Cat>Tat	p.H281Y	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	Homo sapiens zinc finger protein 284 (ZNF284), mRNA.	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TCAAAGAATCCATACTGGGGA	0.398000														89			72		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174696	150174696	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:150174696C>T	uc003whj.3	+	4	2156	c.1826C>T	c.(1825-1827)gCc>gTc	p.A609V		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	609						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ACAGGCCAGGCCCAGGAAACC	0.458000														249			31		0	0	1	0	0
LOC100125556	100125556	broad.mit.edu	37	3	125647570	125647570	+	RNA	SNP	T	C	C			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:125647570T>C	uc003eid.4	+	4		c.646T>C			LOC100125556_uc003eif.4_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member A pseudogene (LOC100125556), transcript variant 2, non-coding RNA.																		AATCAGGAACTACAAACTGCC	0.428000														17			2		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475079	120475079	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:120475079G>A	uc004bjz.3	+	2	964	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	TLR4_uc004bkb.3_Missense_Mutation_p.E25K|TLR4_uc004bka.3_Missense_Mutation_p.E185K	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	225					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGCATTTAAAGAAATTAGGCT	0.373000														69			17		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864629	13864629	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:13864629C>T	uc003jfd.2	-	27	4515	c.4473G>A	c.(4471-4473)atG>atA	p.M1491I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1491	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCGCTCCATCATGGCTTTAC	0.502000									Kartagener syndrome					36			38		0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207427000	207427000	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:207427000C>T	uc002vbq.3	+	12	1551	c.1328C>T	c.(1327-1329)cCt>cTt	p.P443L	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	443	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CAATGGGAACCTTCTAGCAGA	0.403000														52			92		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974277	16974277	+	RNA	SNP	A	C	C	rs151151026	by1000genomes	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:16974277A>C	uc009vow.2	+	4		c.1087A>C			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Splice_Site|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Splice_Site|MST1P2_uc009vox.3_Splice_Site|MST1P2_uc001azm.4_Splice_Site					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGTCCATCTAAGGGTCCGAGG	0.657000														41			10		0	0	1	0	0
GAGE10	643832	broad.mit.edu	37	X	49161352	49161352	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:49161352G>A	uc010nir.1	+	1	130	c.14G>A	c.(13-15)gGa>gAa	p.G5E		NM_001098413	NP_001091883	A6NGK3	GAG10_HUMAN	Homo sapiens G antigen 10 (GAGE10), mRNA.	5										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					AGTTGGCGAGGAAGATCGACC	0.448000														197			68		0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101593755	101593755	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:101593755G>A	uc003knm.3	-	6	1452	c.1165C>T	c.(1165-1167)Cta>Tta	p.L389L		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	389					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GAAGTTGATAGAACTAAACAC	0.313000														36			28		0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45476362	45476362	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:45476362C>T	uc002pai.3	+	2	258	c.204C>T	c.(202-204)gcC>gcT	p.A68A	CLPTM1_uc010ejv.1_5'UTR|CLPTM1_uc010xxf.2_5'UTR|CLPTM1_uc010xxg.2_Silent_p.A54A	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	68					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCATCTGGGCCATCAGCAGTT	0.632000														128			18		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61528272	61528272	+	Silent	SNP	G	A	A	rs142748214	byFrequency	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:61528272G>A	uc002ydr.2	-	6	1977	c.1665C>T	c.(1663-1665)tcC>tcT	p.S555S	DIDO1_uc002yds.2_Silent_p.S555S|DIDO1_uc002ydt.2_Silent_p.S555S|DIDO1_uc002ydu.2_Silent_p.S555S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	555					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.G554C(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGCCCACCGCGGAGCCTGGAG	0.562000														68			10		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119124927	119124927	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:119124927C>A	uc004bjn.3	+	17	4785	c.4404C>A	c.(4402-4404)ttC>ttA	p.F1468L	PAPPA_uc011lxq.2_Missense_Mutation_p.F843L	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1468	Sushi 4.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACGGCTCCTTCCATGTCTGCC	0.527000														58			12		1.61879e-10	1.64796e-10	1	1	0
PCYT1A	5130	broad.mit.edu	37	3	195965607	195965607	+	Silent	SNP	G	A	A	rs142070722		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:195965607G>A	uc003fwg.3	-	9	1229	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	AF088041_uc003fwf.1_5'Flank|PCYT1A_uc003fwh.3_Silent_p.S352S	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	352						cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	CCTTGTGCCTGGAGAGATTTG	0.572000														156			17		0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48523019	48523019	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:48523019C>T	uc002pht.3	+	4	577	c.399C>T	c.(397-399)tcC>tcT	p.S133S		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	133	Fibronectin type-II 3.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TCTTCCCCTCCATCTACAGAA	0.458000														64			11		0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133438182	133438182	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:133438182G>A	uc001ulf.2	-	6	742	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	CHFR_uc001ulc.1_Non-coding_Transcript|CHFR_uc001uld.2_Missense_Mutation_p.P179S|CHFR_uc001ule.2_Missense_Mutation_p.P208S|CHFR_uc010tbs.1_Missense_Mutation_p.P220S|CHFR_uc010tbt.1_Missense_Mutation_p.P128S	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	Homo sapiens checkpoint with forkhead and ring finger domains (CHFR), transcript variant 1, mRNA.	220					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GCCACAGAGGGACCACTTCCT	0.537000														31			10		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96058147	96058147	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:96058147G>T	uc001kjk.3	+	23	5813	c.5179G>T	c.(5179-5181)Ggc>Tgc	p.G1727C	PLCE1_uc010qnx.2_Missense_Mutation_p.G1711C|PLCE1_uc001kjm.3_Missense_Mutation_p.G1419C|PLCE1_uc001kjp.3_Missense_Mutation_p.G85C	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1727	Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma (By similarity).				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTCCTGTGAAGGCATTCGACA	0.428000														26			36		4.92203e-23	5.03794e-23	1	1	0
FLNC	2318	broad.mit.edu	37	7	128489578	128489578	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:128489578C>T	uc003vnz.4	+	29	5354	c.5145C>T	c.(5143-5145)gtC>gtT	p.V1715V	FLNC_uc003voa.4_Silent_p.V1715V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1715					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.Y1714*(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCAAGTACGTCATCACCATCC	0.597000														89			37		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520558	52520558	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:52520558C>T	uc001wzo.3	-	4	1402	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	NID2_uc010tqs.2_Missense_Mutation_p.E390K|NID2_uc010tqt.1_Missense_Mutation_p.E390K|NID2_uc001wzp.3_Missense_Mutation_p.E390K	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	390						basement membrane	calcium ion binding|collagen binding	p.E390Q(2)|p.R389K(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTTCTGGTCTCTCTCTCATCC	0.547000														44			14		0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58598280	58598280	+	Silent	SNP	G	A	A	rs142570646		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:58598280G>A	uc010yht.1	-	4	936	c.906C>T	c.(904-906)ctC>ctT	p.L302L	ZSCAN18_uc002qrj.3_Silent_p.L246L|ZSCAN18_uc010yhs.1_Silent_p.L111L|ZSCAN18_uc002qrh.2_Silent_p.L246L|ZSCAN18_uc002qri.2_Silent_p.L246L|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	246					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CACCCCACAGGAGCAGCTTCC	0.647000														50			4		0	0	1	0	0
TMEM89	440955	broad.mit.edu	37	3	48658389	48658389	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:48658389G>A	uc011bbo.2	-	1	366	c.366C>T	c.(364-366)ctC>ctT	p.L122L		NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN	Homo sapiens transmembrane protein 89 (TMEM89), mRNA.	122						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGACCCCACGGAGCAGGGTGT	0.612000														72			13		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57579562	57579562	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:57579562G>A	uc001snd.3	+	40	7178	c.6712G>A	c.(6712-6714)Gcc>Acc	p.A2238T		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2238					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GAACGTCATCGCCCTGGCCTT	0.577000														51			13		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432905	140432905	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:140432905C>T	uc003lik.1	+	0	1927	c.1850C>T	c.(1849-1851)tCt>tTt	p.S617F		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	617	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGTTATTTTCTGTTCAAAGA	0.433000														123			9		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10916370	10916370	+	Splice_Site	SNP	G	A	A	rs150256961	byFrequency	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr21:10916370G>A	uc002yip.1	-	20	1644	c.1276_splice	c.e20+1	p.R426_splice	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Splice_Site_p.R408_splice|TPTE_uc002yir.1_Splice_Site_p.R388_splice|TPTE_uc010gkv.1_Splice_Site_p.R288_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	426	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGCACTTACGAGGAATCGAA	0.388000														97			11		0	0	1	0	0
DEFB115	245929	broad.mit.edu	37	20	29847392	29847392	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:29847392C>T	uc002wvp.1	+	1	224	c.224C>T	c.(223-225)tCa>tTa	p.S75L		NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	Homo sapiens defensin, beta 115 (DEFB115), mRNA.	75					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			GATAAACTATCACACATTCAC	0.353000														30			25		0	0	1	0	0
LCE1B	353132	broad.mit.edu	37	1	152784986	152784986	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:152784986C>T	uc001faq.3	+	0	540	c.64C>T	c.(64-66)Ccc>Tcc	p.P22S		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	Homo sapiens late cornified envelope 1B (LCE1B), mRNA.	22	Pro-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			caagtgccctcccaagtgccT	0.617000														173			51		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91827351	91827351	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:91827351C>T	uc002bqv.3	+	11	2499	c.1608C>T	c.(1606-1608)ttC>ttT	p.F536F	SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.F385F	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	536					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ATAATGACTTCCTGATTTACC	0.498000														81			91		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063438	9063438	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:9063438G>A	uc002mkp.3	-	2	24212	c.24008C>T	c.(24007-24009)tCa>tTa	p.S8003L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8005	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						CGTGAGGAGTGAAGTCACAGG	0.468000														72			13		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24349415	24349415	+	Splice_Site	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:24349415G>A	uc003xeb.3	+	14	1470	c.1357_splice	c.e14-1	p.I453_splice	ADAM7_uc003xec.3_Splice_Site_p.I225_splice	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	453	Disintegrin.		I -> T (in dbSNP:rs3736281).		proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTCCTCAACAGATAAAAAAAG	0.423000														17			13		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657641	143657641	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:143657641C>T	uc003wds.1	+	0	622	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S193S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					GTGGACACCTCCTCCAATGAG	0.478000														101			85		0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24583182	24583182	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:24583182C>T	uc002zzn.1	+	10	1699	c.1655C>T	c.(1654-1656)tCg>tTg	p.S552L		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	552	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ATGTTCCTGTCGGTGGCTGCC	0.667000														31			39		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2705076	2705076	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:2705076G>A	uc009zdu.1	+	19	3013	c.2700G>A	c.(2698-2700)acG>acA	p.T900T	CACNA1C_uc001qkc.2_Silent_p.T900T|CACNA1C_uc001qjz.2_Silent_p.T900T|CACNA1C_uc001qkd.2_Silent_p.T900T|CACNA1C_uc001qke.2_Silent_p.T900T|CACNA1C_uc001qkf.2_Silent_p.T900T|CACNA1C_uc009zdw.1_Silent_p.T900T|CACNA1C_uc001qkg.2_Silent_p.T900T|CACNA1C_uc001qkh.2_Silent_p.T900T|CACNA1C_uc001qkl.2_Silent_p.T900T|CACNA1C_uc001qkj.2_Silent_p.T900T|CACNA1C_uc001qkk.2_Silent_p.T900T|CACNA1C_uc001qkn.2_Silent_p.T900T|CACNA1C_uc001qkm.2_Silent_p.T900T|CACNA1C_uc001qko.2_Silent_p.T900T|CACNA1C_uc001qkp.2_Silent_p.T900T|CACNA1C_uc001qkq.2_Silent_p.T900T|CACNA1C_uc001qku.2_Silent_p.T900T|CACNA1C_uc001qkr.2_Silent_p.T900T|CACNA1C_uc001qks.2_Silent_p.T900T|CACNA1C_uc001qkt.2_Silent_p.T900T|CACNA1C_uc009zdv.1_Silent_p.T897T|CACNA1C_uc001qkb.2_Silent_p.T900T|CACNA1C_uc001qka.1_Silent_p.T435T|CACNA1C_uc001qki.1_Silent_p.T636T	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	900					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCAATGACACGATCTTCACCA	0.562000														56			66		0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31659452	31659452	+	Silent	SNP	A	G	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:31659452A>G	uc003nvy.2	-	8	826	c.747T>C	c.(745-747)aaT>aaC	p.N249N	ABHD16A_uc003nvx.2_Silent_p.N30N|ABHD16A_uc011dny.2_Silent_p.N216N|ABHD16A_uc010jtc.2_Silent_p.N30N|ABHD16A_uc011dnz.2_Silent_p.N30N	NM_021160	NP_066983	O95870	ABHGA_HUMAN	Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA.	249						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CCCGGCGCCCATTACACTGAG	0.617000														54			7		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124380791	124380791	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:124380791G>A	uc001lgk.1	+	40	5222	c.5116G>A	c.(5116-5118)Gat>Aat	p.D1706N	DMBT1_uc001lgl.1_Missense_Mutation_p.D1696N|DMBT1_uc001lgm.1_Missense_Mutation_p.D1078N|DMBT1_uc021qaf.1_Missense_Mutation_p.D1706N|DMBT1_uc021qag.1_Missense_Mutation_p.D1696N|DMBT1_uc021qah.1_Missense_Mutation_p.D1078N|DMBT1_uc009xzz.1_Missense_Mutation_p.D1706N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.D409N|DMBT1_uc009yac.1_Missense_Mutation_p.D20N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1706	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTCCTGGATGATGTGCGCTG	0.612000														117			39		0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151672175	151672175	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:151672175G>A	uc011eep.2	+	3	2889	c.2649G>A	c.(2647-2649)gaG>gaA	p.E883E	AKAP12_uc003qoe.3_Silent_p.E883E|AKAP12_uc003qof.3_Silent_p.E785E|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Silent_p.E778E	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	883					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGTCCAAGGAGCTCAGCGAGA	0.527000														32			57		0	0	1	0	0
CENPT	80152	broad.mit.edu	37	16	67862711	67862711	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:67862711C>T	uc002eun.4	-	13	1865	c.1316G>A	c.(1315-1317)aGg>aAg	p.R439K	CENPT_uc010vkc.2_Missense_Mutation_p.R197K|CENPT_uc010vkd.1_Missense_Mutation_p.R192K	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	Homo sapiens centromere protein T (CENPT), mRNA.	439					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AGGGGGATGCCTGACCAACAG	0.577000														85			15		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5021148	5021148	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:5021148G>A	uc010qyu.2	+	0	936	c.936G>A	c.(934-936)agG>agA	p.R312R		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L311L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGTCCTAAGGAGGAGGTTTT	0.403000														59			7		0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223176830	223176830	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:223176830C>T	uc001hnu.2	+	9	2417	c.2091C>T	c.(2089-2091)gcC>gcT	p.A697A		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	697					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)		TACTCTTTGCCATTTCAGAAG	0.393000														179			19		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092834	147092834	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:147092834C>T	uc003weu.2	+	9	2148	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	544	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.F544L(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGGGAAGTTTCGCGAATGTCA	0.438000										HNSCC(39;0.1)				294			27		0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14613452	14613452	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:14613452C>T	uc001rbw.3	+	8	2340	c.2182C>T	c.(2182-2184)Cct>Tct	p.P728S	ATF7IP_uc010shs.1_Missense_Mutation_p.S697F|ATF7IP_uc001rbu.3_Missense_Mutation_p.P728S|ATF7IP_uc001rbv.1_Missense_Mutation_p.P727S|ATF7IP_uc001rbx.3_Missense_Mutation_p.P727S|ATF7IP_uc010sht.1_Missense_Mutation_p.S698F|ATF7IP_uc001rby.4_Missense_Mutation_p.P728S|ATF7IP_uc001rca.3_Missense_Mutation_p.P728S	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	728	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TCTTGTCACTCCTCCAGCAGT	0.393000														174			26		0	0	1	0	0
TGIF1	7050	broad.mit.edu	37	18	3452058	3452058	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr18:3452058C>T	uc002klz.3	+	0	468	c.81C>T	c.(79-81)tcC>tcT	p.S27S	TGIF1_uc002klu.3_Intron|TGIF1_uc002klv.3_Intron|TGIF1_uc002klx.3_Intron|TGIF1_uc002klw.3_Intron|TGIF1_uc010dkm.1_Intron|TGIF1_uc002kly.3_Intron|TGIF1_uc002kma.3_Intron|TGIF1_uc002kmb.3_5'Flank	NM_170695	NP_777480	Q15583	TGIF1_HUMAN	Homo sapiens TGFB-induced factor homeobox 1 (TGIF1), transcript variant 1, mRNA.	27					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GCTCTGATTCCTTTCCATGGC	0.667000														41			42		0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:155887393T>G	uc001fmi.1	-	10	1361	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_uc001fmj.1_Missense_Mutation_p.Q446P|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000														50			11		0	0	1	0	0
CLCN7	1186	broad.mit.edu	37	16	1504440	1504440	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:1504440G>A	uc002clv.2	-	12	1235	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	CLCN7_uc002clw.2_Silent_p.I351I	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	375						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TGAAGACCGGGATCTCGTGGA	0.597000														55			10		0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247014101	247014101	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:247014101G>A	uc001ibv.2	-	32	5331	c.5234C>T	c.(5233-5235)tCc>tTc	p.S1745F	AHCTF1_uc009xgs.1_Missense_Mutation_p.S597F|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	1736	Necessary for nuclear localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGTTTTGGAGGAAACCACGTC	0.438000														125			19		0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61997128	61997128	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:61997128C>T	uc001xfn.3	+	11	1881	c.1576C>T	c.(1576-1578)Ctc>Ttc	p.L526F	PRKCH_uc010tsa.2_Missense_Mutation_p.L365F|PRKCH_uc010tsb.2_Missense_Mutation_p.L94F	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	526	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TGCACAGATCCTCCAGGAAAT	0.478000														139			26		0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112130549	112130549	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:112130549C>T	uc009zvx.3	+	1	236	c.36C>T	c.(34-36)ctC>ctT	p.L12L	ACAD10_uc009zvw.2_Silent_p.L12L|ACAD10_uc001tso.4_Silent_p.L12L|ACAD10_uc001tsp.3_Silent_p.L12L|ACAD10_uc001tsq.3_Silent_p.L12L	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	12							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCCCCCGTCTCCAGTGGGTGT	0.612000														11			70		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3828796	3828796	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:3828796G>A	uc002cvv.3	-	8	2050	c.1846C>T	c.(1846-1848)Cct>Tct	p.P616S	CREBBP_uc002cvw.3_Missense_Mutation_p.P578S	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	616	KIX.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.P616R(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCGGGATCAGGTGTTGGGAAG	0.473000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							110			64		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551905	100551905	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:100551905G>A	uc003uxl.1	+	0	1156	c.356G>A	c.(355-357)gGa>gAa	p.G119E	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TTCACTAGGGGAAGTACGTCT	0.428000														742			120		0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968871	5968871	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:5968871C>T	uc010qzt.2	+	0	295	c.295C>T	c.(295-297)Cct>Tct	p.P99S		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P99H(1)|p.P99L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCAGCTTCCCTGCCTGCTT	0.532000														104			98		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45303830	45303830	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:45303830G>A	uc003jok.3	-	5	1514	c.1489C>T	c.(1489-1491)Caa>Taa	p.Q497*		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	497						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCTCCAGGTTGAAACACCTCA	0.403000														125			27		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66987029	66987029	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:66987029C>T	uc002jhu.3	-	28	3929	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	ABCA9_uc010dez.3_Silent_p.Q1224Q	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1262					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTCTTTCCATCTGGATATCTT	0.383000														64			19		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135889	55135889	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:55135889G>A	uc010rif.2	+	0	530	c.530G>A	c.(529-531)tGg>tAg	p.W177*		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A176T(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTGGCGGCCTGGATTGGAGGC	0.433000														80			121		0	0	1	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17055909	17055909	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:17055909C>T	uc003wxe.3	+	5	860	c.463C>T	c.(463-465)Cat>Tat	p.H155Y		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.	155						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		GAAGATGGATCATCATTGTCC	0.264000														18			6		0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57337073	57337073	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:57337073C>A	uc004dvc.3	+	2	472	c.323C>A	c.(322-324)gCa>gAa	p.A108E		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	108						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CAAAAGCTTGCAGAGAAGCAG	0.423000										HNSCC(52;0.14)				33			13		0.000151284	0.000152363	1	1	0
DHCR24	1718	broad.mit.edu	37	1	55341714	55341714	+	Missense_Mutation	SNP	G	A	A	rs149238468		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:55341714G>A	uc001cyc.1	-	2	523	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	DHCR24_uc010ooj.1_5'UTR|DHCR24_uc010ook.1_Missense_Mutation_p.R91C	NM_014762	NP_055577	Q15392	DHC24_HUMAN	Homo sapiens 24-dehydrocholesterol reductase (DHCR24), mRNA.	132	FAD-binding PCMH-type.				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	p.R132G(2)		large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GGCTCCACACGGACAATCTGT	0.582000														3			29		0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62321443	62321443	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:62321443C>T	uc021wge.1	+	23	2315	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Silent_p.F715F|RTEL1_uc011abd.2_Silent_p.F739F|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Silent_p.F492F|RTEL1_uc002yfx.1_5'UTR	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	715					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCCCCAGGTTCGCCTTTGCCG	0.632000														157			16		0	0	1	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4409354	4409354	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:4409354G>A	uc002cwf.3	-	22	2726	c.2283C>T	c.(2281-2283)ctC>ctT	p.L761L	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Silent_p.L541L|CORO7-PAM16_uc002cwh.4_Silent_p.L761L|CORO7-PAM16_uc010uxh.2_Silent_p.L743L|CORO7-PAM16_uc010uxi.2_Silent_p.L676L|CORO7-PAM16_uc002cwi.1_Silent_p.L541L	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		GGGACTCGGGGAGCAGCTCGT	0.657000											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			4		0	0	1	0	0
COQ2	27235	broad.mit.edu	37	4	84194714	84194714	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:84194714G>A	uc003hog.3	-	2	627	c.627C>T	c.(625-627)tcC>tcT	p.S209S	COQ2_uc011ccp.2_Non-coding_Transcript|COQ2_uc003hof.3_Non-coding_Transcript	NM_015697	NP_056512	Q96H96	COQ2_HUMAN	Homo sapiens coenzyme Q2 homolog, prenyltransferase (yeast) (COQ2), nuclear gene encoding mitochondrial protein, mRNA.	159					glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrial membrane	4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				GAAAAACAAAGGACTGAAAAG	0.383000														106			47		0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42813817	42813817	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:42813817G>A	uc002oti.3	+	1	459	c.81G>A	c.(79-81)cgG>cgA	p.R27R	PRR19_uc002oth.1_Silent_p.R27R|PRR19_uc002otj.3_Silent_p.R27R	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	Homo sapiens proline rich 19 (PRR19), mRNA.	27										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				AGACTAGGCGGGAACGTAACA	0.597000														68			47		0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106863676	106863676	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:106863676C>T	uc011cfd.2	+	8	1279	c.1066C>T	c.(1066-1068)Cct>Tct	p.P356S	NPNT_uc011cfc.2_Missense_Mutation_p.P343S|NPNT_uc011cfe.2_Missense_Mutation_p.P356S|NPNT_uc003hya.3_Missense_Mutation_p.P326S|NPNT_uc011cff.2_Missense_Mutation_p.P326S	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	326	Pro-rich.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AACACCAATTCCTACTCCACC	0.512000														63			45		0	0	1	0	0
VRK1	7443	broad.mit.edu	37	14	97313674	97313674	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:97313674G>A	uc001yft.3	+	4	473	c.367G>A	c.(367-369)Gga>Aga	p.G123R		NM_003384	NP_003375	Q99986	VRK1_HUMAN	Homo sapiens vaccinia related kinase 1 (VRK1), mRNA.	123	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TGACAAAAATGGAAAAAGGTA	0.353000														25			17		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183270	13183270	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:13183270C>T	uc010obg.2	-	1	846	c.603G>A	c.(601-603)ctG>ctA	p.L201L		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	201						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CAATTTTTTCCAGGTTTTCCA	0.433000														294			36		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96022312	96022312	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:96022312G>A	uc001kjk.3	+	13	4510	c.3876G>A	c.(3874-3876)tcG>tcA	p.S1292S	PLCE1_uc010qnx.2_Silent_p.S1276S|PLCE1_uc001kjm.3_Silent_p.S984S	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1292					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity	p.I1285fs*13(1)|p.I977fs*13(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGCAGCTATCGGACAACCAGA	0.468000														114			30		0	0	1	0	0
WDR91	29062	broad.mit.edu	37	7	134878093	134878093	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:134878093G>A	uc003vsp.2	-	10	1611	c.1549C>T	c.(1549-1551)Ccg>Tcg	p.P517S	WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Missense_Mutation_p.P106S	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	517										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTGAGGCTCGGAGCTGCTGCC	0.607000														115			14		0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113780266	113780266	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:113780266C>T	uc002tiq.1	-	5	584	c.480G>A	c.(478-480)atG>atA	p.M160I		NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	160					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						TCCTTCCTGGCATTCCTATGT	0.423000														24			31		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51200890	51200890	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:51200890G>A	uc002psx.1	-	12	1912	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	631					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TATAATGCCGGAAGAGTCTCT	0.537000														110			20		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173657	51173657	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:51173657C>T	uc021tif.1	-	1	2507	c.2185G>A	c.(2185-2187)Gat>Aat	p.D729N	SALL1_uc021tid.1_Missense_Mutation_p.D729N|SALL1_uc021tie.1_Missense_Mutation_p.D826N|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	826					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATGTTTTCATCAGAGAAGTTG	0.507000														223			38		0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25442574	25442574	+	RNA	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:25442574G>A	uc001yzf.1	+	5		c.569G>A			SNRPN_uc001yzk.1_5'Flank|SNRPN_uc010ayo.1_5'Flank|SNORD115-16_uc001yzm.1_5'Flank			P63162	RSMN_HUMAN	Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CTGGCCCCGGGAAAATGTCCC	0.602000									Prader-Willi syndrome					36			21		0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7535025	7535025	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:7535025C>T	uc002mgi.3	+	18	3616	c.3363C>T	c.(3361-3363)ccC>ccT	p.P1121P	ARHGEF18_uc010xjm.1_Silent_p.P963P|ARHGEF18_uc002mgh.3_Silent_p.P963P|ARHGEF18_uc002mgj.1_Silent_p.P758P|ARHGEF18_uc021unt.1_5'Flank	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	1121	Pro-rich.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CTGGCTTCCCCGCCCCGAGCC	0.721000														132			25		0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28848902	28848902	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:28848902C>T	uc003szq.3	+	8	1515	c.1125C>T	c.(1123-1125)gaC>gaT	p.D375D	CREB5_uc003szo.3_Silent_p.D342D|CREB5_uc003szr.3_Silent_p.D368D|CREB5_uc003szs.3_Silent_p.D236D	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	375					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P374L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AGGATCCGGACGAGAGGCGGC	0.592000														105			26		0	0	1	0	0
LGALSL	29094	broad.mit.edu	37	2	64683565	64683565	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:64683565C>T	uc002scy.4	+	3	694	c.341C>T	c.(340-342)cCt>cTt	p.P114L		NM_014181	NP_054900	Q3ZCW2	LEGL_HUMAN	Homo sapiens lectin, galactoside-binding-like (LGALSL), mRNA.	114	Galectin.					intracellular	sugar binding										TCAGCAATCCCTTACTTTCCA	0.507000														169			57		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325003	150325003	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:150325003C>T	uc022apv.1	-	2	1373	c.893G>A	c.(892-894)gGa>gAa	p.G298E	GIMAP6_uc003whn.3_Missense_Mutation_p.G228E|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	228							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTAATAATCTCCTTCGTTTTC	0.512000														310			89		0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45265888	45265888	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:45265888G>A	uc001myq.2	-	5	1122	c.996C>T	c.(994-996)acC>acT	p.T332T	SYT13_uc009yku.1_Silent_p.T188T	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	332	C2 2.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GGTGCTTCAAGGTCACCTTGA	0.527000														71			16		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166201247	166201247	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:166201247C>T	uc002udc.3	+	15	3035	c.2745C>T	c.(2743-2745)tcC>tcT	p.S915S	SCN2A_uc002udd.3_Silent_p.S915S|SCN2A_uc002ude.3_Silent_p.S915S	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	915					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCAAGATTTCCAATGATTGTG	0.488000														151			30		0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109271407	109271407	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:109271407C>T	uc001dvx.3	+	7	1523	c.1523C>T	c.(1522-1524)aCc>aTc	p.T508I	FNDC7_uc010ova.2_Missense_Mutation_p.T275I	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	509	Fibronectin type-III 6.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GAGTCCTGCACCATGCGGGGC	0.572000														76			16		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78969097	78969097	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:78969097C>T	uc004akc.2	+	35	5673	c.5135C>T	c.(5134-5136)cCc>cTc	p.P1712L		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	777					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCTGATCCCCCCAGTGCCCAG	0.617000														5			2		0	0	1	0	0
AF047486	0	broad.mit.edu	37	17	41020650	41020650	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:41020650G>A	uc002ibx.3	+	1	278	c.65G>A	c.(64-66)gGg>gAg	p.G22E	AOC4_uc002ibw.1_3'UTR					Homo sapiens amine oxidase pseudogene mRNA, splice variant HLAO2.																		CACTACTTTGGGGGCCTTGCG	0.522000														45			9		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480351	10480351	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:10480351C>T	uc003wtc.3	-	1	590	c.361G>A	c.(361-363)Gag>Aag	p.E121K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	121					intracellular signal transduction			p.E121D(1)		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)		GGGTTTCTCTCCTGTGGCCGG	0.627000														20			5		0	0	1	0	0
CIAO1	9391	broad.mit.edu	37	2	96936907	96936907	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:96936907C>T	uc002svs.3	+	6	1043	c.838C>T	c.(838-840)Cag>Tag	p.Q280*		NM_004804	NP_004795	O76071	CIAO1_HUMAN	Homo sapiens cytosolic iron-sulfur protein assembly 1 (CIAO1), mRNA.	280					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						CCGCGTGTTTCAGGAGGATCC	0.572000														67			16		0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106066646	106066646	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:106066646C>T	uc001yrw.1	-	4	1098	c.1086G>A	c.(1084-1086)caG>caA	p.Q362Q	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Silent_p.Q309Q|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		GCATGAAGTTCTGGATCAGGC	0.682000														19			5		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242021766	242021766	+	Missense_Mutation	SNP	G	A	A	rs142548282	by1000genomes	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:242021766G>A	uc002wah.1	+	28	4108	c.4108G>A	c.(4108-4110)Gtc>Atc	p.V1370I	SNED1_uc002wai.1_Missense_Mutation_p.V572I|SNED1_uc002waj.1_Missense_Mutation_p.V424I	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	1370					cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GGAGGGAGGCGTCTGTCACCA	0.547000														150			8		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762825	92762826	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:92762825_92762826GG>AA	uc003umh.1	-	4	3675_3676	c.2459_2460CC>TT	c.(2458-2460)tcc>tTT	p.S820F	SAMD9L_uc003umj.1_Missense_Mutation_p.S820F|SAMD9L_uc003umi.1_Missense_Mutation_p.S820F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S820F|SAMD9L_uc003umk.1_Missense_Mutation_p.S820F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S820F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S820F|SAMD9L_uc022ahh.1_Missense_Mutation_p.S820F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	820										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGCTAAAACGGAATGGATGGC	0.376000														100			47		0	0	1	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528599	77528599	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:77528599G>A	uc022bzh.1	-	0	645	c.645C>T	c.(643-645)acC>acT	p.T215T	CYSLTR1_uc004edb.3_Silent_p.T215T|CYSLTR1_uc010nma.3_Silent_p.T215T|CYSLTR1_uc010nmb.3_Silent_p.T215T	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	Homo sapiens cysteinyl leukotriene receptor 1 (CYSLTR1), mRNA.	215					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TTTTTAGTAAGGTCAAAATGA	0.323000														1			25		0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784501	30784501	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:30784501G>A	uc002wxn.2	-	2	1462	c.1245C>T	c.(1243-1245)tcC>tcT	p.S415S		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	415						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S415F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCAGTAGGTGGGAGAAGTCCA	0.647000														36			4		0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56827628	56827628	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:56827628G>A	uc001slf.2	-	2	348	c.180C>T	c.(178-180)atC>atT	p.I60I	TIMELESS_uc001slg.2_Silent_p.I60I	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	60					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CGCTCTGTAGGATCTGGGCTG	0.532000														110			24		0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149544949	149544949	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:149544949G>A	uc010lpn.3	+	3	559	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TGGACACATCGAGGGAGACTG	0.557000														13			40		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103418843	103418843	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:103418843G>A	uc001ymi.1	-	23	3396	c.3164C>T	c.(3163-3165)gCc>gTc	p.A1055V	CDC42BPB_uc001ymj.1_Missense_Mutation_p.A157V	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1055					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ACCCTCGCAGGCGTAGCCCTG	0.637000														12			3		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913089	6913089	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:6913089G>A	uc010rau.2	-	0	643	c.643C>T	c.(643-645)Ctg>Ttg	p.L215L		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TAGGATACCAGAATCAGAAAA	0.468000														33			44		0	0	1	0	0
SPDYE4	388333	broad.mit.edu	37	17	8656710	8656710	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:8656710G>A	uc010cnz.1	-	4	760	c.583C>T	c.(583-585)Cat>Tat	p.H195Y		NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN	Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA.	195										breast(1)|endometrium(2)|kidney(1)	4						CGAAGCTTATGGAACAAGGGT	0.577000														15			8		0	0	1	0	0
DUSP13	51207	broad.mit.edu	37	10	76857476	76857476	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:76857476C>T	uc001jwr.3	-	1	230	c.167G>A	c.(166-168)gGa>gAa	p.G56E	DUSP13_uc001jws.3_3'UTR|DUSP13_uc001jwu.3_Missense_Mutation_p.G149E|DUSP13_uc001jww.3_Missense_Mutation_p.G106E|DUSP13_uc009xrs.3_Missense_Mutation_p.G149E|DUSP13_uc001jwt.3_Missense_Mutation_p.G149E|DUSP13_uc001jwv.3_Missense_Mutation_p.G56E	NM_016364	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 6, mRNA.	48	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TCACGCATCTCCCAGGAAGAG	0.612000														44			11		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233334685	233334685	+	Splice_Site	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:233334685C>T	uc001hvl.2	-	15	3301	c.3066_splice	c.e15+1	p.K1022_splice	PCNXL2_uc001hvm.1_Splice_Site|PCNXL2_uc009xfu.3_Splice_Site|PCNXL2_uc001hvp.1_Splice_Site|PCNXL2_uc009xfv.1_Splice_Site	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1022						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCACACCTACCTTCACTGCAC	0.468000														16			8		0	0	1	0	0
WDSUB1	151525	broad.mit.edu	37	2	160139344	160139344	+	Silent	SNP	G	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:160139344G>T	uc002uaj.4	-	1	386	c.237C>A	c.(235-237)gtC>gtA	p.V79V	WDSUB1_uc002uak.4_Silent_p.V79V|WDSUB1_uc002ual.4_Silent_p.V79V|WDSUB1_uc010foo.3_Silent_p.V79V	NM_152528	NP_689741	Q8N9V3	WSDU1_HUMAN	Homo sapiens WD repeat, sterile alpha motif and U-box domain containing 1 (WDSUB1), transcript variant 3, mRNA.	79						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TATTCCATAGGACAGTGGTAC	0.488000														59			22		1.9806e-07	2.01266e-07	1	1	0
KIAA1217	56243	broad.mit.edu	37	10	24832126	24832126	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:24832126G>A	uc001iru.4	+	18	4330	c.3927G>A	c.(3925-3927)atG>atA	p.M1309I	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.M992I|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.M145I	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1309					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAAAGGAGATGGAAAAGCAAA	0.398000														32			48		0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159847208	159847208	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:159847208C>T	uc001fui.3	-	8	1107	c.1089G>A	c.(1087-1089)agG>agA	p.R363R	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Silent_p.R278R|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Silent_p.R349R	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	363						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCTCTTTCTCCCTCCGGATTC	0.552000														287			42		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76731877	76731877	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:76731877C>T	uc003pik.1	-	5	752	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	208					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCGAGAATTTCATTGAGGAGG	0.398000														34			26		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5039137	5039137	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:5039137C>T	uc002gau.1	+	16	2808	c.578C>T	c.(577-579)aCc>aTc	p.T193I	USP6_uc002gav.1_Missense_Mutation_p.T193I|USP6_uc010ckz.1_5'UTR|DQ575687_uc021toi.1_5'Flank|DQ570124_uc002gba.3_5'Flank|DQ576627_uc002gbb.3_5'Flank|DQ584383_uc021toj.1_5'Flank|DQ574802_uc021tok.1_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	193	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGCCACATCACCGCCTTGTTC	0.607000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									141			25		0	0	1	0	0
GPATCH3	63906	broad.mit.edu	37	1	27224157	27224157	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:27224157C>T	uc001bne.3	-	1	540	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	BC016143_uc021ojq.1_Intron|GPATCH3_uc009vsp.2_5'UTR	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	Homo sapiens G patch domain containing 3 (GPATCH3), mRNA.	171						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GTGAAGGCTTCATTCTCTGCC	0.557000														24			5		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10348361	10348361	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:10348361G>A	uc002gmn.3	-	36	5509	c.5398C>T	c.(5398-5400)Cgt>Tgt	p.R1800C	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1800					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						TCATCCAGACGGAGCTGCAGA	0.562000														152			63		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94053707	94053707	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:94053707C>T	uc003ung.1	+	40	3096	c.2625C>T	c.(2623-2625)ctC>ctT	p.L875L	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Non-coding_Transcript	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	875					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTCTGGGTCTCCCTGGCTCGA	0.468000										HNSCC(75;0.22)				151			16		0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6704190	6704190	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:6704190G>A	uc002gdt.3	-	6	1035	c.925C>T	c.(925-927)Cca>Tca	p.P309S	TEKT1_uc010vth.2_Missense_Mutation_p.P163S	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	309					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ACCTTGGCTGGCCCTTCTTGG	0.498000											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		224			40		0	0	1	0	0
C4orf19	55286	broad.mit.edu	37	4	37590493	37590493	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:37590493G>A	uc003gsw.4	+	2	187	c.4G>A	c.(4-6)Ggg>Agg	p.G2R	C4orf19_uc003gsy.4_Missense_Mutation_p.G2R	NM_001104629	NP_060772	Q8IY42	CD019_HUMAN	Homo sapiens chromosome 4 open reading frame 19 (C4orf19), transcript variant 1, mRNA.	2										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AATCCAGATGGGGTGCAGGTG	0.373000														59			10		0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59924472	59924472	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:59924472G>A	uc002izk.2	-	5	923	c.617C>T	c.(616-618)tCg>tTg	p.S206L		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	206	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTTCTGTGGCGAAAAGGAGTT	0.333000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						49			28		0	0	1	0	0
ZNF526	116115	broad.mit.edu	37	19	42729964	42729964	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:42729964G>A	uc002osz.1	+	2	1565	c.1409G>A	c.(1408-1410)cGg>cAg	p.R470Q	ZNF526_uc021uvc.1_Missense_Mutation_p.R470Q	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	Homo sapiens zinc finger protein 526 (ZNF526), mRNA.	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CCCCCTGAACGGCGTCACCGC	0.667000														102			21		0	0	1	0	0
KIAA0664	23277	broad.mit.edu	37	17	2605269	2605269	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:2605269G>A	uc002fuy.1	-	3	530	c.444C>T	c.(442-444)ttC>ttT	p.F148F	KIAA0664_uc002fux.1_Silent_p.F80F	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	148							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						CAACCCCGTTGAAGGCATCGG	0.647000														34			10		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42141921	42141922	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:42141921_42141922CC>TT	uc003baz.1	+	13	1596_1597	c.1571_1572CC>TT	c.(1570-1572)gcc>gTT	p.A524V	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc003bay.3_Missense_Mutation_p.A524V|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	524							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GAGCCTTCAGCCCAGGAGAATC	0.480000														40			7		0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73357695	73357695	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr13:73357695C>T	uc001vjc.3	+	1	393	c.88C>T	c.(88-90)Cct>Tct	p.P30S	PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Missense_Mutation_p.P30S|PIBF1_uc010aep.3_Intron|DIS3_uc001viy.4_5'Flank|DIS3_uc001vix.4_5'Flank|DIS3_uc001viz.3_5'Flank	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	30						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AACAACAGTTCCTACGGATGA	0.343000														62			60		0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38305672	38305672	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:38305672G>A	uc001cce.1	-	2	708	c.567C>T	c.(565-567)atC>atT	p.I189I	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	189						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCGCACGTGGATCCTGAGGC	0.537000														31			40		0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41482192	41482192	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:41482192C>T	uc010ucv.2	-	10	1271	c.999G>A	c.(997-999)gtG>gtA	p.V333V	EXD1_uc001znj.3_Silent_p.V73V|EXD1_uc001znk.3_Silent_p.V275V	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	275					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						GGTAACCATCCACCAGGGTGG	0.527000														93			21		0	0	1	0	0
GALNTL4	374378	broad.mit.edu	37	11	11394176	11394177	+	Splice_Site	DNP	CC	TT	TT			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:11394176_11394177CC>TT	uc001mjo.2	-	6	1399	c.978_splice	c.e6-1	p.R326_splice		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	326	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GGGCAGGGCTCCTGCAGGGGCA	0.599000														22			26		0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266870	107266870	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:107266870C>T	uc011lvm.2	+	0	327	c.327C>T	c.(325-327)tcC>tcT	p.S109S		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCATGGGCTCCACTGAGTGTG	0.527000														61			12		0	0	1	0	0
HAND2	9464	broad.mit.edu	37	4	174448405	174448405	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:174448405C>T	uc003itg.1	-	2	663	c.573G>A	c.(571-573)agG>agA	p.R191R	HAND2_uc003ith.1_3'UTR			P61296	HAND2_HUMAN	Homo sapiens heart and neural crest derivatives expressed 2 (HAND2), mRNA.	113					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CTCGCGCTctcctcctcctcc	0.627000														57			21		0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291130	141291130	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:141291130G>A	uc022cfj.1	-	0	644	c.644C>T	c.(643-645)aCc>aTc	p.T215I	MAGEC2_uc004fbu.2_Missense_Mutation_p.T215I	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	215	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTCATCGGTGAGGCCTAC	0.512000										HNSCC(46;0.14)				19			98		0	0	1	0	0
TM9SF2	9375	broad.mit.edu	37	13	100191742	100191742	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr13:100191742C>T	uc001voj.1	+	6	892	c.759C>T	c.(757-759)ccC>ccT	p.P253P	TM9SF2_uc010afz.1_Intron	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA.	253					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GCTCAGGGCCCCCCATGGACA	0.393000														102			88		0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49095151	49095151	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:49095151G>A	uc010hkq.3	-	3	778	c.482C>T	c.(481-483)cCc>cTc	p.P161L	QRICH1_uc003cvu.3_Missense_Mutation_p.P161L|QRICH1_uc003cvv.3_Missense_Mutation_p.P161L|QRICH1_uc021wxr.1_Missense_Mutation_p.P98L	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	161	Gln-rich.							p.P161S(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAGCTGCGAGGGACTGGGACT	0.612000														109			42		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140946619	140946619	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:140946619C>T	uc004cog.3	+	24	3931	c.3786C>T	c.(3784-3786)atC>atT	p.I1262I	CACNA1B_uc022bqn.1_Silent_p.I1262I|CACNA1B_uc011mfd.2_Silent_p.I863I|CACNA1B_uc004coi.3_Silent_p.I476I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1262					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCAAGACCATCAAACGGCTGC	0.537000														13			3		0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100463150	100463150	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:100463150C>T	uc003huw.3	+	8	1326	c.964C>T	c.(964-966)Cct>Tct	p.P322S	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	322										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		ACCAAATTCTCCTCCCAGGCC	0.408000														44			37		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50847285	50847285	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:50847285C>T	uc021vhh.1	-	6	2116	c.1195G>A	c.(1195-1197)Ggc>Agc	p.G399S	NRXN1_uc002rxb.4_Missense_Mutation_p.G71S|NRXN1_uc021vhg.1_Missense_Mutation_p.G439S|NRXN1_uc021vhi.1_Missense_Mutation_p.G435S|NRXN1_uc021vhj.1_Missense_Mutation_p.G395S|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	399	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGCGTGTAGCCCGTTGTGGTA	0.478000														9			19		0	0	1	0	0
POU4F3	5459	broad.mit.edu	37	5	145719650	145719650	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:145719650G>A	uc003loa.2	+	1	749	c.660G>A	c.(658-660)gtG>gtA	p.V220V		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	Homo sapiens POU class 4 homeobox 3 (POU4F3), mRNA.	220	POU-specific.				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCCGGCGTGGGCTCGCTGA	0.632000														75			20		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43542950	43542950	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr21:43542950C>T	uc002zag.1	+	15	3221	c.3221C>T	c.(3220-3222)cCt>cTt	p.P1074L	UMODL1_uc002zad.1_Missense_Mutation_p.P874L|UMODL1_uc002zae.1_Missense_Mutation_p.P1002L|UMODL1_uc002zaf.1_Missense_Mutation_p.P946L|UMODL1_uc002zal.1_5'UTR	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	946	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGTGACTCTCCTGGCAATGAA	0.622000														52			10		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117246754	117246754	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:117246754G>A	uc003vjd.3	+	17	3067	c.2935G>A	c.(2935-2937)Gat>Aat	p.D979N	CFTR_uc011knq.2_Missense_Mutation_p.D385N	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	979	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ATTCTCCAAAGATATAGCAAT	0.269000									Cystic Fibrosis					82			71		0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132401071	132401071	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:132401071C>T	uc001uje.3	+	19	2275	c.2007C>T	c.(2005-2007)ccC>ccT	p.P669P		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	669					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		AGGTGGGACCCTTCCATGGTC	0.706000														11			45		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50948839	50948839	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:50948839G>C	uc009xog.3	-	14	2172	c.2138C>G	c.(2137-2139)aCg>aGg	p.T713R	OGDHL_uc001jie.3_Missense_Mutation_p.T686R|OGDHL_uc010qgt.2_Missense_Mutation_p.T629R|OGDHL_uc010qgu.2_Missense_Mutation_p.T477R	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	686					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						AGGCACACACGTCCTGCGGTC	0.627000														18			31		0	0	1	0	0
UTS2R	2837	broad.mit.edu	37	17	80332455	80332455	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:80332455C>T	uc010wvl.2	+	0	255	c.255C>T	c.(253-255)tcC>tcT	p.S85S		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	Homo sapiens urotensin 2 receptor (UTS2R), mRNA.	85						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CGGTGGCCTCCATGTACGTCT	0.652000														17			6		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171178045	171178045	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:171178045C>T	uc001ghk.1	+	8	1486	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	FMO2_uc010pmd.1_Missense_Mutation_p.P237S	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	457					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)					GTTCAAAGATCCTAAACTGGC	0.502000														307			99		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48764858	48764858	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:48764858G>A	uc001zwx.2	-	34	4621	c.4226C>T	c.(4225-4227)tCt>tTt	p.S1409F		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1409	EGF-like 24; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGGTTCTCAGAGCACTCATC	0.512000														92			13		0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74593064	74593064	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:74593064G>A	uc002skx.3	-	23	3160	c.2842C>T	c.(2842-2844)Cga>Tga	p.R948*	SLC4A5_uc002skl.3_5'Flank|DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Nonsense_Mutation_p.R814*|DCTN1_uc002sku.3_Nonsense_Mutation_p.R814*|DCTN1_uc002skw.2_Nonsense_Mutation_p.R941*|DCTN1_uc010ffd.3_Nonsense_Mutation_p.R928*|DCTN1_uc002sky.3_Nonsense_Mutation_p.R911*	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	948					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ACTGTCTCTCGATCTTCGAGC	0.522000														105			30		0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9324798	9324798	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:9324798G>A	uc002mla.2	-	0	750	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TCCACAGGTGGAAAAGGCTTT	0.512000														55			44		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588836	179588836	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:179588836C>T	uc021vsy.1	-	69	17643	c.17418G>A	c.(17416-17418)ctG>ctA	p.L5806L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L2467L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6733	Ig-like 39.						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)			CAGTATTTTTCAGTCTTCGTG	0.423000														22			3		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071881	17071881	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:17071881G>A	uc002zlp.1	-	0	1820	c.1560C>T	c.(1558-1560)atC>atT	p.I520I		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	520					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.E519K(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGGCCACTACGATTTCATCTA	0.488000														163			35		0	0	1	0	0
LOC644189	644189	broad.mit.edu	37	19	36912770	36912770	+	RNA	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:36912770C>T	uc002odz.1	+	0		c.695C>T								Homo sapiens acyl-CoA thioesterase 4 pseudogene (LOC644189), non-coding RNA.																		GCCACGACCCCGAGCCTGGAC	0.652000														23			3		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57603648	57603648	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:57603648G>A	uc001snd.3	+	79	12902	c.12436G>A	c.(12436-12438)Gaa>Aaa	p.E4146K		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	4146					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.P4145P(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAAGCAGCCCGAAGGTGGGGG	0.632000														38			8		0	0	1	0	0
GORASP2	26003	broad.mit.edu	37	2	171804873	171804873	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:171804873C>T	uc002ugk.3	+	1	892	c.77C>T	c.(76-78)tCc>tTc	p.S26F	GORASP2_uc002ugj.3_5'UTR|GORASP2_uc010zdl.2_Missense_Mutation_p.S38F|GORASP2_uc010zdm.2_5'UTR|GORASP2_uc002ugl.3_5'UTR	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	Homo sapiens golgi reassembly stacking protein 2, 55kDa (GORASP2), transcript variant 1, mRNA.	26	PDZ.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CAAGAAAATTCCCCAGGACAC	0.333000														15			37		0	0	1	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774449	89774449	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:89774449G>A	uc010rua.2	+	7	1419	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K		NM_001195234	NP_001182163	P0CI26	T49L2_HUMAN	Homo sapiens tripartite motif containing 49-like 2 (TRIM49L2), mRNA.	364	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						GTATCGGAAGGAGAAGAATCA	0.448000														71			22		0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407772	1407772	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:1407772G>A	uc010nct.2	+	6	786	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.R155Q|CSF2RA_uc004cpq.2_Missense_Mutation_p.R155Q|CSF2RA_uc004cpn.2_Missense_Mutation_p.R155Q|CSF2RA_uc004cpo.2_Missense_Mutation_p.R155Q|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.R22Q|CSF2RA_uc004cpp.2_Missense_Mutation_p.R155Q|CSF2RA_uc010ncv.2_Missense_Mutation_p.R155Q|CSF2RA_uc004cpr.2_Missense_Mutation_p.R155Q	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	155						extracellular region|integral to plasma membrane	cytokine receptor activity	p.R155*(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTGTACATACGAAACTCAAAG	0.413000														116			43		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129195306	129195306	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:129195306C>T	uc003eml.3	+	10	1324	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F	IFT122_uc003emm.3_Missense_Mutation_p.S322F|IFT122_uc003emn.3_Missense_Mutation_p.S263F|IFT122_uc003emo.3_Missense_Mutation_p.S211F|IFT122_uc003emp.3_Missense_Mutation_p.S172F|IFT122_uc010htc.3_Missense_Mutation_p.S314F|IFT122_uc011bky.2_Missense_Mutation_p.S113F|IFT122_uc011bla.2_Missense_Mutation_p.S113F|IFT122_uc003emr.3_Missense_Mutation_p.S113F|IFT122_uc011bkx.1_Missense_Mutation_p.S162F|IFT122_uc011bkz.1_Non-coding_Transcript	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	322					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GAGCAGAACTCCTGGGTGTGG	0.512000														121			19		0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288712	125288712	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:125288712G>A	uc004bmn.1	-	0	861	c.861C>T	c.(859-861)atC>atT	p.I287I		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTAGGCTATAGATAAAGGGGT	0.473000														19			34		0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198323	15198323	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:15198323G>A	uc010xoe.2	+	0	447	c.447G>A	c.(445-447)tgG>tgA	p.W149*		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	149					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						GAGCATCATGGATGATCACCA	0.557000														64			16		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870278	36870278	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:36870278C>T	uc002xhy.1	-	2	527	c.255G>A	c.(253-255)agG>agA	p.R85R	KIAA1755_uc002xhz.1_Silent_p.R85R	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	85										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CAACTTCATCCCTCAGACAGA	0.577000														122			47		0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31092700	31092700	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:31092700C>T	uc002eap.3	+	1	5344	c.5055C>T	c.(5053-5055)tcC>tcT	p.S1685S	ZNF646_uc021tgu.1_Silent_p.S1685S	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	1685					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCGGGCGCTCCTACCGCCATG	0.642000														117			27		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12976551	12976551	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:12976551G>A	uc002mvm.3	+	15	1953	c.1825G>A	c.(1825-1827)Ggg>Agg	p.G609R		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	609	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GTGGCCCGAGGGGGATGAGGC	0.557000														81			15		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11642247	11642247	+	Silent	SNP	C	T	T	rs139063832		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:11642247C>T	uc002gne.3	+	28	5933	c.5865C>T	c.(5863-5865)ttC>ttT	p.F1955F	DNAH9_uc010coo.3_Silent_p.F1249F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1955	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGTTCAGCTTCCTTGGGGAGG	0.473000														89			13		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139655340	139655340	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:139655340C>T	uc011kqv.2	+	7	998	c.763C>T	c.(763-765)Ccc>Tcc	p.P255S	TBXAS1_uc003vvh.3_Missense_Mutation_p.P209S|TBXAS1_uc010lne.3_Missense_Mutation_p.P141S|TBXAS1_uc011kqu.2_Missense_Mutation_p.P160S|TBXAS1_uc003vvi.3_Missense_Mutation_p.P209S|TBXAS1_uc011kqw.2_Missense_Mutation_p.P189S|TBXAS1_uc003vvj.3_Missense_Mutation_p.P209S	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	208					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CCCTGAGGATCCCTTTGTGAA	0.577000														205			20		0	0	1	0	0
ING1	3621	broad.mit.edu	37	13	111368020	111368020	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr13:111368020C>T	uc001vri.3	+	0	662	c.230C>T	c.(229-231)tCt>tTt	p.S77F	CARS2_uc010tjm.1_5'Flank|DJ031140_uc001vre.3_5'Flank|ING1_uc001vrf.3_Intron|ING1_uc001vrg.3_Intron|ING1_uc001vrh.3_Intron	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	Homo sapiens inhibitor of growth family, member 1 (ING1), transcript variant 4, mRNA.	77					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	p.A77S(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGGCCGTGCTCTTCCGCCCTG	0.672000														22			8		0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99795441	99795441	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:99795441G>A	uc003utx.1	+	10	1261	c.1106G>A	c.(1105-1107)gGg>gAg	p.G369E	STAG3_uc010lgs.1_Missense_Mutation_p.G157E|STAG3_uc011kjk.1_Missense_Mutation_p.G311E|STAG3_uc003uub.1_5'Flank	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	369	SCD.				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCCTGAAAGGGCTGTACGGT	0.557000														87			45		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476223	120476223	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:120476223G>A	uc004bjz.3	+	2	2108	c.1817G>A	c.(1816-1818)cGa>cAa	p.R606Q	TLR4_uc004bkb.3_Missense_Mutation_p.R406Q|TLR4_uc004bka.3_Missense_Mutation_p.R566Q	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	606	LRRCT.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.R606Q(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GAAGTTGAACGAATGGAATGT	0.448000														36			6		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87623852	87623852	+	Silent	SNP	G	A	A	rs35903042	byFrequency	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:87623852G>A	uc003ydx.3	-	13	1674	c.1626C>T	c.(1624-1626)tcC>tcT	p.S542S	CNGB3_uc010maj.3_Silent_p.S404S	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	542					signal transduction|visual perception	integral to membrane	cGMP binding	p.S542S(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AATAGAGAACGGATTTCAATC	0.328000														41			30		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453135	140453136	+	Missense_Mutation	DNP	CA	TT	TT	rs121913377		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:140453135_140453136CA>TT	uc003vwc.4	-	14	1860_1861	c.1799_1800TG>AA	c.(1798-1800)gtg>gAA	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.V600V(2)|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.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)	ATCGAGATTTCACTGTAGCTAG	0.371000	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					56			95		0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42244009	42244009	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:42244009C>T	uc003cky.3	+	12	1725	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	TRAK1_uc011azh.2_Silent_p.S503S|TRAK1_uc011azi.2_Silent_p.S503S|TRAK1_uc003ckz.4_Silent_p.S429S|TRAK1_uc011azj.2_Silent_p.S429S|TRAK1_uc003cla.3_Silent_p.S445S	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	503	Interaction with HGS.			S -> P (in Ref. 2; CAH56169).	endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GGCGGCTGTCCCTGCGCCGGG	0.652000														29			46		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33962623	33962623	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:33962623T>G	uc001zhi.3	+	37	5796	c.5726T>G	c.(5725-5727)gTt>gGt	p.V1909G	RYR3_uc010bar.3_Missense_Mutation_p.V1909G	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1909	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V1909G(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTAGGGGTTCCTTTggaa	0.473000														19			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058191	9058191	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:9058191G>A	uc002mkp.3	-	2	29459	c.29255C>T	c.(29254-29256)tCc>tTc	p.S9752F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9754	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						AAGAGGAGAGGAGGGGCTACT	0.473000														60			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9045922	9045922	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:9045922G>A	uc002mkp.3	-	4	35913	c.35709C>T	c.(35707-35709)tcC>tcT	p.S11903S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11905	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						TAGAGGCACTGGAAAGCCCAG	0.498000														92			88		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50209537	50209537	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:50209537G>A	uc010eng.3	+	11	1526	c.1210G>A	c.(1210-1212)Gcc>Acc	p.A404T	CPT1C_uc002ppl.4_Missense_Mutation_p.A370T|CPT1C_uc002ppi.3_Missense_Mutation_p.A321T|CPT1C_uc002ppk.3_Missense_Mutation_p.A393T|CPT1C_uc010enh.3_Missense_Mutation_p.A404T|CPT1C_uc002ppj.3_Missense_Mutation_p.A404T|CPT1C_uc010ybc.1_Missense_Mutation_p.A275T|CPT1C_uc010eni.1_Missense_Mutation_p.A61T	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	404					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGCAGCGGAGGCCCTGGAGGC	0.701000														20			4		0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14417516	14417516	+	RNA	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr21:14417516G>A	uc002yiy.3	+	2		c.2791G>A			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TGGCCATAAGGAAAAGAAGTG	0.289000														30			4		0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168440778	168440778	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:168440778C>T	uc003qwk.1	+	5	790	c.528C>T	c.(526-528)ctC>ctT	p.L176L	KIF25_uc003qwl.1_Silent_p.L176L	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	176	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TGATGGAGCTCGTTCATGGAG	0.597000														48			9		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202746	140202746	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:140202746C>T	uc003lhl.2	+	0	1386	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.F462F|PCDHAC2_uc003lhj.1_Silent_p.F462F	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	477	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACCGTGTTCGTGAAGGAGA	0.662000														136			22		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39913402	39913402	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:39913402G>A	uc010xuz.2	+	17	2033	c.1708G>A	c.(1708-1710)Gga>Aga	p.G570R	PLEKHG2_uc010xuy.2_Missense_Mutation_p.G511R|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.G348R	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	570					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAAGTTCCCCGGAGACTCCCA	0.587000														69			14		0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17688077	17688077	+	Silent	SNP	C	T	T	rs143138564	by1000genomes	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:17688077C>T	uc002zmk.1	-	1	638	c.426G>A	c.(424-426)ggG>ggA	p.G142G	CECR1_uc010gqu.1_Silent_p.G142G|CECR1_uc011agi.1_Silent_p.G100G|CECR1_uc011agj.1_Silent_p.G100G	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	142	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ACTGCATGATCCCCCTTGGGG	0.527000														94			19		0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648340	130648340	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:130648340G>A	uc001uii.3	+	0	1337	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	285					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.A285S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTTCGCCGGCGCCGAGAGCAT	0.657000														93			24		0	0	1	0	0
GTPBP6	8225	broad.mit.edu	37	X	229464	229464	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:229464G>A	uc004cpe.1	-	1	199	c.198C>T	c.(196-198)ccC>ccT	p.P66P	GTPBP6_uc011mgy.1_Silent_p.P46P	NM_012227	NP_036359	O43824	GTPB6_HUMAN	Homo sapiens GTP binding protein 6 (putative) (GTPBP6), mRNA.	295						intracellular	GTP binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CGGAGATCACGGGGAACTCCC	0.677000														29			15		0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43647461	43647461	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:43647461G>A	uc021omk.1	+	2	560	c.414G>A	c.(412-414)tgG>tgA	p.W138*	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Nonsense_Mutation_p.W127*|WDR65_uc001ciq.2_Nonsense_Mutation_p.W138*|WDR65_uc001cip.2_Nonsense_Mutation_p.W138*	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	138										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACTGGCTGTGGGAAAAACAGA	0.403000														8			60		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41765671	41765671	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:41765671G>A	uc010ehj.3	+	19	2737	c.2547G>A	c.(2545-2547)aaG>aaA	p.K849K	HNRNPUL1_uc002opz.4_5'Flank|HNRNPUL1_uc002oqa.4_5'Flank|AXL_uc010ehk.3_Silent_p.K840K|HNRNPUL1_uc010ehl.1_5'Flank	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	849						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CAGACCCTAAGGATTCCTGTA	0.597000														71			5		0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124792284	124792284	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:124792284C>T	uc003yqv.3	+	6	670	c.609C>T	c.(607-609)ctC>ctT	p.L203L	FAM91A1_uc011lik.1_Silent_p.L203L|FAM91A1_uc011lil.2_5'UTR	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA.	203										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GCCCTCAACTCTCTGGATCAC	0.328000														35			15		0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37364477	37364477	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:37364477G>A	uc003jku.1	-	1	285	c.167C>T	c.(166-168)aCc>aTc	p.T56I	NUP155_uc003jkt.1_5'UTR|NUP155_uc010iuz.1_Missense_Mutation_p.T56I	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	56					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCAGAAACGGTGGGATTATC	0.413000														47			5		0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698653	111698653	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:111698653C>T	uc022cct.1	+	0	697	c.697C>T	c.(697-699)Cca>Tca	p.P233S	ZCCHC16_uc004epo.1_Missense_Mutation_p.P233S	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	233							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GACCCAGCTCCCATTGTTGGC	0.517000														73			111		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18077114	18077114	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:18077114C>T	uc021trm.1	+	63	10589	c.10370C>T	c.(10369-10371)cCc>cTc	p.P3457L	MYO15A_uc021trl.1_Missense_Mutation_p.P3455L|MYO15A_uc010vxi.2_Missense_Mutation_p.P721L|MYO15A_uc002gsl.3_Silent_p.P489P|MYO15A_uc010vxm.2_Intron|MYO15A_uc010cpv.3_Intron	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	3457	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTGAAGTTCCCCCTGAAGGAG	0.637000														103			13		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469463	10469463	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:10469463G>A	uc003wtc.3	-	3	2374	c.2145C>T	c.(2143-2145)gcC>gcT	p.A715A		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	715					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)		GGTTCCCAGAGGCCTGTGTCC	0.607000														33			12		0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136314964	136314964	+	Silent	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:136314964C>T	uc004cdv.4	+	22	3366	c.2922C>T	c.(2920-2922)atC>atT	p.I974I	ADAMTS13_uc004cdp.4_Silent_p.I201I|ADAMTS13_uc004cdt.1_Silent_p.I974I|ADAMTS13_uc004cdu.1_Silent_p.I943I|ADAMTS13_uc004cdw.4_Silent_p.I974I|ADAMTS13_uc004cdx.4_Silent_p.I943I|ADAMTS13_uc004cdy.1_Non-coding_Transcript|ADAMTS13_uc004cdz.4_Silent_p.I644I	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	974	TSP type-1 6.				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)		TGCGGAGGATCCTGTATTGTG	0.662000														32			8		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106641898	106641898	+	RNA	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:106641898C>T	uc021ser.1	-	1493		c.29487G>A								Parts of antibodies, mostly variable regions.																		TGGGTGAAGTCTCACATGACT	0.587000														84			32		0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35232909	35232909	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:35232909C>T	uc001mvu.3	+	13	2157	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Missense_Mutation_p.P532S|CD44_uc001mvw.3_Missense_Mutation_p.P326S|CD44_uc001mwc.4_Missense_Mutation_p.P262S|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Missense_Mutation_p.P103S|CD44_uc010res.2_Missense_Mutation_p.P139S|CD44_uc010ret.2_Non-coding_Transcript	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	575	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	Golgi apparatus|cell surface|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	GACCTTCATCCCAGTGACCTC	0.443000														129			58		0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20129012	20129012	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:20129012C>T	uc002zrr.2	+	8	1191	c.1084C>T	c.(1084-1086)Ccc>Tcc	p.P362S	ZDHHC8_uc002zrq.3_Missense_Mutation_p.P362S|ZDHHC8_uc010gsa.3_Missense_Mutation_p.P168S	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	362						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GCCGGCTTTCCCCACGGGTCC	0.662000														30			4		0	0	1	0	0
CT45A1	541466	broad.mit.edu	37	X	134856789	134856789	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:134856789G>A	uc004eyy.3	+	4	809	c.564G>A	c.(562-564)atG>atA	p.M188I		NM_001017417	NP_001017417	Q5HYN5	CT451_HUMAN	Homo sapiens cancer/testis antigen family 45, member A1 (CT45A1), mRNA.	188																	TGAAACGTATGATTTGAGAAT	0.368000														473			39		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262989	140262989	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:140262989C>T	uc003lif.2	+	0	1136	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.S379F|PCDHAC2_uc003lid.3_Missense_Mutation_p.S379F	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	394	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCGTGACTCTGGCTCAAAT	0.532000														115			95		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981006	61981006	+	Splice_Site	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:61981006G>A	uc002yes.2	-	5	1936	c.1758_splice	c.e5+1	p.S586_splice	CHRNA4_uc002yet.1_Splice_Site_p.S410_splice|CHRNA4_uc010gke.1_Splice_Site_p.S515_splice|CHRNA4_uc002yev.1_Splice_Site_p.S410_splice|CHRNA4_uc010gkf.1_Splice_Site_p.S410_splice	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	586					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGGACTTACCGAGAAGTCTGT	0.687000														136			10		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546516	11546516	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:11546516C>T	uc010shk.1	-	2	531	c.496G>A	c.(496-498)Gga>Aga	p.G166R		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTTGTCTCCTTGTGGGGGT	0.607000														550			95		0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88814844	88814844	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:88814844G>A	uc010iko.1	+	3	1471	c.1471G>A	c.(1471-1473)Ggc>Agc	p.G491S						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		CTCCACCATGGGCTATATGAT	0.552000														122			20		0	0	1	0	0
OR6B2	389090	broad.mit.edu	37	2	240969789	240969789	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:240969789C>T	uc010zoc.2	-	0	58	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	OR6B2_uc002vyr.3_Missense_Mutation_p.A20T	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		AGCCCTGGGGCCGTGGGGAGG	0.582000														39			12		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	6030386	6030386	+	Silent	SNP	G	A	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:6030386G>A	uc001qnm.2	-	2	414	c.342C>T	c.(340-342)ttC>ttT	p.F114F	ANO2_uc021qtt.1_Silent_p.F118F	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	118						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGTGGCCAGGGAAGCCTTGGG	0.617000														39			5		0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1474274	1474274	+	Silent	SNP	G	A	A	rs150270558		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:1474274G>A	uc003skj.4	-	16	2820	c.2673C>T	c.(2671-2673)tcC>tcT	p.S891S	MICALL2_uc003ski.4_Nonsense_Mutation_p.Q377*	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	891						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		ACCAGATCTTGGACAAGCGGA	0.637000														143			19		0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	-	-			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:52883129delT	uc003pbh.2	-	8	1153	c.663_splice	c.e8+1	p.K221_splice	ICK_uc003pbi.2_Splice_Site_p.K221_splice|ICK_uc003pbj.3_Splice_Site_p.K221_splice	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	221	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502													---	463	---	---	7	---					
ZNF367	195828	broad.mit.edu	37	9	99154819	99154835	+	Splice_Site	DEL	CTTCAAAACACAAGGTT	-	-			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:99154819_99154835delCTTCAAAACACAAGGTT	uc004awf.3	-	4	1047	c.692_splice	c.e4-1	p.G231_splice	ZNF367_uc004awg.3_Intron	NM_153695	NP_710162	Q7RTV3	ZN367_HUMAN	Homo sapiens zinc finger protein 367 (ZNF367), mRNA.	231					regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				CTCAGGCAGCCTTCAAAACACAAGGTTAACACCTGTC	0.470													---	41	---	---	33	---					
VCL	7414	broad.mit.edu	37	10	75867067	75867072	+	In_Frame_Del	DEL	GGAGCC	-	-			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:75867067_75867072delGGAGCC	uc001jwd.3	+	16	2608_2613	c.2514_2519delGGAGCC	c.(2512-2520)caggagcct>cat	p.838_840QEP>H	VCL_uc009xrr.3_In_Frame_Del_p.587_589QEP>H|VCL_uc010qky.1_In_Frame_Del_p.745_747QEP>H|VCL_uc001jwe.3_In_Frame_Del_p.838_840QEP>H|VCL_uc010qkz.2_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	838	Linker (Pro-rich).|Pro-rich.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TCCAACCTCAGGAGCCTGACTTCCCG	0.510													---	18	---	---	16	---					
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	Splice_Site	INS	-	T	T	rs35342965	by1000genomes	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:102738793_102738794insT	uc001phk.3	-	5	727	c.630_splice	c.e5+1	p.T210_splice		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	210					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGAGGAACAAGTGGTGCCTAAG	0.416													---	7	---	---	4	---					
LRIG3	121227	broad.mit.edu	37	12	59268350	59268351	+	Frame_Shift_Ins	INS	-	G	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:59268350_59268351insG	uc001sqr.3	-	16	2946_2947	c.2700_2701insC	c.(2698-2703)acctgcfs	p.T900fs	LRIG3_uc009zqh.3_Frame_Shift_Ins_p.T840fs|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	900						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TCAATATGGCAGGTCCCTTTGA	0.401			T	ROS1	NSCLC								---	918	---	---	8	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:122812690_122812691insT	uc001ucg.2	-	16	3207_3208	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_uc001uch.1_Frame_Shift_Ins_p.S1007fs|CLIP1_uc001uci.1_Frame_Shift_Ins_p.S972fs|CLIP1_uc001ucj.1_Frame_Shift_Ins_p.S593fs	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													---	210	---	---	12	---					
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	T	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr13:79918806_79918807insT	uc001vkz.2	-	14	2201_2202	c.2187_2188insA	c.(2185-2190)aaacagfs	p.K729fs	RBM26_uc001vky.2_Frame_Shift_Ins_p.K700fs|RBM26_uc001vla.2_Frame_Shift_Ins_p.K703fs|RBM26_uc001vkx.2_Frame_Shift_Ins_p.K439fs|RBM26_uc010tia.2_Frame_Shift_Ins_p.K84fs	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	727					mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332													---	81	---	---	7	---					
LLGL2	3993	broad.mit.edu	37	17	73569700	73569701	+	Frame_Shift_Ins	INS	-	G	G	rs112393371	byFrequency	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:73569700_73569701insG	uc002joh.3	+	20	3018_3019	c.2864_2865insG	c.(2863-2865)ccgfs	p.P955fs	LLGL2_uc002joi.3_Frame_Shift_Ins_p.P955fs|LLGL2_uc010dgg.2_Frame_Shift_Ins_p.P955fs|LLGL2_uc002joj.3_Frame_Shift_Ins_p.P944fs|LLGL2_uc010wsd.2_Frame_Shift_Ins_p.P582fs	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	955					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAAGGCCCCGAGCCGAGCCA	0.668													---	41	---	---	8	---					
SPIN3	169981	broad.mit.edu	37	X	57021207	57021216	+	Frame_Shift_Del	DEL	CCATCCGTGC	-	-			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:57021207_57021216delCCATCCGTGC	uc022bxv.1	-	0	165_174	c.165_174delGCACGGATGG	c.(163-174)cagcacggatggfs	p.Q55fs	SPIN3_uc004duu.4_Non-coding_Transcript|SPIN3_uc004duw.4_Non-coding_Transcript|SPIN3_uc004duv.4_Non-coding_Transcript|SPIN3_uc010nkj.2_Frame_Shift_Del_p.Q55fs|SPIN3_uc004dux.1_Frame_Shift_Del_p.Q55fs	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN	Homo sapiens spindlin family, member 3 (SPIN3), transcript variant 1, mRNA.	55					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						CTCCATCTTTCCATCCGTGCTGAATTCTGC	0.486													---	148	---	---	30	---