Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
C1orf101	257044	broad.mit.edu	37	1	244724073	244724073	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:244724073A>T	ENST00000366534.4	+	10	1187	c.1133A>T	c.(1132-1134)aAa>aTa	p.K378I	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.K378I|C1orf101_ENST00000366531.3_Missense_Mutation_p.K227I	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	378						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ACAGAACTGAAAAACATCCTA	0.403000													8	155					0	0	0.006214	0	0
PLAT	5327	broad.mit.edu	37	8	42038173	42038173	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:42038173G>A	ENST00000220809.4	-	10	1176	c.920C>T	c.(919-921)cCt>cTt	p.P307L	PLAT_ENST00000524009.1_Missense_Mutation_p.P218L|PLAT_ENST00000429710.2_Missense_Mutation_p.P181L|PLAT_ENST00000519510.1_Missense_Mutation_p.P244L|PLAT_ENST00000352041.3_Missense_Mutation_p.P261L|PLAT_ENST00000429089.2_Missense_Mutation_p.P307L|PLAT_ENST00000270189.6_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	307					blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCGAAACTGAGGCTGGCTGTA	0.632000													48	115					0	0	0.014410	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060387	35060387	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:35060387C>A	ENST00000373913.3	+	3	747	c.267C>A	c.(265-267)ccC>ccA	p.P89P	DLGAP4_ENST00000339266.5_Silent_p.P89P|DLGAP4_ENST00000373907.2_Silent_p.P89P|DLGAP4_ENST00000401952.2_Silent_p.P89P			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	89					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCCCCTTCCCCAGCCATGCCC	0.632000													16	87					0.00332997	0.00362565	0.003330	1	0
DOCK4	9732	broad.mit.edu	37	7	111541793	111541793	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:111541793G>C	ENST00000428084.1	-	14	1529	c.1257C>G	c.(1255-1257)agC>agG	p.S419R	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.S419R			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	419	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTCTGGCCACGCTCTTCCCTC	0.363000													3	80					0	0	0.009096	0	0
CR2	1380	broad.mit.edu	37	1	207642565	207642565	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:207642565C>A	ENST00000367057.3	+	5	994	c.805C>A	c.(805-807)Cca>Aca	p.P269T	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Missense_Mutation_p.P269T|CR2_ENST00000367059.3_Missense_Mutation_p.P269T|CR2_ENST00000458541.2_Missense_Mutation_p.P269T	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	269	Sushi 4.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GACCAAAATGCCAGTATGTGA	0.458000													11	237					0.000978159	0.00109912	0.010729	1	0
OCA2	4948	broad.mit.edu	37	15	28090145	28090145	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:28090145C>A	ENST00000354638.3	-	23	2547	c.2392G>T	c.(2392-2394)Gaa>Taa	p.E798*	OCA2_ENST00000353809.5_Nonsense_Mutation_p.E774*	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	798					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCATGCTGTTCTGCAATCCCT	0.388000									Oculocutaneous Albinism				13	81					7.93312e-07	1.05691e-06	0.002450	1	0
CNGA3	1261	broad.mit.edu	37	2	99012816	99012816	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:99012816A>T	ENST00000393504.1	+	8	1600	c.1183A>T	c.(1183-1185)Att>Ttt	p.I395F	CNGA3_ENST00000436404.2_Missense_Mutation_p.I377F|CNGA3_ENST00000409937.1_Missense_Mutation_p.I399F|CNGA3_ENST00000272602.2_Missense_Mutation_p.I395F	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	395					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTTTGCCACCATTGTGGGCAA	0.507000													12	103					0	0	0.001855	0	0
ATRNL1	26033	broad.mit.edu	37	10	117024724	117024724	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:117024724G>T	ENST00000355044.3	+	11	1868	c.1742G>T	c.(1741-1743)aGa>aTa	p.R581I		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	581						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GATGTCAACAGATTTGGACAC	0.313000													20	113					1.10513e-12	1.77581e-12	0.014323	1	0
N4BP1	9683	broad.mit.edu	37	16	48581955	48581955	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:48581955T>A	ENST00000262384.3	-	5	2424	c.2188A>T	c.(2188-2190)Aat>Tat	p.N730Y	N4BP1_ENST00000565423.1_5'UTR	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	730					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				ACTGACTCATTCACAAATTCT	0.308000													14	197					0	0	0.004007	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030242	95030242	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:95030242T>A	ENST00000557004.1	+	2	844	c.423T>A	c.(421-423)agT>agA	p.S141R	SERPINA4_ENST00000555095.1_Missense_Mutation_p.S141R|SERPINA4_ENST00000298841.5_Missense_Mutation_p.S141R|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	141					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GCGTGGGCAGTGCTCTGTTCC	0.552000													6	245					0	0	0.001984	0	0
FAR1	84188	broad.mit.edu	37	11	13736149	13736149	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:13736149A>T	ENST00000354817.3	+	9	1193	c.1049A>T	c.(1048-1050)cAt>cTt	p.H350L	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	350					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CTTTTATATCATTACTGGATT	0.438000													4	88					0	0	0.009096	0	0
OAS3	4940	broad.mit.edu	37	12	113403719	113403719	+	Silent	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:113403719C>G	ENST00000228928.7	+	12	2753	c.2574C>G	c.(2572-2574)gtC>gtG	p.V858V	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	858	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AGTTCGAGGTCAAGTTTGAAG	0.572000													3	25					0	0	0.004672	0	0
PAX6	5080	broad.mit.edu	37	11	31812340	31812340	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:31812340C>A	ENST00000419022.1	-	13	1611	c.1143G>T	c.(1141-1143)cgG>cgT	p.R381R	PAX6_ENST00000379129.2_Silent_p.R381R|PAX6_ENST00000379107.2_Silent_p.R381R|PAX6_ENST00000241001.8_Silent_p.R367R|PAX6_ENST00000379115.4_Silent_p.R381R|PAX6_ENST00000379132.3_Silent_p.R367R|PAX6_ENST00000379123.5_Silent_p.R367R|PAX6_ENST00000379111.2_Silent_p.R367R	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	367	Pro/Ser/Thr-rich.		M -> V (in BONH).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TATCATAACTCCGCCCATTCA	0.577000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				5	91					3.59834e-05	4.34899e-05	0.001168	1	0
OR10A5	144124	broad.mit.edu	37	11	6867266	6867266	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:6867266C>T	ENST00000299454.4	+	1	384	c.353C>T	c.(352-354)aCc>aTc	p.T118I	OR10A5_ENST00000379831.2_Missense_Mutation_p.T122I			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCCTGGCTACCATGGCATAT	0.532000													14	143					0	0	0.003163	0	0
ELTD1	64123	broad.mit.edu	37	1	79383636	79383636	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:79383636C>G	ENST00000370742.3	-	11	1624	c.1561G>C	c.(1561-1563)Ggt>Cgt	p.G521R		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	521					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TAGATGACACCCACAACAATG	0.423000													16	244					0	0	0.004990	0	0
CDH7	1005	broad.mit.edu	37	18	63430226	63430226	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:63430226G>A	ENST00000536984.2	+	2	842	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	CDH7_ENST00000323011.3_Missense_Mutation_p.V50M|CDH7_ENST00000397968.2_Missense_Mutation_p.V50M			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	50	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GCGCAGCTGGGTGTGGAATCA	0.463000													4	102					0	0	0.009096	0	0
LAMP5	24141	broad.mit.edu	37	20	9498868	9498868	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:9498868C>T	ENST00000246070.2	+	5	1149	c.657C>T	c.(655-657)ttC>ttT	p.F219F	LAMP5_ENST00000427562.2_Silent_p.F175F	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	219						integral to membrane											ATTTTGTCTTCAGTGAAGGTA	0.488000													14	65					0	0	0.004007	0	0
TEX15	56154	broad.mit.edu	37	8	30695554	30695554	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:30695554C>T	ENST00000256246.2	-	3	7171	c.7097G>A	c.(7096-7098)aGc>aAc	p.S2366N		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2366										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTGTTTTCGCTTTTGGGATG	0.308000													6	193					0	0	0.004482	0	0
MYO5C	55930	broad.mit.edu	37	15	52515776	52515776	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:52515776G>A	ENST00000261839.7	-	29	3753	c.3592C>T	c.(3592-3594)Cgt>Tgt	p.R1198C		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1198						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ACTTCATGACGGATGCTTTCA	0.453000													5	159					0	0	0.003080	0	0
BLK	640	broad.mit.edu	37	8	11405588	11405588	+	Silent	SNP	C	C	A	rs149393791	byFrequency	TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:11405588C>A	ENST00000259089.4	+	4	815	c.223C>A	c.(223-225)Cgg>Agg	p.R75R	BLK_ENST00000529894.1_Silent_p.R4R	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	75	SH3.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TATGAATGATCGGGACCTGCA	0.567000													7	95					9.70103e-10	1.43976e-09	0.008291	1	0
GRAMD1B	57476	broad.mit.edu	37	11	123484258	123484258	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:123484258A>T	ENST00000529750.1	+	15	2017	c.1690A>T	c.(1690-1692)Agg>Tgg	p.R564W	GRAMD1B_ENST00000450171.2_Missense_Mutation_p.R255W|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.R571W|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.R564W	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	564						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GGTGCGGAGGAGGAAGCGTCC	0.572000													6	78					0	0	0.001168	0	0
HEXDC	284004	broad.mit.edu	37	17	80399059	80399059	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:80399059C>T	ENST00000337014.6	+	10	1643	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F	HEXDC_ENST00000327949.9_Silent_p.F360F|HEXDC_ENST00000577944.1_Missense_Mutation_p.P363S	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	0					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCGGCTCCTTCCCTGGCAGCA	0.657000													3	49					0	0	0.004672	0	0
WARS	7453	broad.mit.edu	37	14	100820854	100820854	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:100820854G>C	ENST00000355338.2	-	5	1090	c.472C>G	c.(472-474)Ctg>Gtg	p.L158V	WARS_ENST00000556645.1_Missense_Mutation_p.L117V|WARS_ENST00000392882.2_Missense_Mutation_p.L158V|WARS_ENST00000358655.4_Missense_Mutation_p.L117V|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000557135.1_Missense_Mutation_p.L158V|WARS_ENST00000344102.5_Missense_Mutation_p.L117V	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	158					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CCCGTGTACAGATAAAATGGC	0.383000													13	141					0	0	0.013537	0	0
CAMK2B	816	broad.mit.edu	37	7	44283045	44283045	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:44283045C>A	ENST00000395749.2	-	7	572	c.496G>T	c.(496-498)Ggg>Tgg	p.G166W	CAMK2B_ENST00000502837.2_Missense_Mutation_p.G37W|CAMK2B_ENST00000440254.2_Missense_Mutation_p.G166W|CAMK2B_ENST00000457475.1_Missense_Mutation_p.G166W|CAMK2B_ENST00000358707.3_Missense_Mutation_p.G166W|CAMK2B_ENST00000347193.4_Missense_Mutation_p.G166W|CAMK2B_ENST00000353625.4_Missense_Mutation_p.G166W|CAMK2B_ENST00000350811.3_Missense_Mutation_p.G166W|CAMK2B_ENST00000346990.4_Missense_Mutation_p.G166W|CAMK2B_ENST00000395747.2_Missense_Mutation_p.G166W|CAMK2B_ENST00000258682.6_Missense_Mutation_p.G166W	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	166	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TGCTGGTCCCCCTGCACCTCG	0.637000													8	58					3.86212e-05	4.64558e-05	0.008291	1	0
TBC1D8B	54885	broad.mit.edu	37	X	106108791	106108791	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:106108791G>T	ENST00000357242.5	+	15	2529	c.2355G>T	c.(2353-2355)ttG>ttT	p.L785F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.L779F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	785						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTTAAAGTTGCGTGTTGTAT	0.303000													5	54					5.18039e-06	6.61561e-06	0.003080	1	0
ILDR2	387597	broad.mit.edu	37	1	166896340	166896340	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:166896340C>T	ENST00000271417.3	-	7	1013	c.958G>A	c.(958-960)Gct>Act	p.A320T	ILDR2_ENST00000528703.1_Missense_Mutation_p.A261T|ILDR2_ENST00000469934.2_Missense_Mutation_p.A320T|ILDR2_ENST00000526687.1_Missense_Mutation_p.A212T|ILDR2_ENST00000529071.1_Missense_Mutation_p.A301T|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000525740.1_Missense_Mutation_p.A193T	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	320						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TCAAACTGAGCCAGCTCCTTC	0.463000													18	238					0	0	0.008871	0	0
ESRRG	2104	broad.mit.edu	37	1	216850620	216850620	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:216850620G>T	ENST00000391890.3	-	4	718	c.201C>A	c.(199-201)atC>atA	p.I67I	ESRRG_ENST00000366938.2_Silent_p.I67I|ESRRG_ENST00000361525.3_Silent_p.I67I|ESRRG_ENST00000366940.2_Silent_p.I67I|ESRRG_ENST00000361395.2_Silent_p.I67I|ESRRG_ENST00000359162.2_Silent_p.I67I|ESRRG_ENST00000408911.3_Silent_p.I90I|ESRRG_ENST00000360012.3_Silent_p.I67I|ESRRG_ENST00000366937.1_Silent_p.I95I|ESRRG_ENST00000463665.1_Silent_p.I67I|ESRRG_ENST00000493603.1_Silent_p.I67I|ESRRG_ENST00000487276.1_Silent_p.I67I|ESRRG_ENST00000493748.1_Silent_p.I67I	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	90					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TACCTCCCAGGATAGGAGCAG	0.537000													16	250					1.99824e-07	2.75521e-07	0.004990	1	0
ITGA4	3676	broad.mit.edu	37	2	182388194	182388194	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:182388194G>C	ENST00000397033.2	+	19	2534	c.2104G>C	c.(2104-2106)Gat>Cat	p.D702H		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	702					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGAAGTCACAGATAACTCTGG	0.343000													13	192					0	0	0.003163	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162442	90162442	+	RNA	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:90162442G>A	ENST00000564451.1	+	0	1795				TUBB8P7_ENST00000567960.1_RNA																							CAGGCGCAAGGCCTTCCTCCA	0.498000													6	98					0	0	0.004482	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47109330	47109330	+	Silent	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:47109330C>G	ENST00000290341.3	+	5	730	c.396C>G	c.(394-396)acC>acG	p.T132T	IGF2BP1_ENST00000515586.1_3'UTR|IGF2BP1_ENST00000431824.2_Silent_p.T132T	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	132	RRM 2.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGGAGCAGACCAGGCAGTGAG	0.587000											OREG0024529	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	202					0	0	0.007291	0	0
SLC40A1	30061	broad.mit.edu	37	2	190426728	190426728	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:190426728A>T	ENST00000261024.2	-	8	2018	c.1592T>A	c.(1591-1593)gTg>gAg	p.V531E		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	531					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GCCCATTGCCACAAAGGAGAC	0.423000													10	83					0	0	0.008291	0	0
RASGRP3	25780	broad.mit.edu	37	2	33749025	33749025	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:33749025A>G	ENST00000403687.3	+	8	1336	c.596A>G	c.(595-597)aAt>aGt	p.N199S	RASGRP3_ENST00000407811.1_Missense_Mutation_p.N199S|RASGRP3_ENST00000402538.3_Missense_Mutation_p.N199S	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	199	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GCTTTATTTAATGGAATCTCT	0.418000													19	329					0	0	0.007413	0	0
CYYR1	116159	broad.mit.edu	37	21	27840827	27840827	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr21:27840827C>T	ENST00000299340.4	-	4	801	c.458G>A	c.(457-459)aGg>aAg	p.R153K	AP001596.6_ENST00000429340.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000421771.1_RNA|AP001597.1_ENST00000414486.1_RNA|AP001597.1_ENST00000357401.3_RNA|AP001596.6_ENST00000444306.1_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	153						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						AGATTATTTCCTTGCGTTTCC	0.512000													14	192					0	0	0.004007	0	0
LPA	4018	broad.mit.edu	37	6	161016506	161016506	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:161016506T>A	ENST00000447678.1	-	22	3469	c.3349A>T	c.(3349-3351)Atg>Ttg	p.M1117L	LPA_ENST00000316300.5_Missense_Mutation_p.M1117L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3625	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGGGATCCATGGTGTAACAC	0.517000													13	145					0	0	0.004007	0	0
PASK	23178	broad.mit.edu	37	2	242054438	242054438	+	Missense_Mutation	SNP	C	C	A	rs140703087	by1000genomes	TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:242054438C>A	ENST00000403638.3	-	14	3444	c.3353G>T	c.(3352-3354)cGt>cTt	p.R1118L	PASK_ENST00000539818.1_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000234040.4_Intron|PASK_ENST00000405260.1_Intron|PASK_ENST00000358649.4_Splice_Site_p.R1118_splice	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	0	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CACACTAACACGGCTCTGGCC	0.597000													15	223					8.00594e-06	1.01725e-05	0.007413	1	0
NLGN2	57555	broad.mit.edu	37	17	7317711	7317711	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:7317711G>A	ENST00000302926.2	+	3	630	c.557G>A	c.(556-558)gGc>gAc	p.G186D	NLGN2_ENST00000575301.1_Missense_Mutation_p.G186D	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	186					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CTCCATGGCGGCTCCTACATG	0.597000													3	30					0	0	0.004672	0	0
USP20	10868	broad.mit.edu	37	9	132637849	132637849	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr9:132637849C>T	ENST00000315480.4	+	21	2387	c.2229C>T	c.(2227-2229)ccC>ccT	p.P743P	USP20_ENST00000358355.1_Silent_p.P743P|USP20_ENST00000372429.3_Silent_p.P743P			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	743	DUSP 1.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GCATCCCGCCCCACAAATACC	0.637000													5	59					0	0	0.000602	0	0
CTIF	9811	broad.mit.edu	37	18	46197047	46197047	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:46197047A>T	ENST00000256413.3	+	6	734	c.439A>T	c.(439-441)Aaa>Taa	p.K147*	CTIF_ENST00000382998.4_Nonsense_Mutation_p.K147*	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	147	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CAGGTGTGGCAAAGGGAAGCT	0.562000													5	206					0	0	0.001984	0	0
SQRDL	58472	broad.mit.edu	37	15	45974832	45974832	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:45974832C>T	ENST00000260324.7	+	7	1407	c.1021C>T	c.(1021-1023)Cct>Tct	p.P341S	SQRDL_ENST00000568606.1_Missense_Mutation_p.P341S	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	341							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CACCAACCTTCCTACGTCAAA	0.473000													19	107					0	0	0.012319	0	0
MYT1L	23040	broad.mit.edu	37	2	1891293	1891293	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:1891293G>C	ENST00000399161.2	-	17	3356	c.2609C>G	c.(2608-2610)cCt>cGt	p.P870R	MYT1L_ENST00000428368.2_Missense_Mutation_p.P868R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	870					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTTGCACTGAGGGTACTTGGG	0.453000													11	168					0	0	0.010729	0	0
FCRL5	83416	broad.mit.edu	37	1	157508936	157508936	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:157508936A>G	ENST00000361835.3	-	7	1499	c.1342T>C	c.(1342-1344)Tgc>Cgc	p.C448R	FCRL5_ENST00000356953.4_Missense_Mutation_p.C448R|FCRL5_ENST00000368189.3_Missense_Mutation_p.C448R|FCRL5_ENST00000368191.3_Missense_Mutation_p.C363R|FCRL5_ENST00000368190.3_Missense_Mutation_p.C448R	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	448	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TCAGCTGTGCAGTAGTAGTTC	0.597000													5	143					0	0	0.003080	0	0
CACNA1E	777	broad.mit.edu	37	1	181706782	181706782	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:181706782C>T	ENST00000526775.1	+	22	3652	c.3487C>T	c.(3487-3489)Cgc>Tgc	p.R1163C	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1133C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1163C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R789C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1182C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1114C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1182C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1182					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						CAACTCGGAGCGCAACAAAGT	0.597000													22	210					0	0	0.003954	0	0
KDM5C	8242	broad.mit.edu	37	X	53230827	53230827	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:53230827C>T	ENST00000452825.3	-	12	2297	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K	KDM5C_ENST00000404049.3_Missense_Mutation_p.E655K|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375379.3_Missense_Mutation_p.E656K|KDM5C_ENST00000375383.3_Missense_Mutation_p.E615K|KDM5C_ENST00000375401.3_Missense_Mutation_p.E656K	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	656	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TCTAGCTTCTCTGGGCAGGCA	0.587000			"""N, F, S"""		clear cell renal carcinoma								20	59					0	0	0.003954	0	0
FIBIN	387758	broad.mit.edu	37	11	27016683	27016683	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:27016683C>T	ENST00000318627.2	+	1	1056	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	204						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						ACTAGGTCGGCTGAAAAATGA	0.517000													15	108					0	0	0.007413	0	0
CDRT1	374286	broad.mit.edu	37	17	15522550	15522550	+	Missense_Mutation	SNP	C	C	G	rs144714395	by1000genomes	TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:15522550C>G	ENST00000395906.3	-	1	276	c.277G>C	c.(277-279)Gac>Cac	p.D93H	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	93										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TTGCTGAGGTCGATCCGGGAC	0.388000													4	191					0	0	0.000602	0	0
USH2A	7399	broad.mit.edu	37	1	216495249	216495249	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:216495249C>A	ENST00000366943.2	-	9	2006	c.1620G>T	c.(1618-1620)caG>caT	p.Q540H	USH2A_ENST00000366942.3_Missense_Mutation_p.Q540H|USH2A_ENST00000307340.3_Missense_Mutation_p.Q540H			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	540	Laminin EGF-like 1.				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)		TGAAGCTCTCCTGGGAGCAGA	0.413000										HNSCC(13;0.011)			10	237					3.99206e-14	6.54801e-14	0.007413	1	0
COASY	80347	broad.mit.edu	37	17	40716806	40716806	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:40716806A>C	ENST00000393818.2	+	4	1583	c.1127A>C	c.(1126-1128)cAg>cCg	p.Q376P	COASY_ENST00000449624.1_Missense_Mutation_p.Q81P|COASY_ENST00000590958.1_Missense_Mutation_p.Q405P|COASY_ENST00000420359.1_Missense_Mutation_p.Q376P|COASY_ENST00000421097.2_Missense_Mutation_p.Q376P	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	376	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TCAATAGCTCAGCGACTGAAG	0.592000													5	83					0	0	0.001168	0	0
ABCA12	26154	broad.mit.edu	37	2	215847000	215847000	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:215847000G>C	ENST00000272895.7	-	30	4709	c.4490C>G	c.(4489-4491)tCa>tGa	p.S1497*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.S1179*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1497	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TACTACCCTTGATCCACCAAT	0.408000													21	229					0	0	0.008871	0	0
WDR7	23335	broad.mit.edu	37	18	54591323	54591323	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:54591323G>C	ENST00000254442.3	+	22	3908	c.3697G>C	c.(3697-3699)Gag>Cag	p.E1233Q	WDR7_ENST00000357574.3_Missense_Mutation_p.E1200Q|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1233										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCCGATGCCGAGAAACAACT	0.428000													13	347					0	0	0.002450	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149388	142149388	+	RNA	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:142149388C>A	ENST00000390372.3	-	0	11																											GAGCCCAGGGCCCATGGCACA	0.602000													8	177					7.48243e-07	1.00109e-06	0.006214	1	0
PTPN13	5783	broad.mit.edu	37	4	87687592	87687592	+	Silent	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:87687592C>G	ENST00000436978.1	+	27	4746	c.4266C>G	c.(4264-4266)cgC>cgG	p.R1422R	PTPN13_ENST00000316707.6_Silent_p.R1226R|PTPN13_ENST00000427191.2_Silent_p.R1398R|PTPN13_ENST00000511467.1_Silent_p.R1422R|PTPN13_ENST00000411767.2_Silent_p.R1417R	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1417	PDZ 2.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TAGGTGATCGCGTCCTAGCTG	0.378000													6	52					0	0	0.003080	0	0
FLG	2312	broad.mit.edu	37	1	152279965	152279965	+	Missense_Mutation	SNP	G	G	T	rs149160509		TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:152279965G>T	ENST00000368799.1	-	3	7432	c.7397C>A	c.(7396-7398)cCg>cAg	p.P2466Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2466	Ser-rich.			P -> R (in Ref. 3; AAA52454).	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.P2466Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTTGACCCCGGGTGTCCATG	0.572000									Ichthyosis				20	363					1.87028e-06	2.45038e-06	0.012319	1	0
HYDIN	54768	broad.mit.edu	37	16	70891626	70891626	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:70891626A>T	ENST00000393567.2	-	72	12427	c.12277T>A	c.(12277-12279)Ttc>Atc	p.F4093I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4093										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGAGAGCTGAAGTTGAGGTGT	0.488000													9	93					0	0	0.001855	0	0
ETS1	2113	broad.mit.edu	37	11	128359246	128359246	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:128359246G>A	ENST00000392668.3	-	5	542	c.474C>T	c.(472-474)ctC>ctT	p.L158L	ETS1_ENST00000535549.1_Intron|ETS1_ENST00000345075.4_Silent_p.L114L|ETS1_ENST00000526145.1_Silent_p.L114L|ETS1_ENST00000319397.5_Silent_p.L114L|ETS1_ENST00000531611.1_Silent_p.L114L	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	114					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GGGCCAGCTCGAGAAAGCAGT	0.488000													27	801					0	0	0.006320	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756290	94756290	+	Missense_Mutation	SNP	C	C	G	rs145668993		TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:94756290C>G	ENST00000554723.1	-	2	1179	c.761G>C	c.(760-762)cGg>cCg	p.R254P	SERPINA10_ENST00000261994.4_Missense_Mutation_p.R214P|SERPINA10_ENST00000554173.1_Missense_Mutation_p.R214P|SERPINA10_ENST00000393096.1_Missense_Mutation_p.R214P			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	214					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AATTTTCCCCCGAGTCTCTTT	0.373000													13	175					0	0	0.001855	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508121	37508121	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:37508121G>A	ENST00000374660.1	+	40	3769	c.3670G>A	c.(3670-3672)Gca>Aca	p.A1224T	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A1105T|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A1105T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1170						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACTAAAAGGGCATCTCAATA	0.333000													17	349					0	0	0.006122	0	0
FLI1	2313	broad.mit.edu	37	11	128651903	128651903	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:128651903T>G	ENST00000344954.6	+	5	929	c.541T>G	c.(541-543)Ttg>Gtg	p.L181V	FLI1_ENST00000534087.1_Missense_Mutation_p.L181V|FLI1_ENST00000281428.8_Missense_Mutation_p.L148V|FLI1_ENST00000525560.1_Missense_Mutation_p.L21V|FLI1_ENST00000429175.2_Missense_Mutation_p.L214V			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	214	PNT.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		ATCCTCACGATTGAGTGTCAA	0.413000			T	EWSR1	Ewing sarcoma								16	234					0	0	0.007413	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546420	112546420	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:112546420G>T	ENST00000488794.1	-	5	750	c.161C>A	c.(160-162)cCt>cAt	p.P54H	CD200R1L_ENST00000398214.1_Missense_Mutation_p.P75H|CD200R1L_ENST00000448932.1_Missense_Mutation_p.P54H			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	75	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TGTGCAGGAAGGCTGGCCTCT	0.418000													74	200					6.72169e-28	1.18901e-27	0.014410	1	0
DHX15	1665	broad.mit.edu	37	4	24541735	24541735	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:24541735C>A	ENST00000336812.4	-	10	1938	c.1782G>T	c.(1780-1782)ttG>ttT	p.L594F		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	594					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TATTACCTGACAACATAGCAG	0.373000													11	75					2.27111e-07	3.11784e-07	0.013537	1	0
EEA1	8411	broad.mit.edu	37	12	93226317	93226317	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:93226317C>A	ENST00000322349.8	-	11	1489	c.1225G>T	c.(1225-1227)Ggg>Tgg	p.G409W		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	409	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AGTTGTAACCCATGCTGCTCC	0.373000													55	313					1.08141e-31	1.91559e-31	0.014410	1	0
METTL2B	55798	broad.mit.edu	37	7	128138162	128138162	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:128138162C>A	ENST00000480046.1	+	6	802	c.687C>A	c.(685-687)ggC>ggA	p.G229G	METTL2B_ENST00000262432.8_Silent_p.G294G			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	294							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GAGATTACGGCCGCTATGACA	0.473000													10	45					7.48243e-07	1.00109e-06	0.006214	1	0
SLITRK2	84631	broad.mit.edu	37	X	144904467	144904467	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:144904467G>C	ENST00000370490.1	+	1	4779	c.524G>C	c.(523-525)aGc>aCc	p.S175T	SLITRK2_ENST00000447897.2_Missense_Mutation_p.S175T|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S175T|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S175T|SLITRK2_ENST00000428560.2_Missense_Mutation_p.S175T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	175						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCACTGCCCAGCAATGTGTTC	0.483000													3	95					0	0	0.004672	0	0
CUL9	23113	broad.mit.edu	37	6	43152140	43152140	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:43152140G>A	ENST00000252050.4	+	2	176	c.92G>A	c.(91-93)gGg>gAg	p.G31E	CUL9_ENST00000372647.2_Missense_Mutation_p.G31E|CUL9_ENST00000354495.3_Missense_Mutation_p.G31E	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	31					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAGAGGCCTGGGCATGACGGG	0.582000													15	77					0	0	0.003163	0	0
SERPING1	710	broad.mit.edu	37	11	57373895	57373895	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:57373895A>C	ENST00000403558.1	+	5	1399	c.1033A>C	c.(1033-1035)Aca>Cca	p.T345P	SERPING1_ENST00000278407.4_Missense_Mutation_p.T302P|SERPING1_ENST00000378323.4_Missense_Mutation_p.T307P|SERPING1_ENST00000378324.2_Missense_Mutation_p.T250P|SERPING1_ENST00000340687.6_Missense_Mutation_p.T302P	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	302			G -> R (in HAE; type 1).		blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GTGGAAGACAACATTTGATCC	0.438000													15	194					0	0	0.003163	0	0
NRDE2	55051	broad.mit.edu	37	14	90754624	90754624	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:90754624T>A	ENST00000354366.3	-	11	3327	c.3095A>T	c.(3094-3096)gAg>gTg	p.E1032V	NRDE2_ENST00000357904.3_Missense_Mutation_p.E801V	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		CAACCAAGGCTCCAAGGGTTT	0.473000													13	53					0	0	0.003163	0	0
HMCN1	83872	broad.mit.edu	37	1	186158652	186158652	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:186158652T>C	ENST00000271588.4	+	107	16779	c.16550T>C	c.(16549-16551)cTc>cCc	p.L5517P	HMCN1_ENST00000367492.2_Missense_Mutation_p.L5400P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5517					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGTTCTGCCTCAAGAACTGT	0.428000													5	276					0	0	0.001984	0	0
GTF3C1	2975	broad.mit.edu	37	16	27519926	27519926	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:27519926T>C	ENST00000356183.4	-	8	1192	c.1177A>G	c.(1177-1179)Atg>Gtg	p.M393V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.M393V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	393						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCCACATTCATAGCCACTCGG	0.468000													4	84					0	0	0.004482	0	0
COX8C	341947	broad.mit.edu	37	14	93814419	93814419	+	Missense_Mutation	SNP	C	C	G	rs113042438		TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:93814419C>G	ENST00000342144.2	+	2	250	c.172C>G	c.(172-174)Cca>Gca	p.P58A	UNC79_ENST00000256339.4_Intron	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIC	58						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity			large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		CTTCTTAACACCAGCTGCATA	0.448000													19	144					0	0	0.008871	0	0
PLAG1	5324	broad.mit.edu	37	8	57080713	57080713	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:57080713C>A	ENST00000316981.3	-	4	595	c.116G>T	c.(115-117)tGt>tTt	p.C39F	PLAG1_ENST00000423799.2_Intron|PLAG1_ENST00000429357.2_Missense_Mutation_p.C39F	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	39	Interacts with KPNA2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GGCCTTGTCACACAGTTGGCA	0.458000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								3	82					0.00024832	0.000289592	0.009096	1	0
BANK1	55024	broad.mit.edu	37	4	102994847	102994847	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:102994847G>T	ENST00000504592.1	+	20	2678	c.2260G>T	c.(2260-2262)Gct>Tct	p.A754S	BANK1_ENST00000508653.1_Missense_Mutation_p.A636S|BANK1_ENST00000428908.1_Missense_Mutation_p.A636S|BANK1_ENST00000444316.2_Missense_Mutation_p.A739S|BANK1_ENST00000322953.4_Missense_Mutation_p.A769S			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	769					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)		TCAGCTTCCTGCTCGACCCCA	0.308000													8	173					7.48243e-07	1.00109e-06	0.006214	1	0
XIRP2	129446	broad.mit.edu	37	2	168107271	168107271	+	Silent	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:168107271T>C	ENST00000409195.1	+	9	9458	c.9369T>C	c.(9367-9369)ttT>ttC	p.F3123F	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.F3123F|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.F2901F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2948					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CACCAACTTTTATCACAATAG	0.433000													27	299					0	0	0.007291	0	0
KIF16B	55614	broad.mit.edu	37	20	16360305	16360305	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:16360305C>A	ENST00000354981.2	-	19	2499	c.2342G>T	c.(2341-2343)cGt>cTt	p.R781L	KIF16B_ENST00000355755.3_Missense_Mutation_p.R781L|KIF16B_ENST00000408042.1_Missense_Mutation_p.R781L|KIF16B_ENST00000378003.2_Missense_Mutation_p.R7L	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	781	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.R781H(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TACCTCCCCACGCCGCAGGAG	0.592000													16	361					1.55795e-14	2.56209e-14	0.012319	1	0
IFNLR1	163702	broad.mit.edu	37	1	24484251	24484251	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:24484251G>T	ENST00000327535.1	-	7	944	c.932C>A	c.(931-933)cCa>cAa	p.P311Q	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Missense_Mutation_p.P282Q	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		TTGGGTGGCTGGGGCCCTGAC	0.572000													39	563					3.21987e-24	5.63254e-24	0.014410	1	0
ASB2	51676	broad.mit.edu	37	14	94420762	94420762	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:94420762C>T	ENST00000555019.1	-	4	809	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	ASB2_ENST00000315988.4_Missense_Mutation_p.E79K|ASB2_ENST00000556337.1_Intron	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	79					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TTCTTCCCTTCCTTGATCATG	0.592000													6	48					0	0	0.001168	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751383	19751383	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr13:19751383G>T	ENST00000400113.3	-	4	844	c.740C>A	c.(739-741)gCc>gAc	p.A247D		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	247					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CACATTCAGGGCCCCGTCAAA	0.617000													9	104					3.86212e-05	4.64558e-05	0.008291	1	0
CREB5	9586	broad.mit.edu	37	7	28527851	28527851	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:28527851C>T	ENST00000357727.2	+	2	452	c.62C>T	c.(61-63)cCa>cTa	p.P21L	CREB5_ENST00000396299.2_Intron|CREB5_ENST00000396300.2_Missense_Mutation_p.P14L	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	21					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			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TGCAGTGCCCCAGGCTGCTCC	0.542000													5	219					0	0	0.001984	0	0
JAM2	58494	broad.mit.edu	37	21	27084669	27084669	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr21:27084669C>T	ENST00000480456.1	+	9	1389	c.839C>T	c.(838-840)tCt>tTt	p.S280F	JAM2_ENST00000477351.1_3'UTR|JAM2_ENST00000400532.1_Missense_Mutation_p.S280F|JAM2_ENST00000312957.5_Missense_Mutation_p.S280F|JAM2_ENST00000425221.2_Missense_Mutation_p.S244F	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	280					blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AATTCTTCATCTAAAGCCACG	0.303000													4	157					0	0	0.009096	0	0
ZNRF3	84133	broad.mit.edu	37	22	29439407	29439407	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr22:29439407C>T	ENST00000544604.2	+	4	797	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	ZNRF3_ENST00000402174.1_Missense_Mutation_p.R108C|ZNRF3_ENST00000406323.3_Missense_Mutation_p.R108C|ZNRF3_ENST00000332811.4_Missense_Mutation_p.R108C	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	208						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GATCCAGCACCGCCCTCCTCG	0.552000													4	74					0	0	0.009096	0	0
DSCAM	1826	broad.mit.edu	37	21	41427699	41427699	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr21:41427699G>T	ENST00000400454.1	-	29	5465	c.4988C>A	c.(4987-4989)cCc>cAc	p.P1663H		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1663					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGAGCCCTGGGTATGTCGAT	0.468000													11	354					1.49906e-05	1.86533e-05	0.002450	1	0
TTLL5	23093	broad.mit.edu	37	14	76245968	76245968	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:76245968C>T	ENST00000298832.9	+	24	2643	c.2438C>T	c.(2437-2439)tCt>tTt	p.S813F	TTLL5_ENST00000556893.1_Missense_Mutation_p.S364F|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.S322F|TTLL5_ENST00000557636.1_Missense_Mutation_p.S827F	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	813					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AAGAACAAGTCTGCTAGTGTC	0.398000													9	229					0	0	0.006214	0	0
PCCA	5095	broad.mit.edu	37	13	100807337	100807337	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr13:100807337G>C	ENST00000376285.1	+	5	443	c.405G>C	c.(403-405)agG>agC	p.R135S	PCCA_ENST00000376279.3_Missense_Mutation_p.R135S|PCCA_ENST00000376286.4_Missense_Mutation_p.R109S|PCCA_ENST00000485946.1_3'UTR	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	135	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AGAAAACCAGGGCCCAAGCTG	0.423000													10	70					0	0	0.008871	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733863	28733863	+	RNA	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:28733863C>T	ENST00000550043.1	+	0	268																											GTTCCAGCCTCGGTTTCTATT	0.532000													4	86					0	0	0.009096	0	0
STXBP5	134957	broad.mit.edu	37	6	147684840	147684840	+	Splice_Site	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:147684840G>T	ENST00000367481.3	+	22	2915	c.2807_splice	c.e22+1	p.S936_splice	STXBP5_ENST00000321680.6_Splice_Site_p.S972_splice|STXBP5_ENST00000179882.6_Splice_Site_p.S627_splice|STXBP5_ENST00000367480.3_Splice_Site_p.S919_splice	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	972					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ATGACTTTTAGGTAAGAGTTA	0.353000													23	104					8.24728e-16	1.376e-15	0.004656	1	0
ERBB4	2066	broad.mit.edu	37	2	212295768	212295768	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:212295768C>T	ENST00000342788.4	-	21	2855	c.2545G>A	c.(2545-2547)Gtc>Atc	p.V849I	ERBB4_ENST00000436443.1_Missense_Mutation_p.V849I|ERBB4_ENST00000402597.1_Missense_Mutation_p.V839I	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	849	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTCACTAAGACATTACGGGCT	0.413000										TSP Lung(8;0.080)			14	254					0	0	0.002450	0	0
ATP13A5	344905	broad.mit.edu	37	3	193028451	193028451	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:193028451A>G	ENST00000342358.4	-	21	2618	c.2501T>C	c.(2500-2502)cTt>cCt	p.L834P	ATP13A5_ENST00000495496.1_5'UTR|ATP13A5-AS1_ENST00000414634.1_RNA	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	834					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTCTTCAATAAGGCTTGATTT	0.368000													7	207					0	0	0.003080	0	0
SAMD9	54809	broad.mit.edu	37	7	92731594	92731594	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:92731594C>G	ENST00000379958.2	-	3	4086	c.3817G>C	c.(3817-3819)Gaa>Caa	p.E1273Q		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1273						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACAAAGTATTCATCAAAAAAA	0.303000													35	157					0	0	0.013726	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77043818	77043818	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:77043818T>A	ENST00000339142.2	+	5	1049	c.494T>A	c.(493-495)gTg>gAg	p.V165E	C1QTNF1_ENST00000580454.1_Missense_Mutation_p.V165E|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.V165E|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.V83E|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.V165E|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.V83E|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.V175E|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.V165E|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.V165E|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.V165E	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	165	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			TACCAGACGGTGATCTTCGAC	0.592000													20	231					0	0	0.014323	0	0
TENM2	57451	broad.mit.edu	37	5	167654902	167654902	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:167654902C>G	ENST00000519204.1	+	24	5042	c.4924C>G	c.(4924-4926)Caa>Gaa	p.Q1642E	TENM2_ENST00000403607.2_Missense_Mutation_p.Q1587E|TENM2_ENST00000545108.1_Missense_Mutation_p.Q1762E|TENM2_ENST00000518659.1_Missense_Mutation_p.Q1763E|TENM2_ENST00000520394.1_Missense_Mutation_p.Q1524E					teneurin transmembrane protein 2																		TTTTCCAGATCAAGTTCGGAA	0.438000													6	37					0	0	0.001984	0	0
KCNJ2	3759	broad.mit.edu	37	17	68172452	68172452	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:68172452G>T	ENST00000243457.3	+	2	1655	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D	KCNJ2_ENST00000535240.1_Missense_Mutation_p.E424D	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	424					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TACGGCGAGAGTCGGAGATAT	0.493000													5	149					4.096e-09	5.96684e-09	0.001168	1	0
LRRC73	221424	broad.mit.edu	37	6	43477372	43477372	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:43477372G>A	ENST00000372441.1	-	1	1052	c.152C>T	c.(151-153)gCc>gTc	p.A51V		NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN	leucine rich repeat containing 73	51																	CCCGGCCAGGGCCCGGCAGAT	0.711000													3	10					0	0	0.009096	0	0
TUBA3D	113457	broad.mit.edu	37	2	132237909	132237909	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:132237909C>G	ENST00000321253.6	+	4	750	c.643C>G	c.(643-645)Cgc>Ggc	p.R215G	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	215					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CATATGTCGGCGCAACCTGGA	0.552000													8	163					0	0	0.008291	0	0
DLG5	9231	broad.mit.edu	37	10	79581697	79581697	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:79581697T>G	ENST00000372391.2	-	15	2550	c.2545A>C	c.(2545-2547)Acg>Ccg	p.T849P	DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	849					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGCCTGTCCGTGTAGAAGATG	0.567000													21	76					0	0	0.012319	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911627	100911627	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:100911627C>A	ENST00000328766.5	-	5	1401	c.948G>T	c.(946-948)ggG>ggT	p.G316G	ARMCX2_ENST00000330154.2_Silent_p.G316G|ARMCX2_ENST00000356824.4_Silent_p.G316G	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	316						integral to membrane	binding	p.G316fs*3(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CTGCTGCAGCCCCATCTCCAG	0.592000													11	51					1.52009e-12	2.43639e-12	0.003163	1	0
LARS	51520	broad.mit.edu	37	5	145523892	145523892	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:145523892C>A	ENST00000394434.2	-	18	1842	c.1676G>T	c.(1675-1677)aGg>aTg	p.R559M	LARS_ENST00000274562.9_Missense_Mutation_p.R532M|LARS_ENST00000545646.1_Missense_Mutation_p.R513M|LARS_ENST00000510191.1_Missense_Mutation_p.R505M	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	559					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TTCAAAATTCCTCCTGGTCTC	0.358000													18	175					6.33239e-15	1.04274e-14	0.010504	1	0
TET1	80312	broad.mit.edu	37	10	70451365	70451365	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:70451365G>T	ENST00000373644.4	+	12	6414	c.6205G>T	c.(6205-6207)Gag>Tag	p.E2069*		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2069					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GATTAAGTTTGAGGCTAAAGA	0.413000													8	42					5.18039e-06	6.61561e-06	0.003080	1	0
PLAG1	5324	broad.mit.edu	37	8	57079580	57079580	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:57079580T>C	ENST00000316981.3	-	5	1204	c.725A>G	c.(724-726)aAg>aGg	p.K242R	PLAG1_ENST00000423799.2_Missense_Mutation_p.K160R|PLAG1_ENST00000429357.2_Missense_Mutation_p.K242R	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	242	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TGTTTTGACCTTCAGAAGCTC	0.458000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								20	336					0	0	0.012319	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289596	98289596	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:98289596C>T	ENST00000322128.3	-	1	580	c.477G>A	c.(475-477)ggG>ggA	p.G159G		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	159					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TGACCTGAGGCCCCCTCCCCG	0.642000													27	259					0	0	0.007291	0	0
LCE2D	353141	broad.mit.edu	37	1	152636873	152636873	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:152636873G>C	ENST00000368784.1	+	2	347	c.292G>C	c.(292-294)Ggg>Cgg	p.G98R		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	98	Cys-rich.				keratinization					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAACCTTCTGGGGCCTCTGG	0.637000													11	110					0	0	0.001855	0	0
KRT31	3881	broad.mit.edu	37	17	39553520	39553520	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:39553520C>T	ENST00000251645.2	-	1	324	c.272G>A	c.(271-273)cGg>cAg	p.R91Q		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	91	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CTGCTGAGACCGCTCCCGGAT	0.587000													4	72					0	0	0.000602	0	0
ATOH1	474	broad.mit.edu	37	4	94750618	94750618	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:94750618C>A	ENST00000306011.3	+	1	577	c.541C>A	c.(541-543)Cag>Aag	p.Q181K		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	181	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CGCCTTCGACCAGCTGCGCAA	0.567000													4	87					1.23904e-05	1.55095e-05	0.000602	1	0
STX3	6809	broad.mit.edu	37	11	59559643	59559643	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:59559643T>C	ENST00000535361.1	+	6	968	c.421T>C	c.(421-423)Ttc>Ctc	p.F141L	STX3_ENST00000529177.1_Missense_Mutation_p.F141L|STX3_ENST00000300150.7_Missense_Mutation_p.F110L|STX3_ENST00000437946.2_Missense_Mutation_p.F44L|STX3_ENST00000337979.4_Missense_Mutation_p.F141L			Q13277	STX3_HUMAN	syntaxin 3	141					cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						TCAAGTGGACTTCCGAGAACG	0.522000													10	112					0	0	0.008291	0	0
DBT	1629	broad.mit.edu	37	1	100715330	100715330	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:100715330T>A	ENST00000370132.3	-	1	60	c.47A>T	c.(46-48)aAg>aTg	p.K16M	DBT_ENST00000370131.3_Missense_Mutation_p.K16M	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	16					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		GCTTACCAGCTTCCCCGCATT	0.577000													14	173					0	0	0.004007	0	0
OTUD7A	161725	broad.mit.edu	37	15	31818568	31818568	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:31818568C>T	ENST00000382902.1	-	6	969	c.877G>A	c.(877-879)Ggc>Agc	p.G293S	OTUD7A_ENST00000307050.4_Missense_Mutation_p.G286S			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	286	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CCCGTGCCGCCATTCTTGCTG	0.667000													3	11					0	0	0.004672	0	0
ITPR2	3709	broad.mit.edu	37	12	26749952	26749952	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:26749952G>C	ENST00000381340.3	-	31	4534	c.4118C>G	c.(4117-4119)gCc>gGc	p.A1373G		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1373					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GATGTGGTAGGCTAAGGGGCC	0.478000													31	389					0	0	0.004289	0	0
FOXR1	283150	broad.mit.edu	37	11	118849710	118849710	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:118849710C>A	ENST00000317011.3	+	3	405	c.180C>A	c.(178-180)aaC>aaA	p.N60K		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	60					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TAAATCCCAACATTGTGTATC	0.557000													16	337					6.31663e-08	8.83488e-08	0.003163	1	0
DCUN1D3	123879	broad.mit.edu	37	16	20871399	20871399	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:20871399T>A	ENST00000324344.3	-	3	1009	c.724A>T	c.(724-726)Act>Tct	p.T242S	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Missense_Mutation_p.T242S	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	242	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		ATGTTCCAAGTGTCCCGGGAG	0.502000													32	170					0	0	0.009535	0	0
NCOA2	10499	broad.mit.edu	37	8	71087017	71087017	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:71087017C>A	ENST00000452400.2	-	5	518	c.337G>T	c.(337-339)Gat>Tat	p.D113Y		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	113					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CCCAGCGCATCCTTGTCGATG	0.408000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								15	275					1.02788e-11	1.6248e-11	0.004990	1	0
C1orf127	148345	broad.mit.edu	37	1	11008106	11008106	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:11008106C>T	ENST00000377004.4	-	12	2085	c.2086G>A	c.(2086-2088)Gca>Aca	p.A696T	C1orf127_ENST00000377008.4_Missense_Mutation_p.A529T	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	547										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		AGGGGCGCTGCCAGCCTCACC	0.622000													3	31					0	0	0.009096	0	0
RCBTB1	55213	broad.mit.edu	37	13	50129684	50129684	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr13:50129684C>A	ENST00000378302.2	-	6	830	c.570G>T	c.(568-570)caG>caT	p.Q190H	RCBTB1_ENST00000258646.3_Missense_Mutation_p.Q190H|RCBTB1_ENST00000546015.1_Missense_Mutation_p.Q190H	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	190					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TGGATGAAGTCTGACCACAGG	0.448000													12	87					0.00244969	0.00268108	0.002450	1	0
NEBL	10529	broad.mit.edu	37	10	21124440	21124440	+	Splice_Site	SNP	A	A	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:21124440A>C	ENST00000377122.4	-	14	1846		c.e14+1		NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette						regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CACCCTACTAACCTCACTCGC	0.428000													14	422					0	0	0.002450	0	0
ANO3	63982	broad.mit.edu	37	11	26655757	26655757	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:26655757C>A	ENST00000256737.3	+	19	2732	c.1880C>A	c.(1879-1881)cCt>cAt	p.P627H	ANO3_ENST00000531568.1_Missense_Mutation_p.P481H|ANO3_ENST00000537978.1_Missense_Mutation_p.P611H|ANO3_ENST00000525139.1_Missense_Mutation_p.P611H	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	627						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTAGAATATCCTCGAACAGAA	0.423000													6	97					0.00116845	0.00129793	0.001168	1	0
DOCK2	1794	broad.mit.edu	37	5	169097588	169097588	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:169097588G>T	ENST00000256935.8	+	4	291	c.211G>T	c.(211-213)Gtt>Ttt	p.V71F		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	71					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAGTGACAGTTGAGAAAAG	0.363000													10	240					2.10051e-16	3.52785e-16	0.013537	1	0
CDH4	1002	broad.mit.edu	37	20	60427939	60427939	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:60427939G>A	ENST00000360469.5	+	6	950	c.862G>A	c.(862-864)Gag>Aag	p.E288K	CDH4_ENST00000543233.1_Missense_Mutation_p.E214K	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	288	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CTCCGTGGACGAGGGCTCCAA	0.592000													4	154					0	0	0.000602	0	0
XYLT1	64131	broad.mit.edu	37	16	17292255	17292255	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:17292255T>C	ENST00000261381.6	-	5	1187	c.1103A>G	c.(1102-1104)cAt>cGt	p.H368R		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	368					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACTTGCCGATGCAGGTAATT	0.587000													13	62					0	0	0.002450	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19770595	19770595	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr21:19770595G>T	ENST00000284885.3	-	2	230	c.197C>A	c.(196-198)tCc>tAc	p.S66Y		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	66	SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGTAACTCCGGATGTTATTTT	0.373000													9	175					7.48243e-07	1.00109e-06	0.006214	1	0
PLXNA4	91584	broad.mit.edu	37	7	131848973	131848973	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:131848973G>T	ENST00000359827.3	-	24	5390	c.4428C>A	c.(4426-4428)gcC>gcA	p.A1476A	PLXNA4_ENST00000321063.4_Silent_p.A1476A			Q9HCM2	PLXA4_HUMAN	plexin A4	1476						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGCCCGTGATGGCGTCAATGG	0.592000													13	77					7.03913e-09	1.02071e-08	0.013537	1	0
PTPRB	5787	broad.mit.edu	37	12	71002981	71002981	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:71002981C>A	ENST00000334414.6	-	4	891	c.847G>T	c.(847-849)Gcc>Tcc	p.A283S	PTPRB_ENST00000261266.5_Missense_Mutation_p.A65S|PTPRB_ENST00000538708.1_Missense_Mutation_p.A65S|PTPRB_ENST00000551525.1_Missense_Mutation_p.A282S|PTPRB_ENST00000550857.1_Missense_Mutation_p.A65S|PTPRB_ENST00000451516.2_Missense_Mutation_p.A65S|PTPRB_ENST00000550358.1_Missense_Mutation_p.A283S|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	65	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CACAACGCGGCCCCCAGGGTG	0.488000													9	74					0.000274275	0.000316645	0.004482	1	0
ZNF366	167465	broad.mit.edu	37	5	71756328	71756328	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:71756328G>T	ENST00000318442.5	-	2	1486	c.996C>A	c.(994-996)agC>agA	p.S332R		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCTTCACCTCGCTGTGCTGCA	0.662000													3	24					0.004672	0.00503047	0.004672	1	0
DIP2C	22982	broad.mit.edu	37	10	387246	387246	+	Silent	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:387246G>C	ENST00000280886.6	-	29	3564	c.3477C>G	c.(3475-3477)gcC>gcG	p.A1159A		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1159						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AACGGCAGAAGGCACTGGTGG	0.552000													8	66					0	0	0.008291	0	0
ESRRG	2104	broad.mit.edu	37	1	216850597	216850597	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:216850597C>T	ENST00000391890.3	-	4	741	c.224G>A	c.(223-225)aGg>aAg	p.R75K	ESRRG_ENST00000366938.2_Missense_Mutation_p.R75K|ESRRG_ENST00000361525.3_Missense_Mutation_p.R75K|ESRRG_ENST00000366940.2_Missense_Mutation_p.R75K|ESRRG_ENST00000361395.2_Missense_Mutation_p.R75K|ESRRG_ENST00000359162.2_Missense_Mutation_p.R75K|ESRRG_ENST00000408911.3_Missense_Mutation_p.R98K|ESRRG_ENST00000360012.3_Missense_Mutation_p.R75K|ESRRG_ENST00000366937.1_Missense_Mutation_p.R103K|ESRRG_ENST00000463665.1_Missense_Mutation_p.R75K|ESRRG_ENST00000493603.1_Missense_Mutation_p.R75K|ESRRG_ENST00000487276.1_Missense_Mutation_p.R75K|ESRRG_ENST00000493748.1_Missense_Mutation_p.R75K	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	98					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ATACAGTTTCCTGACAGGCCC	0.507000													16	304					0	0	0.007413	0	0
BRD1	23774	broad.mit.edu	37	22	50192205	50192205	+	Splice_Site	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr22:50192205C>A	ENST00000216267.8	-	4	2272		c.e4+1		BRD1_ENST00000457780.2_Splice_Site|BRD1_ENST00000542442.1_Intron|BRD1_ENST00000404760.1_Splice_Site|BRD1_ENST00000404034.1_Splice_Site|BRD1_ENST00000342989.5_Splice_Site	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1						histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAAACACCCACCTCCTTCAGA	0.607000													5	53					0.000602214	0.000681538	0.000602	1	0
KCNH1	3756	broad.mit.edu	37	1	211280669	211280669	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:211280669A>G	ENST00000367007.4	-	2	299	c.130T>C	c.(130-132)Tac>Cac	p.Y44H	KCNH1_ENST00000271751.4_Missense_Mutation_p.Y44H	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	44	PAS.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.Y44H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCATTGCTGTACACAATAGGC	0.408000													16	178					0	0	0.007413	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44217442	44217442	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:44217442T>A	ENST00000371554.1	+	4	599	c.385T>A	c.(385-387)Ttt>Att	p.F129I	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.F129I|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.F129I			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	129					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GATTGGGCAGTTTGGTGTTGG	0.423000													16	521					0	0	0.004990	0	0
KSR2	283455	broad.mit.edu	37	12	117962723	117962723	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:117962723C>A	ENST00000425217.1	-	14	2120	c.2066G>T	c.(2065-2067)cGg>cTg	p.R689L	KSR2_ENST00000302438.5_Missense_Mutation_p.R415L|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.R718L	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	718	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTTCTCATGCCGTGTCTGCCT	0.597000													7	61					2.0095e-06	2.6219e-06	0.001984	1	0
EPHA8	2046	broad.mit.edu	37	1	22895780	22895780	+	Splice_Site	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:22895780A>T	ENST00000166244.3	+	2	166		c.e2-1		EPHA8_ENST00000374644.4_Splice_Site|EPHA8_ENST00000538803.1_Splice_Site	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8							integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTGTTTTACAGTGAATTTGC	0.602000													11	106					0	0	0.010729	0	0
THEMIS	387357	broad.mit.edu	37	6	128134051	128134051	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:128134051C>A	ENST00000368250.1	-	5	1996	c.1498G>T	c.(1498-1500)Gta>Tta	p.V500L	THEMIS_ENST00000543064.1_Missense_Mutation_p.V579L|THEMIS_ENST00000537166.1_Missense_Mutation_p.V544L|THEMIS_ENST00000368248.2_Missense_Mutation_p.V579L			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	579	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GGCAGGTCTACCGTCCTTTCT	0.478000													45	316					2.76378e-25	4.86164e-25	0.014410	1	0
ACTL6A	86	broad.mit.edu	37	3	179288028	179288028	+	Splice_Site	SNP	G	G	T	rs150747687		TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:179288028G>T	ENST00000429709.2	+	3	489	c.277_splice	c.e3+1	p.M92_splice	ACTL6A_ENST00000450518.2_Splice_Site_p.M50_splice|ACTL6A_ENST00000392662.1_Splice_Site_p.M50_splice	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	92				M -> T (in Ref. 4; CAB66543).	chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AAAATGGGATGGGTATGATGT	0.393000													6	153					8.12818e-05	9.6303e-05	0.001984	1	0
ETS1	2113	broad.mit.edu	37	11	128333509	128333509	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:128333509G>T	ENST00000392668.3	-	9	1205	c.1137C>A	c.(1135-1137)atC>atA	p.I379I	ETS1_ENST00000535549.1_Silent_p.I119I|ETS1_ENST00000345075.4_Silent_p.I248I|ETS1_ENST00000526145.1_Silent_p.I248I|ETS1_ENST00000319397.5_Silent_p.I335I|ETS1_ENST00000531611.1_Intron	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	335					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GCCATAGCTGGATTGGTCCAC	0.468000													11	190					1.58986e-06	2.08732e-06	0.008291	1	0
GSPT2	23708	broad.mit.edu	37	X	51488070	51488070	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:51488070C>G	ENST00000340438.4	+	1	1590	c.1348C>G	c.(1348-1350)Ctg>Gtg	p.L450V		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	450					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CCTGGGAAAGCTGGAATCCGG	0.418000													4	37					0	0	0.009096	0	0
RBM14	10432	broad.mit.edu	37	11	66392039	66392039	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:66392039C>T	ENST00000310137.4	+	2	831	c.692C>T	c.(691-693)aCg>aTg	p.T231M	RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000409372.1_3'UTR	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	231	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCTCCTCTGACGGCCCAGCCA	0.647000													4	39					0	0	0.000602	0	0
CDC25C	995	broad.mit.edu	37	5	137661711	137661711	+	Splice_Site	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:137661711G>A	ENST00000323760.6	-	5	646	c.369_splice	c.e5+1	p.P123_splice	CDC25C_ENST00000357274.3_Intron|CDC25C_ENST00000356505.3_Splice_Site_p.P123_splice|CDC25C_ENST00000348983.3_Intron|CDC25C_ENST00000514555.1_Splice_Site_p.P123_splice|CDC25C_ENST00000513970.1_Splice_Site_p.P123_splice|CDC25C_ENST00000415130.2_Intron	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	123					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCTACTCACTGGGCTACATTT	0.448000													12	128					0	0	0.003163	0	0
AGMO	392636	broad.mit.edu	37	7	15470631	15470631	+	Splice_Site	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:15470631C>A	ENST00000342526.3	-	4	681	c.513_splice	c.e4+1	p.W171_splice		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	171					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ACAACTTACCCAGGAAGTATA	0.338000													20	227					5.03518e-11	7.75541e-11	0.007413	1	0
ZC4H2	55906	broad.mit.edu	37	X	64140031	64140031	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:64140031C>A	ENST00000545618.1	-	4	876	c.313G>T	c.(313-315)Gcc>Tcc	p.A105S	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Missense_Mutation_p.A87S|ZC4H2_ENST00000374839.3_Missense_Mutation_p.A110S|ZC4H2_ENST00000447788.2_Missense_Mutation_p.A110S			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	110							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ATGCGCAGGGCATCCACATGT	0.493000													15	134					6.31663e-08	8.83488e-08	0.003163	1	0
GABRA4	2557	broad.mit.edu	37	4	46930701	46930701	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:46930701G>T	ENST00000264318.3	-	9	2188	c.1206C>A	c.(1204-1206)aaC>aaA	p.N402K		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	402					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCTCAGTTCTGTTGCCAACAT	0.378000													10	145					1.33987e-11	2.11005e-11	0.008291	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76501257	76501257	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:76501257G>C	ENST00000307431.8	+	11	1874	c.1489G>C	c.(1489-1491)Gac>Cac	p.D497H	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.D425H|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.D449H|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.D501H	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	498	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGGTTGTCCTGACAAAAGCTT	0.363000													6	53					0	0	0.003080	0	0
SRSF6	6431	broad.mit.edu	37	20	42089580	42089580	+	Silent	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:42089580G>C	ENST00000244020.3	+	6	1018	c.912G>C	c.(910-912)ccG>ccC	p.P304P		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	304	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CCAATTCGCCGCTACCTGTTC	0.493000													9	109					0	0	0.008291	0	0
KCNN3	3782	broad.mit.edu	37	1	154744658	154744658	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:154744658C>A	ENST00000271915.3	-	3	1556	c.1241G>T	c.(1240-1242)cGc>cTc	p.R414L	KCNN3_ENST00000358505.2_Missense_Mutation_p.R101L|KCNN3_ENST00000361147.4_Missense_Mutation_p.R109L	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	419						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CAGGTACAGGCGCAGGAACAT	0.597000													17	55					1.67942e-08	2.40488e-08	0.006122	1	0
ADAM19	8728	broad.mit.edu	37	5	156957829	156957829	+	Silent	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:156957829A>G	ENST00000257527.4	-	5	471	c.393T>C	c.(391-393)acT>acC	p.T131T	ADAM19_ENST00000517905.1_Silent_p.T131T|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Silent_p.T133T	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	131					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCCTCGGCAAGTGCTGAGCG	0.552000													6	94					0	0	0.003080	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509297	110509297	+	Splice_Site	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:110509297G>T	ENST00000378402.5	+	64	10580		c.e64+1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTATTTTCAGGTAATTATGAT	0.338000										HNSCC(38;0.096)			9	258					7.48243e-07	1.00109e-06	0.006214	1	0
OSBP	5007	broad.mit.edu	37	11	59377981	59377981	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:59377981G>C	ENST00000263847.1	-	2	923	c.444C>G	c.(442-444)aaC>aaG	p.N148K		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	148	PH.				lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AAATGATGAAGTTGCAGGAGT	0.527000													9	127					0	0	0.006214	0	0
C1orf173	127254	broad.mit.edu	37	1	75072442	75072442	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:75072442C>T	ENST00000326665.5	-	10	1550	c.1332G>A	c.(1330-1332)gaG>gaA	p.E444E	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.E247E	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	444	Glu-rich.									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						TCTCCTTGATCTCATTTCTTT	0.403000													15	434					0	0	0.004007	0	0
ARSF	416	broad.mit.edu	37	X	3002385	3002385	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:3002385G>C	ENST00000381127.1	+	6	729	c.508G>C	c.(508-510)Gtt>Ctt	p.V170L	ARSF_ENST00000537104.1_Missense_Mutation_p.V170L|ARSF_ENST00000359361.2_Missense_Mutation_p.V170L	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	170						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				GTTCACTCTCGTTGACAGCTG	0.527000													12	20					0	0	0.001855	0	0
ZNF578	147660	broad.mit.edu	37	19	53014541	53014541	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:53014541A>T	ENST00000421239.2	+	6	1151	c.907A>T	c.(907-909)Aca>Tca	p.T303S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GTCATCCCTGACATGCCATCG	0.433000													36	117					0	0	0.004289	0	0
CDH23	64072	broad.mit.edu	37	10	73544081	73544081	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:73544081G>T	ENST00000224721.6	+	41	5426	c.5421G>T	c.(5419-5421)agG>agT	p.R1807S		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1802	Cadherin 17.		V -> M.		calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGGTGCTAAGGGTCCGGAAGG	0.622000													19	122					1.01871e-10	1.55016e-10	0.008871	1	0
MMP10	4319	broad.mit.edu	37	11	102649400	102649400	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:102649400C>A	ENST00000279441.4	-	4	613	c.577G>T	c.(577-579)Gat>Tat	p.D193Y		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	193					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		AAGTGAATATCTCCATAAAGC	0.433000													8	215					1.76689e-08	2.51872e-08	0.006214	1	0
PIKFYVE	200576	broad.mit.edu	37	2	209188964	209188964	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:209188964G>T	ENST00000264380.4	+	18	2447	c.2289G>T	c.(2287-2289)atG>atT	p.M763I		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	763					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CCCAGGACATGTTATTGGAAC	0.338000													5	165					3.59834e-05	4.34899e-05	0.001168	1	0
TAS2R14	50840	broad.mit.edu	37	12	11091043	11091043	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:11091043T>A	ENST00000537503.1	-	1	819	c.764A>T	c.(763-765)gAa>gTa	p.E255V	TAS2R14_ENST00000381852.4_5'UTR|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	255					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CTCCAACCTTTCAGAGGTCCA	0.413000													23	153					0	0	0.014323	0	0
PSD	5662	broad.mit.edu	37	10	104176415	104176415	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:104176415C>A	ENST00000020673.5	-	2	907	c.381G>T	c.(379-381)tgG>tgT	p.W127C	PSD_ENST00000406432.1_Missense_Mutation_p.W127C	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	127	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CACCCAGATCCCAGCTCCGAC	0.642000													9	32					0.00448238	0.00485111	0.004482	1	0
FNIP1	96459	broad.mit.edu	37	5	131013396	131013396	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:131013396C>A	ENST00000511848.1	-	13	1613	c.1519G>T	c.(1519-1521)Ggt>Tgt	p.G507C	FNIP1_ENST00000510461.1_Splice_Site_p.G507_splice|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Splice_Site_p.G462_splice|FNIP1_ENST00000307968.7_Splice_Site_p.G479_splice					folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GATTACATACCCAGTTGTGCC	0.328000													4	225					0.00198382	0.00217308	0.001984	1	0
NLRP14	338323	broad.mit.edu	37	11	7079645	7079645	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:7079645C>A	ENST00000299481.4	+	8	2943	c.2597C>A	c.(2596-2598)gCc>gAc	p.A866D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	866					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.A866V(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATGAGTGATGCCCTGCAACAT	0.363000													24	285					1.26454e-06	1.67237e-06	0.005443	1	0
SYT7	9066	broad.mit.edu	37	11	61318856	61318856	+	Splice_Site	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:61318856T>C	ENST00000263846.4	-	3	542	c.215_splice	c.e3+1	p.K72_splice	SYT7_ENST00000542836.1_Splice_Site_p.N72_splice|SYT7_ENST00000542670.1_Splice_Site_p.N72_splice|SYT7_ENST00000540677.1_Splice_Site_p.N72_splice|SYT7_ENST00000539008.1_Splice_Site_p.N72_splice|SYT7_ENST00000535826.1_Splice_Site_p.N72_splice	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	72						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGGCACCTACTTGATAGCCTT	0.592000													19	354					0	0	0.008871	0	0
FAM151A	338094	broad.mit.edu	37	1	55078324	55078324	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:55078324G>A	ENST00000302250.2	-	5	795	c.635C>T	c.(634-636)aCc>aTc	p.T212I	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Missense_Mutation_p.T212I	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	212						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CATGTAGAAGGTGGTCCAGCC	0.572000													4	120					0	0	0.000602	0	0
FAM153A	285596	broad.mit.edu	37	5	177158587	177158587	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:177158587G>T	ENST00000440605.3	-	15	897	c.614C>A	c.(613-615)cCa>cAa	p.P205Q	FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000513554.1_Missense_Mutation_p.P73Q|FAM153A_ENST00000510276.1_Missense_Mutation_p.P205Q	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A	205										kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCGTGGCTGGGTCCACCTG	0.458000													12	42					4.93089e-13	7.95366e-13	0.002450	1	0
MAGI2	9863	broad.mit.edu	37	7	77756606	77756606	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:77756606G>T	ENST00000354212.4	-	19	3584	c.3331C>A	c.(3331-3333)Ccc>Acc	p.P1111T	MAGI2_ENST00000419488.1_Missense_Mutation_p.P1097T|MAGI2_ENST00000522391.1_Missense_Mutation_p.P1111T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1111	Pro-rich.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TAGTCCAAGGGTGGGGGCTGC	0.612000													12	375					2.31682e-05	2.84645e-05	0.003163	1	0
PRDM16	63976	broad.mit.edu	37	1	3342312	3342312	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:3342312C>T	ENST00000378398.3	+	14	3189	c.3107C>T	c.(3106-3108)cCa>cTa	p.P1036L	PRDM16_ENST00000442529.2_Missense_Mutation_p.P1035L|PRDM16_ENST00000378391.2_Missense_Mutation_p.P1036L|PRDM16_ENST00000270722.5_Missense_Mutation_p.P1036L|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000441472.2_Missense_Mutation_p.P1035L|PRDM16_ENST00000514189.1_Missense_Mutation_p.P1036L|PRDM16_ENST00000511072.1_Missense_Mutation_p.P1037L			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1036	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GAGAACGCACCAGGTGGGCCA	0.682000			T	EVI1	"""MDS, AML"""								6	47					0	0	0.001984	0	0
KCNMB1	3779	broad.mit.edu	37	5	169810693	169810693	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:169810693T>C	ENST00000274629.4	-	3	738	c.296A>G	c.(295-297)cAg>cGg	p.Q99R	KCNIP1_ENST00000518527.1_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.Q99R|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	99					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		CTGCTGGTTCTGGTCCCGAGT	0.597000													10	122					0	0	0.006214	0	0
PEG3	5178	broad.mit.edu	37	19	57334137	57334137	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:57334137G>T	ENST00000326441.9	-	6	912	c.549C>A	c.(547-549)acC>acA	p.T183T	PEG3_ENST00000598410.1_Silent_p.T58T|PEG3_ENST00000423103.2_Silent_p.T183T|ZIM2_ENST00000601070.1_Silent_p.T58T|PEG3_ENST00000593695.1_Silent_p.T57T|ZIM2_ENST00000593711.1_Silent_p.T58T|ZIM2_ENST00000391708.3_Silent_p.T58T|ZIM2_ENST00000221722.5_Silent_p.T58T|ZIM2_ENST00000593931.1_Silent_p.T58T|ZIM2_ENST00000599935.1_Silent_p.T58T	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	183					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTGGGTTCCTGGTGTGGGACC	0.552000													5	35					5.18039e-06	6.61561e-06	0.003080	1	0
SRGAP3	9901	broad.mit.edu	37	3	9079757	9079757	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:9079757C>A	ENST00000383836.3	-	11	1853	c.1426G>T	c.(1426-1428)Ggc>Tgc	p.G476C	SRGAP3_ENST00000360413.3_Missense_Mutation_p.G476C|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	476					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTGGTGGTGCCGCATTCTGCT	0.453000			T	RAF1	pilocytic astrocytoma								27	267					4.4194e-11	6.84033e-11	0.013726	1	0
WBP5	51186	broad.mit.edu	37	X	102612793	102612793	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:102612793C>A	ENST00000372661.3	+	3	492	c.181C>A	c.(181-183)Cac>Aac	p.H61N	WBP5_ENST00000372656.3_Missense_Mutation_p.H61N	NM_001006612.1|NM_016303.2	NP_001006613.1|NP_057387.1	Q9UHQ7	WPB5_HUMAN	WW domain binding protein 5	61	Glu-rich.									breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1)	8						AGAAGATATACACAACAGGCA	0.393000													19	205					1.96292e-10	2.95491e-10	0.010504	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140347030	140347030	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:140347030C>T	ENST00000289269.5	+	1	1211	c.679C>T	c.(679-681)Ctc>Ttc	p.L227F	PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		227	Cadherin 2.				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)			CCACCTGGTTCTCACAGCCGT	0.607000													5	58					0	0	0.001168	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370205	35370205	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:35370205C>A	ENST00000373347.1	-	3	1048	c.780G>T	c.(778-780)tgG>tgT	p.W260C	DLGAP3_ENST00000235180.4_Missense_Mutation_p.W260C			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	260					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CGGAACTCCACCAGCCTGTGG	0.652000													19	385					2.2171e-23	3.86234e-23	0.009535	1	0
LILRA1	11024	broad.mit.edu	37	19	55106221	55106221	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:55106221G>T	ENST00000453777.1	+	4	332	c.162G>T	c.(160-162)gaG>gaT	p.E54D	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.E54D	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	54	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGATCCTGGAGACCCAGGAGT	0.582000													16	69					1.15088e-07	1.59207e-07	0.004007	1	0
SNAP91	9892	broad.mit.edu	37	6	84311032	84311032	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:84311032T>A	ENST00000428679.2	-	16	1875	c.1282A>T	c.(1282-1284)Aca>Tca	p.T428S	SNAP91_ENST00000521485.1_Missense_Mutation_p.T428S|SNAP91_ENST00000195649.6_Missense_Mutation_p.T428S|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.T428S|SNAP91_ENST00000521743.1_Missense_Mutation_p.T428S|SNAP91_ENST00000520302.1_Missense_Mutation_p.T426S|SNAP91_ENST00000439399.2_Missense_Mutation_p.T428S			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	428	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GTAACAGTTGTAGTAGTGGAG	0.448000													4	46					0	0	0.000602	0	0
IGLV1-50	28821	broad.mit.edu	37	22	22682035	22682035	+	RNA	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr22:22682035A>T	ENST00000390291.2	+	0	268																											CTATGGTAACAGCAATCGGCC	0.572000													20	240					0	0	0.010504	0	0
FREM1	158326	broad.mit.edu	37	9	14748557	14748557	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr9:14748557C>T	ENST00000380881.4	-	32	6456	c.5641G>A	c.(5641-5643)Ggg>Agg	p.G1881R	FREM1_ENST00000422223.2_Missense_Mutation_p.G1880R|FREM1_ENST00000380894.1_Missense_Mutation_p.G416R|FREM1_ENST00000380880.3_Missense_Mutation_p.G1880R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1880					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAGGAAGACCCTGGGGGCAGC	0.542000													21	520					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179414361	179414361	+	Silent	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:179414361T>A	ENST00000589042.1	-	338	92312	c.92088A>T	c.(92086-92088)gcA>gcT	p.A30696A	TTN_ENST00000591111.1_Silent_p.A29055A|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.A21756A|TTN_ENST00000460472.2_Silent_p.A21631A|TTN-AS1_ENST00000592750.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342175.6_Silent_p.A21823A|TTN_ENST00000342992.6_Silent_p.A28128A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29055	Ig-like 138.						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)			ACTTGTTAACTGCAGAAACAC	0.403000													26	132					0	0	0.008361	0	0
CCDC141	285025	broad.mit.edu	37	2	179732896	179732896	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:179732896C>T	ENST00000420890.2	-	16	2548	c.2431G>A	c.(2431-2433)Gta>Ata	p.V811I	CCDC141_ENST00000295723.5_Missense_Mutation_p.V236I	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	236							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)			GGCTGCTCTACAAACTCCAGC	0.458000													13	109					0	0	0.004007	0	0
ATP10D	57205	broad.mit.edu	37	4	47574221	47574221	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:47574221G>T	ENST00000273859.3	+	17	3483	c.3214G>T	c.(3214-3216)Ggg>Tgg	p.G1072W		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1072					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CATTGGGATAGGGGTCTCAGG	0.468000													19	283					9.95505e-16	1.65874e-15	0.014323	1	0
ADGRG1	9289	broad.mit.edu	37	16	57685350	57685350	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:57685350A>T	ENST00000562631.1	+	3	835	c.303A>T	c.(301-303)ttA>ttT	p.L101F	GPR56_ENST00000540164.2_Missense_Mutation_p.L101F|GPR56_ENST00000567835.1_Missense_Mutation_p.L101F|GPR56_ENST00000544297.1_5'UTR|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000388812.4_Missense_Mutation_p.L101F|GPR56_ENST00000388813.5_Missense_Mutation_p.L101F|GPR56_ENST00000568908.1_Missense_Mutation_p.L101F|GPR56_ENST00000538815.1_Missense_Mutation_p.L101F|GPR56_ENST00000456916.1_Missense_Mutation_p.L101F|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000379696.3_Missense_Mutation_p.L101F|GPR56_ENST00000562558.1_Missense_Mutation_p.L101F|GPR56_ENST00000568909.1_Missense_Mutation_p.L101F			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	101					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CTGGGAGATTACATCTTCTCT	0.602000													10	64					0	0	0.010729	0	0
SFTPD	6441	broad.mit.edu	37	10	81697913	81697913	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:81697913T>C	ENST00000372292.3	-	8	863	c.823A>G	c.(823-825)Acg>Gcg	p.T275A		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	275	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TGTGCCTCCGTAAATGGTTTT	0.527000													5	73					0	0	0.003080	0	0
CCDC63	160762	broad.mit.edu	37	12	111345221	111345221	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:111345221G>A	ENST00000308208.5	+	12	1875	c.1633G>A	c.(1633-1635)Gga>Aga	p.G545R	CCDC63_ENST00000552694.1_Missense_Mutation_p.G466R|CCDC63_ENST00000545036.1_Missense_Mutation_p.G505R	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	545								p.G545R(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GGAAGTGCGCGGAGACAGCCT	0.522000													5	83					0	0	0.000602	0	0
CSMD3	114788	broad.mit.edu	37	8	113246670	113246670	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:113246670C>A	ENST00000297405.5	-	68	10908	c.10664G>T	c.(10663-10665)cGc>cTc	p.R3555L	CSMD3_ENST00000343508.3_Missense_Mutation_p.R3515L|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3386L|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3485L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3555						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						AAGATATATGCGTAACATTAG	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	445					3.52763e-06	4.55562e-06	0.004990	1	0
OR52E4	390081	broad.mit.edu	37	11	5906066	5906066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:5906066G>T	ENST00000316987.2	+	1	566	c.544G>T	c.(544-546)Gag>Tag	p.E182*		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACATACTGTGAGCACAGGGG	0.433000													14	302					2.94398e-08	4.17781e-08	0.007413	1	0
CTNND2	1501	broad.mit.edu	37	5	11384837	11384837	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:11384837T>A	ENST00000304623.8	-	7	1306	c.1117A>T	c.(1117-1119)Agc>Tgc	p.S373C	CTNND2_ENST00000359640.2_Missense_Mutation_p.S373C|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000511377.1_Missense_Mutation_p.S282C	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	373					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GAGTGCTTGCTGTACTGCTCG	0.682000													4	30					0	0	0.009096	0	0
EPDR1	54749	broad.mit.edu	37	7	37988507	37988507	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:37988507A>T	ENST00000199448.4	+	2	714	c.335A>T	c.(334-336)cAg>cTg	p.Q112L	EPDR1_ENST00000559325.1_Missense_Mutation_p.Q232L|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000476620.1_Missense_Mutation_p.Q10L|EPDR1_ENST00000425345.1_Missense_Mutation_p.Q51L	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	112					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GCCACCAAGCAGTGCTCAAAG	0.458000													15	371					0	0	0.004007	0	0
SATB1	6304	broad.mit.edu	37	3	18436362	18436362	+	Silent	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:18436362A>G	ENST00000338745.6	-	7	2532	c.798T>C	c.(796-798)caT>caC	p.H266H	SATB1_ENST00000454909.2_Silent_p.H266H|SATB1_ENST00000417717.2_Silent_p.H266H|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	266	Nuclear matrix targeting sequence (NMTS).				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CAAAATTGACATGATTGGCGC	0.512000													3	69					0	0	0.004672	0	0
LIG1	3978	broad.mit.edu	37	19	48624486	48624486	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:48624486C>A	ENST00000263274.7	-	24	2745	c.2326G>T	c.(2326-2328)Ggg>Tgg	p.G776W	LIG1_ENST00000427526.2_Missense_Mutation_p.G745W|LIG1_ENST00000536218.1_Missense_Mutation_p.G708W|CTC-453G23.5_ENST00000596839.1_RNA|CTC-453G23.5_ENST00000596563.1_RNA	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	776					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	AGGAAGCCCCCGTACCGGCCG	0.657000								Nucleotide excision repair (NER)					6	100					3.59834e-05	4.34899e-05	0.001168	1	0
ANGPT2	285	broad.mit.edu	37	8	6371302	6371302	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:6371302G>T	ENST00000325203.5	-	7	1570	c.1096C>A	c.(1096-1098)Cag>Aag	p.Q366K	ANGPT2_ENST00000523120.1_Missense_Mutation_p.Q365K|ANGPT2_ENST00000415216.1_Missense_Mutation_p.Q365K|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Missense_Mutation_p.Q314K			O15123	ANGP2_HUMAN	angiopoietin 2	366	Fibrinogen C-terminal.				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TAGCGTTGCTGATTAGTCAGT	0.363000													8	81					5.18039e-06	6.61561e-06	0.003080	1	0
OR5M9	390162	broad.mit.edu	37	11	56230837	56230837	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:56230837C>A	ENST00000279791.1	-	1	40	c.41G>T	c.(40-42)gGg>gTg	p.G14V		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ACAGGTCAGCCCCAGGAGAGT	0.413000													7	37					7.48243e-07	1.00109e-06	0.006214	1	0
CLVS2	134829	broad.mit.edu	37	6	123377050	123377050	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:123377050G>T	ENST00000275162.4	+	5	2110	c.775G>T	c.(775-777)Ggg>Tgg	p.G259W	CLVS2_ENST00000368438.1_Missense_Mutation_p.G113W	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	259					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TTATGACATGGGGACATGGGC	0.458000													59	534					1.69475e-38	3.02327e-38	0.014410	1	0
SMURF1	57154	broad.mit.edu	37	7	98634711	98634711	+	Silent	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:98634711A>G	ENST00000361125.1	-	16	2185	c.1866T>C	c.(1864-1866)ccT>ccC	p.P622P	AC004893.11_ENST00000468960.2_RNA|SMURF1_ENST00000361368.2_Silent_p.P596P	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	622	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	p.P622P(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TCTGGTCAAAAGGCTTCAGCA	0.532000											OREG0018188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	185					0	0	0.004672	0	0
LVRN	206338	broad.mit.edu	37	5	115298837	115298837	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:115298837C>G	ENST00000357872.4	+	1	647	c.523C>G	c.(523-525)Ccc>Gcc	p.P175A	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		175					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GGGCCGCGTGCCCGTGGACGA	0.647000													3	54					0	0	0.009096	0	0
NELFB	25920	broad.mit.edu	37	9	140150783	140150783	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr9:140150783A>G	ENST00000343053.4	+	3	606	c.269A>G	c.(268-270)tAc>tGc	p.Y90C		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		TGTTCCAGGTACAAGAAGCTG	0.547000													5	34					0	0	0.000602	0	0
CCDC112	153733	broad.mit.edu	37	5	114607061	114607061	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:114607061T>A	ENST00000379611.5	-	7	1468	c.1181A>T	c.(1180-1182)cAg>cTg	p.Q394L	CCDC112_ENST00000395557.4_Missense_Mutation_p.Q311L|CCDC112_ENST00000512261.1_Missense_Mutation_p.Q311L|CCDC112_ENST00000506442.1_Missense_Mutation_p.Q311L	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	311										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TAACTTAAACTGGCGCTGGCG	0.353000													15	238					0	0	0.006122	0	0
ZNF780B	163131	broad.mit.edu	37	19	40540268	40540268	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:40540268C>A	ENST00000434248.1	-	5	2563	c.2498G>T	c.(2497-2499)gGg>gTg	p.G833V	ZNF780B_ENST00000221355.6_Missense_Mutation_p.G685V	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	833					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGGTTTTCACCCAAGTATGAA	0.363000													3	55					0.004672	0.00503047	0.004672	1	0
NLRP7	199713	broad.mit.edu	37	19	55451425	55451425	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:55451425G>T	ENST00000446217.1	-	6	1248	c.846C>A	c.(844-846)ggC>ggA	p.G282G	NLRP7_ENST00000592784.1_Silent_p.G254G|NLRP7_ENST00000588756.1_Silent_p.G254G|NLRP7_ENST00000448121.2_Silent_p.G254G|NLRP7_ENST00000340844.2_Silent_p.G254G|NLRP7_ENST00000328092.5_Silent_p.G254G|NLRP7_ENST00000590030.1_Silent_p.G254G			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	254	NACHT.						ATP binding			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)		GCTCATCAAGGCCATCGACCA	0.562000													22	104					8.04996e-18	1.37023e-17	0.012319	1	0
FAT4	79633	broad.mit.edu	37	4	126373264	126373264	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:126373264G>A	ENST00000394329.3	+	9	11106	c.11093G>A	c.(11092-11094)cGa>cAa	p.R3698Q	FAT4_ENST00000335110.5_Missense_Mutation_p.R1996Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3698					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCAACATCCGAGTTTTCTTT	0.463000													7	166					0	0	0.003080	0	0
RNASE10	338879	broad.mit.edu	37	14	20978831	20978831	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:20978831G>T	ENST00000430083.1	+	2	689	c.285G>T	c.(283-285)acG>acT	p.T95T	RNASE10_ENST00000328444.5_Silent_p.T67T			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	67						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.T67T(1)		endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CCACAGAAACGCTGGTGCTTA	0.537000													8	100					1.06961e-07	1.48944e-07	0.003080	1	0
ATP1A2	477	broad.mit.edu	37	1	160105772	160105772	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:160105772G>C	ENST00000361216.3	+	17	2517	c.2428G>C	c.(2428-2430)Ggc>Cgc	p.G810R	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.G810R	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	810					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CATTGACCTGGGCACAGATAT	0.602000													5	149					0	0	0.001984	0	0
FBN2	2201	broad.mit.edu	37	5	127671773	127671773	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:127671773A>C	ENST00000508053.1	-	34	4605	c.3631T>G	c.(3631-3633)Tgc>Ggc	p.C1211G	FBN2_ENST00000262464.4_Missense_Mutation_p.C1211G|FBN2_ENST00000507835.1_Missense_Mutation_p.C61G|FBN2_ENST00000508989.1_Missense_Mutation_p.C1178G			P35556	FBN2_HUMAN	fibrillin 2	1211	EGF-like 18; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCATTTCTGCAGAGATTGTCA	0.433000													8	176					0	0	0.003080	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773618	35773618	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:35773618G>A	ENST00000360215.1	+	1	548	c.171G>A	c.(169-171)ccG>ccA	p.P57P	LHFPL5_ENST00000373853.1_Silent_p.P57P	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	57						integral to membrane		p.P57P(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCAACACACCGCAGGCAGGCT	0.612000													25	119					0	0	0.010818	0	0
ROBO3	64221	broad.mit.edu	37	11	124747551	124747551	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:124747551A>G	ENST00000397801.1	+	20	3175	c.2983A>G	c.(2983-2985)Aac>Gac	p.N995D	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.N973D	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	995					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CAGATATTACAACGGTGAGGA	0.627000													4	42					0	0	0.001168	0	0
C1orf21	81563	broad.mit.edu	37	1	184567578	184567578	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:184567578G>A	ENST00000235307.6	+	5	745	c.310G>A	c.(310-312)Gat>Aat	p.D104N	C1orf21_ENST00000367514.3_3'UTR	NM_030806.3	NP_110433.1	Q9H246	CA021_HUMAN	chromosome 1 open reading frame 21	104										breast(1)|lung(1)	2		Breast(1374;0.00262)		Colorectal(1306;4.8e-08)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)		CAGAATGCTGGATGAAAAAAT	0.358000													7	49					0	0	0.004482	0	0
CD1A	909	broad.mit.edu	37	1	158225111	158225111	+	Missense_Mutation	SNP	G	G	T	rs139349958		TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:158225111G>T	ENST00000289429.5	+	2	829	c.296G>T	c.(295-297)cGt>cTt	p.R99L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	99					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GAGGGAATTCGTAGATACGCC	0.468000													6	215					0.00198382	0.00217308	0.001984	1	0
IRX2	153572	broad.mit.edu	37	5	2748643	2748643	+	Silent	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:2748643T>A	ENST00000382611.6	-	3	1427	c.1179A>T	c.(1177-1179)acA>acT	p.T393T	IRX2_ENST00000302057.5_Silent_p.T393T	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	393						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TCCCGTAGTTTGTGTAGTTGC	0.706000													18	48					0	0	0.012319	0	0
RFX3	5991	broad.mit.edu	37	9	3248068	3248068	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr9:3248068C>T	ENST00000382004.3	-	16	2243	c.1932G>A	c.(1930-1932)caG>caA	p.Q644Q	RFX3_ENST00000358730.2_Silent_p.Q644Q|RFX3_ENST00000302303.1_Silent_p.Q644Q	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	644					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CTCCTGTTGCCTGAGCAACAC	0.453000													10	225					0	0	0.008291	0	0
ZNF99	7652	broad.mit.edu	37	19	22941730	22941730	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:22941730G>T	ENST00000397104.3	-	5	707	c.708C>A	c.(706-708)gcC>gcA	p.A236A	ZNF99_ENST00000596209.1_Silent_p.A327A					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTTTTCTAAGGGCTGAGAAAT	0.383000													16	88					9.16793e-09	1.3188e-08	0.004990	1	0
IRF9	10379	broad.mit.edu	37	14	24621044	24621044	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:24621044G>T	ENST00000558468.1	+	3	398	c.398G>T	c.(397-399)cGg>cTg	p.R133L	RNF31_ENST00000382687.3_Missense_Mutation_p.R507L|RNF31_ENST00000559275.1_Missense_Mutation_p.R507L|RNF31_ENST00000324103.6_Missense_Mutation_p.R658L																							AGCTGGGGCCGGGCAGAGCTG	0.617000													6	119					1.08611e-07	1.50577e-07	0.010729	1	0
CSF1R	1436	broad.mit.edu	37	5	149449436	149449436	+	Splice_Site	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:149449436C>A	ENST00000286301.3	-	10	1801	c.1510_splice	c.e10+1	p.G504_splice		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	504					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TCCCTCTCACCTGCAGAGATG	0.682000													4	53					3.59834e-05	4.34899e-05	0.001168	1	0
BMP7	655	broad.mit.edu	37	20	55746101	55746101	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:55746101T>A	ENST00000395863.3	-	7	1715	c.1210A>T	c.(1210-1212)Atc>Ttc	p.I404F	BMP7_ENST00000395864.3_Missense_Mutation_p.I338F|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	404					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			AGGACGGAGATGGCATTGAGC	0.552000													9	108					0	0	0.010729	0	0
ZNF572	137209	broad.mit.edu	37	8	125988733	125988733	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:125988733T>G	ENST00000319286.5	+	3	377	c.223T>G	c.(223-225)Tgg>Ggg	p.W75G		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GCCACTGACATGGGTTCAAGA	0.378000										HNSCC(60;0.17)			9	284					0	0	0.008291	0	0
XIRP2	129446	broad.mit.edu	37	2	168108080	168108080	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:168108080A>G	ENST00000409195.1	+	9	10267	c.10178A>G	c.(10177-10179)cAt>cGt	p.H3393R	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H3393R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H3171R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3218					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTTGCAAACATCCTAGAGAA	0.393000													16	438					0	0	0.010504	0	0
FLG	2312	broad.mit.edu	37	1	152281632	152281632	+	Silent	SNP	T	T	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:152281632T>G	ENST00000368799.1	-	3	5765	c.5730A>C	c.(5728-5730)acA>acC	p.T1910T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1910	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTTCCTGCTTGTCCTGGGCC	0.587000									Ichthyosis				7	244					0	0	0.004482	0	0
RHAG	6005	broad.mit.edu	37	6	49604438	49604438	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:49604438G>A	ENST00000371175.4	-	1	114	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	RHAG_ENST00000229810.7_Nonsense_Mutation_p.Q30*	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	30					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AGAACAGTCTGGTCCGTTTCA	0.403000													44	244					0	0	0.009718	0	0
CXCL6	6372	broad.mit.edu	37	4	74702983	74702983	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:74702983C>A	ENST00000226317.5	+	3	560	c.306C>A	c.(304-306)gtC>gtA	p.V102V	CXCL6_ENST00000503446.1_3'UTR|CXCL6_ENST00000515050.1_Silent_p.V102V	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	102					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TAAAGAAAGTCATCCAGAAAA	0.418000													18	179					1.2644e-06	1.67237e-06	0.010504	1	0
DSG1	1828	broad.mit.edu	37	18	28908159	28908159	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:28908159C>A	ENST00000257192.4	+	4	436	c.224C>A	c.(223-225)tCa>tAa	p.S75*		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	75	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CAGATTCACTCAGATTGTGCT	0.388000													6	190					0.00198382	0.00217308	0.001984	1	0
FLT1	2321	broad.mit.edu	37	13	28886159	28886159	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr13:28886159C>A	ENST00000282397.4	-	26	3714	c.3463G>T	c.(3463-3465)Ggt>Tgt	p.G1155C	FLT1_ENST00000543394.1_Missense_Mutation_p.G178C|FLT1_ENST00000540678.1_Missense_Mutation_p.G373C	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1155	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGCAAATCACCTAGTTTTTCC	0.388000													7	100					2.0095e-06	2.6219e-06	0.001984	1	0
C10orf10	11067	broad.mit.edu	37	10	45473262	45473262	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:45473262A>C	ENST00000298295.3	-	2	434	c.217T>G	c.(217-219)Tgc>Ggc	p.C73G	C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000340258.4_Intron|RASSF4_ENST00000472561.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	73						mitochondrion				lung(1)	1						CCCTTCCGGCAGGCCTGGGCT	0.662000													4	29					0	0	0.009096	0	0
DCAF5	8816	broad.mit.edu	37	14	69521853	69521853	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:69521853C>A	ENST00000341516.5	-	9	1697	c.1550G>T	c.(1549-1551)cGg>cTg	p.R517L	DCAF5_ENST00000557386.1_Missense_Mutation_p.R516L|DCAF5_ENST00000554215.1_Missense_Mutation_p.R435L|DCAF5_ENST00000556847.1_Missense_Mutation_p.R435L	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	517						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TTGGTAGCGCCGCAGAGCAGA	0.587000													9	73					3.86212e-05	4.64558e-05	0.008291	1	0
PCDHGB6	56100	broad.mit.edu	37	5	140789537	140789537	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:140789537A>G	ENST00000520790.1	+	1	1768	c.1768A>G	c.(1768-1770)Aag>Gag	p.K590E	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTAGTGACTAAGGTGGTAGC	0.647000													2	8					0	0	0.004672	0	0
USH2A	7399	broad.mit.edu	37	1	216270503	216270503	+	Silent	SNP	T	T	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:216270503T>G	ENST00000366943.2	-	22	5066	c.4680A>C	c.(4678-4680)gcA>gcC	p.A1560A	USH2A_ENST00000307340.3_Silent_p.A1560A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1560	Laminin G-like 1.				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)		CAGGTGATGCTGCAAAGACAA	0.403000										HNSCC(13;0.011)			9	150					0	0	0.004482	0	0
C17orf64	124773	broad.mit.edu	37	17	58506771	58506771	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:58506771C>A	ENST00000269127.4	+	5	562	c.478C>A	c.(478-480)Cgg>Agg	p.R160R		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	160										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			GCTGGCCGACCGGGAAGACAG	0.612000													4	53					0.00909568	0.0096699	0.009096	1	0
RNF165	494470	broad.mit.edu	37	18	44030343	44030343	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:44030343G>C	ENST00000269439.7	+	5	751	c.700G>C	c.(700-702)Gcc>Ccc	p.A234P	RNF165_ENST00000543885.1_Missense_Mutation_p.A42P	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	234							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		ACACACCTCCGCCGTACGGGA	0.517000													11	52					0	0	0.013537	0	0
DOCK10	55619	broad.mit.edu	37	2	225630471	225630471	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:225630471G>T	ENST00000409592.3	-	56	6623	c.6510C>A	c.(6508-6510)ccC>ccA	p.P2170P	DOCK10_ENST00000258390.7_Silent_p.P2176P			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2176							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGGAGACCGTGGGTAGGGCCG	0.512000													6	155					0.000157383	0.000184735	0.003080	1	0
MYOM2	9172	broad.mit.edu	37	8	2038011	2038011	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:2038011A>C	ENST00000262113.4	+	15	1966	c.1825A>C	c.(1825-1827)Acc>Ccc	p.T609P	MYOM2_ENST00000523438.1_Missense_Mutation_p.T34P	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	609					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCAGGATGTGACCGGTGAGCT	0.512000													3	65					0	0	0.000602	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535209	96535209	+	Silent	SNP	C	C	A	rs149590953		TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:96535209C>A	ENST00000371321.3	+	3	476	c.394C>A	c.(394-396)Cgg>Agg	p.R132R	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	132			R -> Q (in allele CYP2C19*6; loss of activity).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CATGACGCTGCGGAATTTTGG	0.507000													37	340					6.19805e-25	1.08875e-24	0.005524	1	0
PCDHGA4	56111	broad.mit.edu	37	5	140736531	140736531	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:140736531G>T	ENST00000571252.1	+	1	1764	c.1764G>T	c.(1762-1764)gtG>gtT	p.V588V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACCTGGTGACCAAAGTGG	0.592000													12	177					1.08611e-07	1.50577e-07	0.010729	1	0
RARA	5914	broad.mit.edu	37	17	38506137	38506137	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:38506137C>T	ENST00000254066.5	+	4	884	c.429C>T	c.(427-429)tgC>tgT	p.C143C	RARA_ENST00000394089.2_Silent_p.C143C|RARA_ENST00000394086.3_Silent_p.C159C|RARA_ENST00000425707.3_Intron|RARA_ENST00000394081.3_Silent_p.C138C	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	143					apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GCCAGTACTGCCGACTGCAGA	0.572000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								4	32					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179530122	179530122	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:179530122C>T	ENST00000589042.1	-	165	36249	c.36025G>A	c.(36025-36027)Gaa>Aaa	p.E12009K	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10155	Pro-rich.						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)			CGTGGAGTTTCTGGCTCTTCA	0.358000													16	480					0	0	0.006122	0	0
SRGAP3	9901	broad.mit.edu	37	3	9079756	9079756	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:9079756C>A	ENST00000383836.3	-	11	1854	c.1427G>T	c.(1426-1428)gGc>gTc	p.G476V	SRGAP3_ENST00000360413.3_Missense_Mutation_p.G476V|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	476					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCTGGTGGTGCCGCATTCTGC	0.458000			T	RAF1	pilocytic astrocytoma								26	267					4.4194e-11	6.84033e-11	0.013726	1	0
NACC1	112939	broad.mit.edu	37	19	13247140	13247140	+	Silent	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:13247140T>C	ENST00000292431.4	+	3	1167	c.1041T>C	c.(1039-1041)ctT>ctC	p.L347L		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	347					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CGGCTGAACTTATCAACCAGA	0.652000													3	63					0	0	0.004672	0	0
OR52L1	338751	broad.mit.edu	37	11	6007543	6007543	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:6007543G>T	ENST00000332249.4	-	1	672	c.618C>A	c.(616-618)gcC>gcA	p.A206A		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTGAGCAGGCAAGTTTCA	0.483000													13	149					3.27435e-08	4.64142e-08	0.002450	1	0
ZNF329	79673	broad.mit.edu	37	19	58639405	58639405	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:58639405C>G	ENST00000598312.1	-	4	1699	c.1466G>C	c.(1465-1467)gGg>gCg	p.G489A	ZNF329_ENST00000358067.4_Missense_Mutation_p.G489A	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GAAGGACTTCCCACATTCTGG	0.512000													18	110					0	0	0.007413	0	0
PRR23A	729627	broad.mit.edu	37	3	138724643	138724643	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:138724643G>A	ENST00000383163.2	-	1	467	c.468C>T	c.(466-468)taC>taT	p.Y156Y		NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	156								p.Y156Y(1)		endometrium(3)|kidney(1)|lung(7)	11						CGTCCTCCTCGTAGGCCTCTT	0.632000													5	46					0	0	0.001168	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263035	140263035	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:140263035C>T	ENST00000289272.2	+	1	1182	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.P394P|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCATGTCCCCTTCAAGCTGG	0.557000													31	215					0	0	0.013726	0	0
CCDC73	493860	broad.mit.edu	37	11	32657260	32657260	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:32657260C>T	ENST00000335185.5	-	14	1210	c.1167G>A	c.(1165-1167)gaG>gaA	p.E389E	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	389										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTTGTCTTCCTCAAATGTTT	0.254000													3	73					0	0	0.004672	0	0
GPR125	166647	broad.mit.edu	37	4	22390123	22390123	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:22390123C>G	ENST00000334304.5	-	19	3440	c.3171G>C	c.(3169-3171)tgG>tgC	p.W1057C	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1057					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AAGTCATGATCCACGCAAGTC	0.502000													5	181					0	0	0.001984	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560713	32560713	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:32560713G>T	ENST00000345122.3	+	2	1153	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V280L|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V280L|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V280L	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	280	FF 1.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TGAAAAACTTGTGCAGACTGT	0.333000													22	486					2.89027e-11	4.48453e-11	0.014323	1	0
KLHL25	64410	broad.mit.edu	37	15	86312943	86312943	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:86312943C>T	ENST00000337975.5	-	2	373	c.99G>A	c.(97-99)ctG>ctA	p.L33L	KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Silent_p.L33L	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	33						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						TGAGGTGGGCCAGCACACAGT	0.652000													6	50					0	0	0.001984	0	0
DNAH8	1769	broad.mit.edu	37	6	38897343	38897343	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:38897343G>T	ENST00000359357.3	+	73	10778	c.10524G>T	c.(10522-10524)ttG>ttT	p.L3508F	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.L3472F|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.L3725F|RP1-207H1.3_ENST00000453417.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCCTTTCCTTGGGCCGACCCC	0.408000													15	611					1.87028e-06	2.45038e-06	0.012319	1	0
RBM27	54439	broad.mit.edu	37	5	145610382	145610382	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:145610382A>T	ENST00000265271.5	+	6	918	c.752A>T	c.(751-753)aAc>aTc	p.N251I	RBM27_ENST00000506502.1_Missense_Mutation_p.N251I	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	251					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTCTGAAAACACAACTGAG	0.458000													14	183					0	0	0.001855	0	0
ABCA10	10349	broad.mit.edu	37	17	67170783	67170783	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:67170783C>A	ENST00000269081.4	-	25	3922	c.3013G>T	c.(3013-3015)Gga>Tga	p.G1005*	ABCA10_ENST00000519732.1_Intron|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1005					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AGCTGGAATCCCAGAAATATG	0.343000													15	339					4.72057e-08	6.64669e-08	0.003954	1	0
CLEC14A	161198	broad.mit.edu	37	14	38724497	38724497	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:38724497C>T	ENST00000342213.2	-	1	1077	c.731G>A	c.(730-732)tGt>tAt	p.C244Y		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	244						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGGGCAGGGACACAACACATC	0.617000													19	398					0	0	0.003330	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269488	150269488	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:150269488C>T	ENST00000255945.2	+	3	505	c.330C>T	c.(328-330)acC>acT	p.T110T	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.T124T	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	110							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCTTCTGACCTCCCCAGGGC	0.502000													10	240					0	0	0.006214	0	0
OR2L2	26246	broad.mit.edu	37	1	248202223	248202223	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:248202223C>A	ENST00000366479.2	+	1	750	c.654C>A	c.(652-654)ggC>ggA	p.G218G	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GTTCCTATGGCCGGGTTCTCC	0.507000													41	358					7.63091e-17	1.28676e-16	0.007835	1	0
HYDIN	54768	broad.mit.edu	37	16	70841512	70841512	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:70841512C>T	ENST00000393567.2	-	86	15487	c.15337G>A	c.(15337-15339)Gtt>Att	p.V5113I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5113										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGATAATAAACCCATTTAACT	0.463000													12	219					0	0	0.010729	0	0
ZNF862	643641	broad.mit.edu	37	7	149559100	149559100	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:149559100G>C	ENST00000223210.4	+	7	3096	c.2851G>C	c.(2851-2853)Gac>Cac	p.D951H		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	951					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						GGAGGTGTTTGACACCATGGC	0.547000													8	140					0	0	0.003080	0	0
RGS7	6000	broad.mit.edu	37	1	240966289	240966289	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:240966289T>A	ENST00000366565.1	-	16	1655	c.1274A>T	c.(1273-1275)cAc>cTc	p.H425L	RGS7_ENST00000407727.1_Missense_Mutation_p.H425L|RGS7_ENST00000366562.4_Missense_Mutation_p.H425L|RGS7_ENST00000366563.1_Missense_Mutation_p.H425L|RGS7_ENST00000366564.1_Missense_Mutation_p.H425L|RGS7_ENST00000401882.1_Missense_Mutation_p.H372L|RGS7_ENST00000348120.2_Missense_Mutation_p.H372L|RGS7_ENST00000446183.2_Missense_Mutation_p.H341L|RGS7_ENST00000331110.7_Missense_Mutation_p.H399L	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	425	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTGTAAATGTGCTCCTAAAA	0.353000													13	134					0	0	0.001855	0	0
OR4N5	390437	broad.mit.edu	37	14	20611948	20611948	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:20611948C>A	ENST00000333629.1	+	1	54	c.54C>A	c.(52-54)acC>acA	p.T18T		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TTGGTCTGACCCAGTCTCAAG	0.383000													41	561					1.19451e-25	2.10708e-25	0.014410	1	0
CCDC116	164592	broad.mit.edu	37	22	21988657	21988657	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr22:21988657C>T	ENST00000292779.3	+	3	580	c.419C>T	c.(418-420)cCg>cTg	p.P140L		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	140										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CGTGTACGGCCGACCCTCTGC	0.662000													7	291					0	0	0.003080	0	0
TMEM25	84866	broad.mit.edu	37	11	118404185	118404185	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:118404185G>T	ENST00000313236.5	+	5	777	c.724G>T	c.(724-726)Gct>Tct	p.A242S	TMEM25_ENST00000524725.1_Intron|TMEM25_ENST00000411589.2_Intron|TMEM25_ENST00000354284.4_Missense_Mutation_p.A242S|TMEM25_ENST00000533102.1_Missense_Mutation_p.A242S|TMEM25_ENST00000442938.2_Intron|TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000354064.7_Intron|TMEM25_ENST00000359862.4_Intron|TMEM25_ENST00000544878.1_Missense_Mutation_p.A145S	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	242						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TGTTGTGGCTGCTGGGCTTGC	0.617000													11	116					0.00136819	0.00151582	0.013537	1	0
TENM2	57451	broad.mit.edu	37	5	167517651	167517651	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:167517651A>T	ENST00000519204.1	+	7	1343	c.1225A>T	c.(1225-1227)Ata>Tta	p.I409L	TENM2_ENST00000403607.2_Missense_Mutation_p.I363L|TENM2_ENST00000545108.1_Missense_Mutation_p.I530L|TENM2_ENST00000518659.1_Missense_Mutation_p.I530L|TENM2_ENST00000520394.1_Missense_Mutation_p.I298L|CTB-178M22.1_ENST00000517408.1_RNA					teneurin transmembrane protein 2																		ACGCCGGAGCATACAGACCTT	0.512000													15	400					0	0	0.004007	0	0
GNA13	10672	broad.mit.edu	37	17	63010499	63010499	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:63010499T>C	ENST00000439174.2	-	4	1255	c.1010A>G	c.(1009-1011)cAg>cGg	p.Q337R	GNA13_ENST00000541118.1_Missense_Mutation_p.Q242R	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	337					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CTTCTGTTGCTGGTCCCGGCG	0.473000													17	156					0	0	0.006122	0	0
CNRIP1	25927	broad.mit.edu	37	2	68544274	68544274	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:68544274G>A	ENST00000409862.1	-	3	526	c.345C>T	c.(343-345)tgC>tgT	p.C115C	CNRIP1_ENST00000409559.3_Intron|CNRIP1_ENST00000481714.1_Intron|CNRIP1_ENST00000263655.3_Intron			Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	0							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						TCCTATACCCGCAAGCAAGCC	0.468000													17	159					0	0	0.006122	0	0
ADRA1A	148	broad.mit.edu	37	8	26721813	26721813	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:26721813T>A	ENST00000380573.3	-	2	1697	c.674A>T	c.(673-675)gAc>gTc	p.D225V	ADRA1A_ENST00000358857.5_Missense_Mutation_p.D225V|ADRA1A_ENST00000380582.3_Missense_Mutation_p.D225V|ADRA1A_ENST00000380581.2_Missense_Mutation_p.D225V|ADRA1A_ENST00000354550.4_Missense_Mutation_p.D225V|ADRA1A_ENST00000380572.3_Missense_Mutation_p.D225V|ADRA1A_ENST00000519229.1_Missense_Mutation_p.D225V|ADRA1A_ENST00000380587.1_Missense_Mutation_p.D225V|ADRA1A_ENST00000380586.1_Missense_Mutation_p.D225V|ADRA1A_ENST00000276393.4_Missense_Mutation_p.D225V			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	225					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GTCCGACTTGTCGGTCTTGAG	0.622000													4	35					0	0	0.000602	0	0
OR4C13	283092	broad.mit.edu	37	11	49974685	49974685	+	Silent	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:49974685C>G	ENST00000555099.1	+	1	743	c.711C>G	c.(709-711)acC>acG	p.T237T		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CCCTCTCTACCTGTGTCTCCC	0.468000													18	337					0	0	0.008871	0	0
DNAH9	1770	broad.mit.edu	37	17	11572432	11572432	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:11572432T>A	ENST00000262442.3	+	16	2851	c.2783T>A	c.(2782-2784)aTc>aAc	p.I928N	DNAH9_ENST00000454412.2_Missense_Mutation_p.I928N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	928	Stem (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)		AGTCTAGCCATCCCAGAGCTA	0.433000													39	402					0	0	0.014410	0	0
AHNAK	79026	broad.mit.edu	37	11	62287345	62287345	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:62287345C>T	ENST00000378024.4	-	5	14818	c.14544G>A	c.(14542-14544)aaG>aaA	p.K4848K	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4848					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTATGGAGATCTTGGGAGCTT	0.443000													24	175					0	0	0.009718	0	0
MACF1	23499	broad.mit.edu	37	1	39934309	39934309	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:39934309G>A	ENST00000564288.1	+	96	22571	c.21794G>A	c.(21793-21795)cGg>cAg	p.R7265Q	MACF1_ENST00000567887.1_Missense_Mutation_p.R7302Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R5200Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R5070Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R5200Q|MACF1_ENST00000545844.1_Missense_Mutation_p.R5200Q|MACF1_ENST00000372915.3_Missense_Mutation_p.R7158Q|MACF1_ENST00000289893.4_Missense_Mutation_p.R5708Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7158	C-terminal tail (By similarity).|Ser-rich.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGCAGTTGCGGCTGGTCCGT	0.433000													3	37					0	0	0.000602	0	0
SDK1	221935	broad.mit.edu	37	7	4119117	4119117	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:4119117C>A	ENST00000404826.2	+	22	3364	c.3225C>A	c.(3223-3225)aaC>aaA	p.N1075K	SDK1_ENST00000389531.3_Missense_Mutation_p.N1075K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1075	Fibronectin type-III 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCCATCCAACCTGGTCATTT	0.552000													13	225					9.31168e-06	1.18079e-05	0.001855	1	0
CDH2	1000	broad.mit.edu	37	18	25583117	25583117	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:25583117G>T	ENST00000269141.3	-	7	1287	c.864C>A	c.(862-864)acC>acA	p.T288T	CDH2_ENST00000399380.3_Silent_p.T257T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	288	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTGCTGTTACGGTCATCACAT	0.428000													13	92					4.36969e-10	6.53127e-10	0.001855	1	0
ZNF804A	91752	broad.mit.edu	37	2	185802364	185802364	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:185802364C>G	ENST00000302277.6	+	4	2835	c.2241C>G	c.(2239-2241)caC>caG	p.H747Q		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	747			H -> R (in dbSNP:rs12477430).			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						ATATGAAACACATGAGTCAGA	0.323000													5	153					0	0	0.000602	0	0
MAGEA11	4110	broad.mit.edu	37	X	148796183	148796183	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:148796183A>G	ENST00000355220.5	+	3	241	c.139A>G	c.(139-141)Aga>Gga	p.R47G	MAGEA11_ENST00000333104.4_Missense_Mutation_p.R18G	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	47						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GTCAACAGAAAGAGCCCCATA	0.537000													4	39					0	0	0.000602	0	0
ABCA10	10349	broad.mit.edu	37	17	67170784	67170784	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:67170784C>A	ENST00000269081.4	-	25	3921	c.3012G>T	c.(3010-3012)ctG>ctT	p.L1004L	ABCA10_ENST00000519732.1_Intron|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1004					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GCTGGAATCCCAGAAATATGA	0.343000													14	339					4.72057e-08	6.64669e-08	0.003954	1	0
RIMS1	22999	broad.mit.edu	37	6	72947526	72947526	+	Splice_Site	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:72947526G>T	ENST00000264839.7	+	9	1858	c.1857_splice	c.e9-1	p.V620_splice	RIMS1_ENST00000425662.2_Splice_Site_p.V13_splice|RIMS1_ENST00000523963.1_Splice_Site_p.V94_splice|RIMS1_ENST00000348717.5_Splice_Site_p.V620_splice|RIMS1_ENST00000520567.1_Splice_Site_p.V620_splice|RIMS1_ENST00000401910.3_Splice_Site_p.V94_splice|RIMS1_ENST00000521978.1_Splice_Site_p.V620_splice|RIMS1_ENST00000518273.1_Splice_Site_p.V620_splice|RIMS1_ENST00000522291.1_Splice_Site_p.V620_splice|RIMS1_ENST00000517960.1_Splice_Site_p.V620_splice|RIMS1_ENST00000517827.1_Splice_Site_p.V79_splice|RIMS1_ENST00000491071.2_Splice_Site_p.V620_splice			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	620	PDZ.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AATTATCCAGGTTGTTGGAGG	0.358000													7	78					0.00198382	0.00217308	0.001984	1	0
SLC6A6	6533	broad.mit.edu	37	3	14489271	14489271	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:14489271C>A	ENST00000454876.2	+	5	875	c.546C>A	c.(544-546)gtC>gtA	p.V182V	SLC6A6_ENST00000416216.2_Silent_p.V182V|SLC6A6_ENST00000360861.3_Silent_p.V182V|SLC6A6_ENST00000484191.1_3'UTR			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	182					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						ACAAGAGTGTCTGGATCACCA	0.562000													6	93					3.59834e-05	4.34899e-05	0.001168	1	0
ETV5	2119	broad.mit.edu	37	3	185775021	185775021	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:185775021T>C	ENST00000306376.5	-	11	1298	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R	ETV5_ENST00000434744.1_Missense_Mutation_p.Q351R|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.Q393R	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	351					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GGTAGGCTCCTGTTTGACTTT	0.507000			T	"""TMPRSS2, SCL45A3"""	Prostate								20	140					0	0	0.010504	0	0
SLC17A6	57084	broad.mit.edu	37	11	22363248	22363248	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:22363248C>G	ENST00000263160.3	+	2	698	c.261C>G	c.(259-261)atC>atG	p.I87M		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	87					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CCTTCGGTATCCGCTGCAACC	0.637000													8	94					0	0	0.003080	0	0
RP1	6101	broad.mit.edu	37	8	55539312	55539312	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:55539312C>A	ENST00000220676.1	+	4	3018	c.2870C>A	c.(2869-2871)cCc>cAc	p.P957H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	957					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGGAATGATCCCCATACAAAT	0.323000													4	135					0.00909568	0.0096699	0.009096	1	0
TNNI3K	51086	broad.mit.edu	37	1	74954873	74954873	+	Splice_Site	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:74954873G>C	ENST00000370891.2	+	24	2441	c.2424_splice	c.e24-1	p.G809_splice	FPGT-TNNI3K_ENST00000557284.1_Splice_Site_p.G809_splice|LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_Splice_Site_p.G708_splice	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						CTATTTACAGGGAAGACCCGA	0.338000													11	355					0	0	0.010729	0	0
CHDC2	286464	broad.mit.edu	37	X	36156083	36156083	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:36156083C>G	ENST00000378660.1	+	9	1242	c.1054C>G	c.(1054-1056)Cct>Gct	p.P352A	CHDC2_ENST00000313548.4_Missense_Mutation_p.P352A					calponin homology domain containing 2																		AGATGTTATCCCTTCTGAGAG	0.333000													6	62					0	0	0.003080	0	0
MAMLD1	10046	broad.mit.edu	37	X	149638912	149638912	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:149638912C>A	ENST00000370401.2	+	4	1377	c.1067C>A	c.(1066-1068)cCa>cAa	p.P356Q	MAMLD1_ENST00000432680.2_Missense_Mutation_p.P331Q|MAMLD1_ENST00000262858.5_Missense_Mutation_p.P356Q|MAMLD1_ENST00000426613.2_Missense_Mutation_p.P331Q			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	356	Poly-Pro.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					ctgccaccaccaccaccccca	0.627000													8	60					5.16669e-11	7.92895e-11	0.010729	1	0
GCN1L1	10985	broad.mit.edu	37	12	120572172	120572172	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:120572172C>A	ENST00000300648.6	-	53	7252	c.7240G>T	c.(7240-7242)Gga>Tga	p.G2414*		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2414					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCCCTGCTCCCTGAATCACA	0.607000													15	40					5.3912e-06	6.87787e-06	0.006122	1	0
COL22A1	169044	broad.mit.edu	37	8	139675980	139675980	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:139675980G>T	ENST00000303045.6	-	42	3600	c.3154C>A	c.(3154-3156)Cct>Act	p.P1052T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1032T|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1052	Collagen-like 9.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGTCCGGAAGGGCCCTAGAAA	0.433000										HNSCC(7;0.00092)			9	192					7.48243e-07	1.00109e-06	0.006214	1	0
NRXN1	9378	broad.mit.edu	37	2	50724684	50724684	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:50724684T>A	ENST00000404971.1	-	15	4125	c.2786A>T	c.(2785-2787)gAt>gTt	p.D929V	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.D881V|NRXN1_ENST00000406859.3_Missense_Mutation_p.D889V|NRXN1_ENST00000406316.2_Missense_Mutation_p.D889V|NRXN1_ENST00000401669.2_Missense_Mutation_p.D889V|NRXN1_ENST00000405472.3_Missense_Mutation_p.D881V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	889	Laminin G-like 5.				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)			CTCACAGTAATCTATGTCGCC	0.438000													4	161					0	0	0.000602	0	0
GPR32	2854	broad.mit.edu	37	19	51274680	51274680	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:51274680G>A	ENST00000270590.4	+	1	960	c.823G>A	c.(823-825)Gtg>Atg	p.V275M		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	275						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GTTTAACGTGGTGCTGTTGGT	0.587000													23	70					0	0	0.002780	0	0
PRMT3	10196	broad.mit.edu	37	11	20473749	20473749	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:20473749G>T	ENST00000331079.6	+	11	1284	c.1067G>T	c.(1066-1068)gGc>gTc	p.G356V	PRMT3_ENST00000437750.2_Missense_Mutation_p.G294V	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	356							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GCAAAAGGAGGCTCGGGTGAG	0.353000													10	126					0.00010058	0.000118833	0.013537	1	0
EVC2	132884	broad.mit.edu	37	4	5633700	5633700	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:5633700C>A	ENST00000310917.2	-	11	2021	c.1290G>T	c.(1288-1290)ttG>ttT	p.L430F	EVC2_ENST00000344408.5_Missense_Mutation_p.L510F|EVC2_ENST00000344938.1_Missense_Mutation_p.L510F	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	510						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GAGACTTCCTCAAGTGCTCCT	0.502000													7	94					0.000157383	0.000184735	0.003080	1	0
VANGL2	57216	broad.mit.edu	37	1	160389144	160389144	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:160389144G>C	ENST00000368061.2	+	4	1019	c.545G>C	c.(544-546)cGt>cCt	p.R182P		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	182					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTGTGCTGCGTGCCCTGCTT	0.617000													18	450					0	0	0.014323	0	0
PNLIP	5406	broad.mit.edu	37	10	118314689	118314689	+	Splice_Site	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:118314689G>T	ENST00000369221.2	+	7	599		c.e7-1			NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase						lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CTTTACTTTAGGGTTGGACCC	0.433000													5	137					4.096e-09	5.96684e-09	0.001168	1	0
DNAH11	8701	broad.mit.edu	37	7	21640543	21640543	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:21640543G>T	ENST00000328843.6	+	16	3281	c.3250G>T	c.(3250-3252)Gaa>Taa	p.E1084*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.E1084*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1084	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCAATTCAAAGAACAGGCAAG	0.378000									Kartagener syndrome				38	251					6.97489e-18	1.18884e-17	0.004878	1	0
CCDC178	374864	broad.mit.edu	37	18	30969551	30969551	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:30969551T>A	ENST00000383096.3	-	5	343	c.161A>T	c.(160-162)aAg>aTg	p.K54M	CCDC178_ENST00000402325.1_Missense_Mutation_p.K54M|CCDC178_ENST00000579916.1_Missense_Mutation_p.K54M|CCDC178_ENST00000300227.8_Missense_Mutation_p.K54M|CCDC178_ENST00000583930.1_Missense_Mutation_p.K54M|CCDC178_ENST00000406524.2_Missense_Mutation_p.K54M|CCDC178_ENST00000579947.1_Missense_Mutation_p.K54M|CCDC178_ENST00000403303.1_Missense_Mutation_p.K54M					coiled-coil domain containing 178																		ACTGTTCTCCTTAGAGGCTCC	0.264000													11	88					0	0	0.002450	0	0
CD163	9332	broad.mit.edu	37	12	7656250	7656250	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:7656250C>G	ENST00000359156.4	-	1	239	c.37G>C	c.(37-39)Gga>Cga	p.G13R	CD163_ENST00000396620.3_Missense_Mutation_p.G13R|CD163_ENST00000432237.2_Missense_Mutation_p.G13R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	13					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCAGCAGATCCAGAGTCTTCA	0.338000													7	152					0	0	0.003080	0	0
ISM2	145501	broad.mit.edu	37	14	77944654	77944654	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:77944654C>A	ENST00000393684.3	-	7	1256	c.865G>T	c.(865-867)Gac>Tac	p.D289Y	ISM2_ENST00000429906.1_Missense_Mutation_p.D296Y|ISM2_ENST00000493585.1_Missense_Mutation_p.R261S|ISM2_ENST00000342219.4_Missense_Mutation_p.D377Y|ISM2_ENST00000412904.1_Missense_Mutation_p.D296Y			Q6H9L7	ISM2_HUMAN	isthmin 2	377						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CCCAAGGTGTCCTTGTCCTCA	0.632000													11	128					1.49906e-05	1.86533e-05	0.002450	1	0
DIAPH1	1729	broad.mit.edu	37	5	140961926	140961926	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:140961926T>C	ENST00000253811.6	-	7	777	c.637A>G	c.(637-639)Aac>Gac	p.N213D	DIAPH1_ENST00000518047.1_Missense_Mutation_p.N204D|DIAPH1_ENST00000389054.3_Missense_Mutation_p.N213D|DIAPH1_ENST00000398557.4_Missense_Mutation_p.N213D|DIAPH1_ENST00000398562.2_Missense_Mutation_p.N204D|DIAPH1_ENST00000398566.3_Missense_Mutation_p.N204D|DIAPH1_ENST00000389057.5_Missense_Mutation_p.N204D|DIAPH1_ENST00000520569.1_Missense_Mutation_p.N159D			O60610	DIAP1_HUMAN	diaphanous-related formin 1	213	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATGCTTGTTCCGGCTATCG	0.408000													7	236					0	0	0.003080	0	0
GLP1R	2740	broad.mit.edu	37	6	39046137	39046137	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:39046137A>T	ENST00000373256.4	+	8	906	c.863A>T	c.(862-864)aAg>aTg	p.K288M		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	288					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GGCATTGTCAAGTACCTCTAT	0.597000													11	244					0	0	0.003163	0	0
CD53	963	broad.mit.edu	37	1	111440474	111440474	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:111440474T>C	ENST00000271324.5	+	7	660	c.548T>C	c.(547-549)cTg>cCg	p.L183P	CD53_ENST00000429072.2_Missense_Mutation_p.L124P|CD53_ENST00000497404.1_Intron	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	183					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		TCCAATTTCCTGTATATCGGA	0.383000													9	388					0	0	0.013537	0	0
GPR98	84059	broad.mit.edu	37	5	90052446	90052446	+	Splice_Site	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:90052446G>C	ENST00000405460.2	+	56	11852	c.11757_splice	c.e56+1	p.R3919_splice		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3919					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATGTTACTAGAGTGAGATGA	0.393000													4	62					0	0	0.009096	0	0
CDHR1	92211	broad.mit.edu	37	10	85972974	85972974	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:85972974C>A	ENST00000372117.3	+	16	2013	c.1910C>A	c.(1909-1911)tCc>tAc	p.S637Y	CDHR1_ENST00000332904.3_Missense_Mutation_p.S637Y|CDHR1_ENST00000440770.2_Missense_Mutation_p.S341Y	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	637	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TCCATCCGCTCCCTGGATGCC	0.587000													34	161					5.8336e-16	9.74582e-16	0.003271	1	0
ZNF677	342926	broad.mit.edu	37	19	53741220	53741220	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:53741220C>A	ENST00000333952.4	-	5	925	c.760G>T	c.(760-762)Ggg>Tgg	p.G254W	ZNF677_ENST00000598513.1_Missense_Mutation_p.G254W			Q86XU0	ZN677_HUMAN	zinc finger protein 677	254			G -> E (in dbSNP:rs10425706).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TGTGTTCTCCCATACTGTGTA	0.343000													14	70					6.72482e-11	1.02578e-10	0.003163	1	0
SYNJ2	8871	broad.mit.edu	37	6	158514936	158514936	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:158514936G>T	ENST00000367121.3	+	27	3867	c.3761G>T	c.(3760-3762)cGc>cTc	p.R1254L	SYNJ2_ENST00000367112.1_Intron|SYNJ2_ENST00000355585.4_Intron|SYNJ2_ENST00000367122.2_Intron			O15056	SYNJ2_HUMAN	synaptojanin 2	0	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TTTTGCTCTCGCTCTCAAGCT	0.488000													40	130					2.87052e-16	4.8147e-16	0.005524	1	0
STX19	415117	broad.mit.edu	37	3	93733408	93733408	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:93733408T>A	ENST00000315099.2	-	2	962	c.706A>T	c.(706-708)Ata>Tta	p.I236L	ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000539730.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	236	t-SNARE coiled-coil homology.				intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						AAAAGAGATATCTGAATGAAA	0.323000													12	56					0	0	0.010729	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34118203	34118203	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:34118203C>G	ENST00000341394.4	+	16	2072	c.1883C>G	c.(1882-1884)cCt>cGt	p.P628R	CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.P628R|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.P628R|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.P547R|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.P628R	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	628					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TACCGGGGCCCTGCCAATGGA	0.403000													5	66					0	0	0.000602	0	0
FGB	2244	broad.mit.edu	37	4	155490722	155490722	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:155490722G>C	ENST00000302068.4	+	7	1078	c.1015G>C	c.(1015-1017)Gaa>Caa	p.E339Q	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.E120Q	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	339	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.E339Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GGGACCCACAGAACTTTTGAT	0.363000													15	225					0	0	0.004007	0	0
SLC26A7	115111	broad.mit.edu	37	8	92261991	92261991	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:92261991G>T	ENST00000276609.3	+	2	351	c.112G>T	c.(112-114)Gca>Tca	p.A38S	SLC26A7_ENST00000309536.2_Missense_Mutation_p.A38S|SLC26A7_ENST00000523719.1_Missense_Mutation_p.A38S	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	38						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTTGGATTGGGCACCACATTA	0.438000													8	204					0.00621372	0.0066734	0.006214	1	0
IRF2BP2	359948	broad.mit.edu	37	1	234742946	234742946	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:234742946C>G	ENST00000366609.3	-	2	1731	c.1701G>C	c.(1699-1701)atG>atC	p.M567I	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.M551I	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			TTTCCCCTTGCATAAAGGCCC	0.478000													6	130					0	0	0.003080	0	0
SYT10	341359	broad.mit.edu	37	12	33579224	33579224	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:33579224C>G	ENST00000228567.3	-	2	654	c.358G>C	c.(358-360)Gaa>Caa	p.E120Q	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	120						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GCTGGCTTTTCATTTTCCTTA	0.398000													10	280					0	0	0.006214	0	0
FAM47A	158724	broad.mit.edu	37	X	34150081	34150081	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:34150081G>A	ENST00000346193.3	-	1	366	c.315C>T	c.(313-315)tcC>tcT	p.S105S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	105										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAGAGAGCTTGGAAAATAGGG	0.547000													12	158					0	0	0.010729	0	0
GLT8D2	83468	broad.mit.edu	37	12	104388148	104388148	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:104388148G>T	ENST00000360814.4	-	9	1137	c.732C>A	c.(730-732)acC>acA	p.T244T	GLT8D2_ENST00000546436.1_Silent_p.T244T|GLT8D2_ENST00000548660.1_Silent_p.T244T	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	244						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CCAATTGCTTGGTGATGCGCT	0.443000													10	166					0.000978159	0.00109912	0.010729	1	0
STOML3	161003	broad.mit.edu	37	13	39564834	39564834	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr13:39564834C>A	ENST00000379631.4	-	1	369	c.25G>T	c.(25-27)Gag>Tag	p.E9*	STOML3_ENST00000423210.1_5'UTR	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	9						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)		TCTTGCTTCTCAGGTGAAGAC	0.393000													7	115					0.00198382	0.00217308	0.001984	1	0
CNOT6L	246175	broad.mit.edu	37	4	78669518	78669518	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:78669518G>A	ENST00000504123.1	-	6	641	c.511C>T	c.(511-513)Ccg>Tcg	p.P171S	CNOT6L_ENST00000264903.4_Missense_Mutation_p.P171S|CNOT6L_ENST00000506166.1_5'UTR			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	171					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CATGGCCTCGGAGGAAGCTGC	0.308000													6	82					0	0	0.001984	0	0
CCDC129	223075	broad.mit.edu	37	7	31592621	31592621	+	Silent	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:31592621T>C	ENST00000451887.2	+	2	73	c.61T>C	c.(61-63)Ttg>Ctg	p.L21L	CCDC129_ENST00000482748.1_Intron|CCDC129_ENST00000319386.3_5'UTR|CCDC129_ENST00000407970.3_5'UTR	NM_001257968.1	NP_001244897.1	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	0										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTAAGTTAGTTTGCAGAATTA	0.453000													5	52					0	0	0.001168	0	0
EPHA10	284656	broad.mit.edu	37	1	38227522	38227522	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:38227522G>A	ENST00000373048.4	-	3	404	c.405C>T	c.(403-405)gcC>gcT	p.A135A	EPHA10_ENST00000319637.6_Silent_p.A135A|EPHA10_ENST00000427468.2_Silent_p.A135A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	135						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCCCAGGTCGGCCTCAGTTT	0.662000													6	77					0	0	0.001984	0	0
NPAP1	23742	broad.mit.edu	37	15	24922853	24922853	+	Missense_Mutation	SNP	C	C	A	rs113030613	byFrequency	TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:24922853C>A	ENST00000329468.2	+	1	2313	c.1839C>A	c.(1837-1839)caC>caA	p.H613Q		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AGCAGAGGCACCCGGGAAAGA	0.473000													10	135					0.000442599	0.000508647	0.006214	1	0
IGHV4-39	28394	broad.mit.edu	37	14	106877724	106877724	+	RNA	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:106877724G>T	ENST00000390619.2	-	0	319																											GACTCTTGAGGGACGGGTTGT	0.552000													8	159					0.000274275	0.000316645	0.004482	1	0
PAPSS2	9060	broad.mit.edu	37	10	89475487	89475487	+	Splice_Site	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:89475487A>T	ENST00000361175.4	+	7	1122		c.e7-1		PAPSS2_ENST00000456849.1_Splice_Site|PAPSS2_ENST00000427144.2_Splice_Site	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2						3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TGTGTTTTGCAGCTGGATCTC	0.478000													7	92					0	0	0.001984	0	0
FBXO11	80204	broad.mit.edu	37	2	48060016	48060016	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:48060016T>A	ENST00000403359.3	-	9	1117	c.1045A>T	c.(1045-1047)Aac>Tac	p.N349Y	FBXO11_ENST00000316377.4_Missense_Mutation_p.N265Y|FBXO11_ENST00000402508.1_Missense_Mutation_p.N265Y	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	349					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCATCAGGGTTAAACTGAAAA	0.318000			"""Mis, F, D"""		DLBCL								18	217					0	0	0.007413	0	0
PROX1	5629	broad.mit.edu	37	1	214171089	214171089	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:214171089C>A	ENST00000366958.4	+	2	1819	c.1211C>A	c.(1210-1212)aCc>aAc	p.T404N	PROX1_ENST00000498508.2_Missense_Mutation_p.T404N|PROX1_ENST00000435016.1_Missense_Mutation_p.T404N|PROX1_ENST00000261454.4_Missense_Mutation_p.T404N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	404					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AATTTCCACACCGCCAACCAG	0.572000													12	310					0.00010058	0.000118833	0.013537	1	0
HEPHL1	341208	broad.mit.edu	37	11	93779012	93779012	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:93779012A>C	ENST00000315765.9	+	2	352	c.344A>C	c.(343-345)cAt>cCt	p.H115P		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	115	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATTGTCATTCATTTAAAGAAC	0.458000													15	129					0	0	0.002450	0	0
EHD3	30845	broad.mit.edu	37	2	31484531	31484531	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:31484531G>T	ENST00000322054.5	+	5	1317	c.1032G>T	c.(1030-1032)cgG>cgT	p.R344R	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	344					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GGATCGAGCGGGAGCACCAGA	0.577000													10	219					0.000219431	0.000256851	0.002450	1	0
DNAH10	196385	broad.mit.edu	37	12	124350561	124350561	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:124350561C>A	ENST00000409039.3	+	40	6779	c.6754C>A	c.(6754-6756)Cct>Act	p.P2252T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2252	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTATGTGGATCCTAAAAACTT	0.323000													42	127					6.5261e-18	1.11385e-17	0.008740	1	0
MYO18B	84700	broad.mit.edu	37	22	26239790	26239790	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr22:26239790G>T	ENST00000335473.7	+	18	3547	c.3297G>T	c.(3295-3297)acG>acT	p.T1099T	MYO18B_ENST00000536101.1_Silent_p.T1099T|MYO18B_ENST00000407587.2_Silent_p.T1100T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1099	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACGACCTCACGGGCTGGCTCC	0.627000													8	100					1.12685e-05	1.42321e-05	0.004482	1	0
FLG2	388698	broad.mit.edu	37	1	152325345	152325345	+	Silent	SNP	T	T	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:152325345T>G	ENST00000388718.5	-	3	4989	c.4917A>C	c.(4915-4917)acA>acC	p.T1639T	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1639							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCCTCTCTGTGTGGACTGTC	0.502000													35	497					0	0	0.003755	0	0
C14orf177	283598	broad.mit.edu	37	14	99183605	99183605	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:99183605G>C	ENST00000325812.2	+	4	791	c.372G>C	c.(370-372)caG>caC	p.Q124H		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	124										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				AGATGTCACAGATGTAACTAT	0.408000													12	140					0	0	0.010729	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764360	109764360	+	RNA	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:109764360G>A	ENST00000602699.1	+	0	821					NR_002718.2																						TAAAAGCTATGGACTGCAGGA	0.453000													12	127					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179611114	179611114	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:179611114G>A	ENST00000360870.5	-	46	16235	c.16013C>T	c.(16012-16014)cCt>cTt	p.P5338L	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8847	Ig-like 34.						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)			TTTATGGTCAGGAGTAAATTC	0.348000													22	122					0	0	0.003330	0	0
SLC4A7	9497	broad.mit.edu	37	3	27462238	27462238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:27462238G>A	ENST00000295736.5	-	10	1508	c.1438C>T	c.(1438-1440)Cag>Tag	p.Q480*	SLC4A7_ENST00000454389.1_Nonsense_Mutation_p.Q489*|SLC4A7_ENST00000437179.1_Nonsense_Mutation_p.Q361*|SLC4A7_ENST00000440156.1_Nonsense_Mutation_p.Q476*|SLC4A7_ENST00000435667.2_Nonsense_Mutation_p.Q365*|SLC4A7_ENST00000388777.4_Nonsense_Mutation_p.Q30*|SLC4A7_ENST00000425128.2_Nonsense_Mutation_p.Q472*|SLC4A7_ENST00000445684.1_Nonsense_Mutation_p.Q476*|SLC4A7_ENST00000455077.1_Nonsense_Mutation_p.Q361*|SLC4A7_ENST00000446700.1_Nonsense_Mutation_p.Q472*|SLC4A7_ENST00000428386.1_Nonsense_Mutation_p.Q356*	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	480						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TCATGGTACTGTGGTGCCTTG	0.378000													7	108					0	0	0.003080	0	0
PRKDC	5591	broad.mit.edu	37	8	48711809	48711809	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:48711809C>A	ENST00000314191.2	-	73	10312	c.10256G>T	c.(10255-10257)tGt>tTt	p.C3419F	PRKDC_ENST00000338368.3_Missense_Mutation_p.C3419F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3420	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTGTTGGTCACAGAAATCTGC	0.502000								Non-homologous end-joining					5	121					8.12818e-05	9.6303e-05	0.001984	1	0
FAM83B	222584	broad.mit.edu	37	6	54735414	54735414	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:54735414C>G	ENST00000306858.7	+	2	486	c.370C>G	c.(370-372)Ctt>Gtt	p.L124V		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	124										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TATAGATCTCCTTTTTCATCC	0.413000													6	129					0	0	0.001168	0	0
ZNF142	7701	broad.mit.edu	37	2	219508191	219508191	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:219508191C>T	ENST00000411696.2	-	7	3827	c.3048G>A	c.(3046-3048)ctG>ctA	p.L1016L	ZNF142_ENST00000449707.1_Silent_p.L1016L			P52746	ZN142_HUMAN	zinc finger protein 142	1016					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGTGCTTCTTCAGGGCCTCTG	0.582000													14	108					0	0	0.007413	0	0
MUC17	140453	broad.mit.edu	37	7	100679973	100679973	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:100679973C>T	ENST00000306151.4	+	3	5340	c.5276C>T	c.(5275-5277)aCg>aTg	p.T1759M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1759	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)					GTCAGCACCACGCCGGTACTC	0.502000													14	216					0	0	0.004990	0	0
SLC41A1	254428	broad.mit.edu	37	1	205779243	205779243	+	Silent	SNP	T	T	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:205779243T>G	ENST00000367137.3	-	2	1341	c.327A>C	c.(325-327)gcA>gcC	p.A109A		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	109						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TCCCAAAGCCTGCCAGGAGGA	0.612000													15	108					0	0	0.003163	0	0
C8A	731	broad.mit.edu	37	1	57372415	57372415	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:57372415G>T	ENST00000361249.3	+	8	1268	c.1172G>T	c.(1171-1173)gGt>gTt	p.G391V		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	391	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ATAAATGTTGGTGGAGGTTTA	0.413000													28	248					1.75199e-13	2.83687e-13	0.007291	1	0
DNAH8	1769	broad.mit.edu	37	6	38890849	38890849	+	Missense_Mutation	SNP	G	G	C	rs141263020	byFrequency	TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:38890849G>C	ENST00000359357.3	+	70	10281	c.10027G>C	c.(10027-10029)Gct>Cct	p.A3343P	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.A3307P|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.A3560P					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCTTAATGACGCTGATACGTG	0.418000													8	144					0	0	0.004482	0	0
SLC17A6	57084	broad.mit.edu	37	11	22364886	22364886	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:22364886A>T	ENST00000263160.3	+	3	870	c.433A>T	c.(433-435)Atc>Ttc	p.I145F		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	145					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGGAGGCTACATCGCGTCTCG	0.587000													4	107					0	0	0.004482	0	0
GRAP2	9402	broad.mit.edu	37	22	40351868	40351868	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr22:40351868C>A	ENST00000344138.4	+	3	387	c.124C>A	c.(124-126)Cag>Aag	p.Q42K	GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000543252.1_Missense_Mutation_p.Q42K|GRAP2_ENST00000544756.1_Intron|GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000407075.3_Missense_Mutation_p.Q42K|GRAP2_ENST00000478445.1_3'UTR	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	42	SH3 1.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GCTTGGGAGCCAGGAAGGATA	0.453000													9	189					1.58986e-06	2.08732e-06	0.008291	1	0
OR1L4	254973	broad.mit.edu	37	9	125487003	125487003	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr9:125487003C>G	ENST00000259466.1	+	1	735	c.735C>G	c.(733-735)caC>caG	p.H245Q		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						GTGGCTCCCACCTCACTGTAG	0.517000													15	172					0	0	0.006122	0	0
ZC3H14	79882	broad.mit.edu	37	14	89061133	89061133	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:89061133G>A	ENST00000555900.1	+	1	375	c.63G>A	c.(61-63)gtG>gtA	p.V21V	ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000406216.3_Silent_p.V21V|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000251038.5_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000318308.6_Silent_p.V21V|ZC3H14_ENST00000556945.1_Intron			Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	0						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CGGAGCCAGTGGACTTAGGTT	0.373000													20	266					0	0	0.014323	0	0
PLEC	5339	broad.mit.edu	37	8	144990835	144990835	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:144990835T>A	ENST00000322810.4	-	32	13734	c.13565A>T	c.(13564-13566)cAg>cTg	p.Q4522L	PLEC_ENST00000398774.2_Missense_Mutation_p.Q4353L|PLEC_ENST00000436759.2_Missense_Mutation_p.Q4412L|PLEC_ENST00000345136.3_Missense_Mutation_p.Q4385L|PLEC_ENST00000354589.3_Missense_Mutation_p.Q4385L|PLEC_ENST00000527096.1_Missense_Mutation_p.Q4408L|PLEC_ENST00000354958.2_Missense_Mutation_p.Q4363L|PLEC_ENST00000357649.2_Missense_Mutation_p.Q4389L|PLEC_ENST00000356346.3_Missense_Mutation_p.Q4371L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4522	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGGAAGCGCTGGCCGGCCTC	0.701000													6	14					0	0	0.001984	0	0
ZP4	57829	broad.mit.edu	37	1	238045748	238045748	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:238045748T>A	ENST00000366570.4	-	12	1755	c.1597A>T	c.(1597-1599)Agt>Tgt	p.S533C	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	533					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCTGGGCAACTCTTCTGTTTC	0.443000													13	218					0	0	0.002450	0	0
CHRFAM7A	89832	broad.mit.edu	37	15	30659671	30659671	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:30659671C>T	ENST00000397827.3	-	8	1171	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	CHRFAM7A_ENST00000299847.2_Missense_Mutation_p.V224M|CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.V133M	NM_148911.1	NP_683709.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	224						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TACTGCAGCACGATCACCGTC	0.637000													4	77					0	0	0.000602	0	0
GFRA1	2674	broad.mit.edu	37	10	117853300	117853300	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:117853300C>A	ENST00000439649.3	-	7	1280	c.913G>T	c.(913-915)Gcc>Tcc	p.A305S	GFRA1_ENST00000369236.1_Missense_Mutation_p.A305S|GFRA1_ENST00000355422.6_Missense_Mutation_p.A310S|GFRA1_ENST00000544592.1_Missense_Mutation_p.A189S	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	310					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CACCATGGGGCCACACTGAGG	0.403000													19	92					7.33532e-06	9.33922e-06	0.003954	1	0
DOCK2	1794	broad.mit.edu	37	5	169101390	169101390	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:169101390C>A	ENST00000256935.8	+	6	491	c.411C>A	c.(409-411)ccC>ccA	p.P137P		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	137					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAACCTTACCCAAGGATGAGC	0.488000													28	153					5.09552e-08	7.15867e-08	0.010818	1	0
CSMD3	114788	broad.mit.edu	37	8	113668426	113668426	+	Silent	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:113668426T>C	ENST00000297405.5	-	18	3205	c.2961A>G	c.(2959-2961)acA>acG	p.T987T	CSMD3_ENST00000343508.3_Silent_p.T947T|CSMD3_ENST00000455883.2_Silent_p.T883T|CSMD3_ENST00000352409.3_Silent_p.T987T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	987	CUB 5.					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						GACTGTTGTCTGTTGTAAATA	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	110					0	0	0.003080	0	0
NRXN3	9369	broad.mit.edu	37	14	79432587	79432587	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:79432587C>T	ENST00000554719.1	+	9	1987	c.1496C>T	c.(1495-1497)cCt>cTt	p.P499L	NRXN3_ENST00000335750.5_Missense_Mutation_p.P499L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATCGCTGACCCTGTCACCTTT	0.468000													7	191					0	0	0.008291	0	0
WIPF1	7456	broad.mit.edu	37	2	175440100	175440100	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:175440100C>A	ENST00000392547.2	-	4	289	c.190G>T	c.(190-192)Gga>Tga	p.G64*	WIPF1_ENST00000409891.1_Nonsense_Mutation_p.G64*|WIPF1_ENST00000409415.3_Nonsense_Mutation_p.G64*|WIPF1_ENST00000359761.3_Nonsense_Mutation_p.G64*|WIPF1_ENST00000392546.2_Nonsense_Mutation_p.G64*|WIPF1_ENST00000272746.5_Nonsense_Mutation_p.G64*|WIPF1_ENST00000410117.1_Nonsense_Mutation_p.G64*|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|AC010894.5_ENST00000454203.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	64	Gly-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						gcaccaGCTCCTTTAGGTTCT	0.607000													38	317					7.05121e-23	1.22331e-22	0.010771	1	0
CCL13	6357	broad.mit.edu	37	17	32684527	32684527	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:32684527C>T	ENST00000225844.2	+	2	185	c.110C>T	c.(109-111)aCa>aTa	p.T37I		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	37					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				TGCTGCTTCACATTTAGCAGT	0.448000													33	312					0	0	0.004289	0	0
SPDL1	54908	broad.mit.edu	37	5	169028388	169028388	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:169028388G>T	ENST00000265295.4	+	11	1708	c.1429G>T	c.(1429-1431)Gtt>Ttt	p.V477F		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		CGGGGGAGAAGTTTATCGATT	0.443000													18	170					4.35082e-09	6.33074e-09	0.010504	1	0
ITIH5	80760	broad.mit.edu	37	10	7611657	7611657	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:7611657C>T	ENST00000256861.6	-	12	2201	c.2123G>A	c.(2122-2124)aGg>aAg	p.R708K	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Missense_Mutation_p.R490K|ITIH5_ENST00000298441.6_Missense_Mutation_p.R494K	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	708					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						AGAGACCAGCCTGAGGATGTC	0.562000													14	44					0	0	0.001855	0	0
OR4N5	390437	broad.mit.edu	37	14	20612474	20612474	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:20612474G>T	ENST00000333629.1	+	1	580	c.580G>T	c.(580-582)Gtg>Ttg	p.V194L		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CAATACCTTTGTGGTGGAGCT	0.537000													22	183					2.08468e-23	3.63667e-23	0.012319	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33581349	33581349	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:33581349A>T	ENST00000321505.4	+	6	3199	c.3019A>T	c.(3019-3021)Aat>Tat	p.N1007Y	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.N1013Y|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.N1013Y					KIAA1549-like																		CGTCGTGGGCAATCAGAGCAC	0.567000													23	198					0	0	0.014323	0	0
HDAC9	9734	broad.mit.edu	37	7	18688195	18688195	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:18688195C>A	ENST00000406451.3	+	11	1497	c.1347C>A	c.(1345-1347)acC>acA	p.T449T	HDAC9_ENST00000401921.1_Silent_p.T408T|HDAC9_ENST00000417496.2_Silent_p.T447T|HDAC9_ENST00000428307.2_Silent_p.T405T|HDAC9_ENST00000524023.1_Silent_p.T372T|HDAC9_ENST00000456174.2_Silent_p.T421T|HDAC9_ENST00000441542.2_Silent_p.T452T|HDAC9_ENST00000406072.1_Silent_p.T436T|HDAC9_ENST00000432645.2_Silent_p.T449T|HDAC9_ENST00000405010.3_Silent_p.T449T	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	449					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGAACCGAACCCAGTCTGCAC	0.512000													5	137					0.00116845	0.00129793	0.001168	1	0
ARHGEF11	9826	broad.mit.edu	37	1	156907157	156907157	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:156907157C>G	ENST00000368194.3	-	39	5363	c.4324G>C	c.(4324-4326)Gga>Cga	p.G1442R	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.G818R|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.G1402R	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1402					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCGTTGCCTCCCTGCAGCTGA	0.632000													6	76					0	0	0.001984	0	0
CCNL1	57018	broad.mit.edu	37	3	156867082	156867082	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:156867082C>T	ENST00000295926.3	-	10	1344	c.1226G>A	c.(1225-1227)aGa>aAa	p.R409K	CCNL1_ENST00000461804.1_Missense_Mutation_p.R409K	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	409	RS.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			TTACTGTCTTCTTGGAGTATG	0.333000													27	328					0	0	0.006320	0	0
RXRG	6258	broad.mit.edu	37	1	165380195	165380195	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:165380195C>G	ENST00000359842.5	-	5	1076	c.774G>C	c.(772-774)atG>atC	p.M258I	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	258	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CCGAGTTCTCCATATTCATGT	0.468000													8	158					0	0	0.004482	0	0
IL5RA	3568	broad.mit.edu	37	3	3139691	3139691	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:3139691C>T	ENST00000446632.2	-	7	1146	c.572G>A	c.(571-573)gGg>gAg	p.G191E	IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000438560.1_Missense_Mutation_p.G191E|IL5RA_ENST00000418488.2_Missense_Mutation_p.G191E|IL5RA_ENST00000311981.8_Missense_Mutation_p.G191E|IL5RA_ENST00000383846.1_Missense_Mutation_p.G191E|IL5RA_ENST00000430514.2_Missense_Mutation_p.G191E|IL5RA_ENST00000256452.3_Missense_Mutation_p.G191E|IL5RA_ENST00000456302.1_Missense_Mutation_p.G191E	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	191					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GATATTTCTCCCCAGTGTGTC	0.468000													25	171					0	0	0.005443	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432950	73432950	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:73432950C>A	ENST00000263666.4	-	10	2881	c.2767G>T	c.(2767-2769)Gtg>Ttg	p.V923L	PDZRN3_ENST00000466780.1_Missense_Mutation_p.V580L|PDZRN3_ENST00000462146.2_Missense_Mutation_p.V580L|PDZRN3_ENST00000535920.1_Missense_Mutation_p.V645L|PDZRN3_ENST00000479530.1_Missense_Mutation_p.V640L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	923							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGGATCTTCACCTTCCACTCC	0.672000													7	27					0.000157383	0.000184735	0.003080	1	0
DLGAP3	58512	broad.mit.edu	37	1	35370206	35370206	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:35370206C>A	ENST00000373347.1	-	3	1047	c.779G>T	c.(778-780)tGg>tTg	p.W260L	DLGAP3_ENST00000235180.4_Missense_Mutation_p.W260L			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	260					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGAACTCCACCAGCCTGTGGA	0.652000													22	381					6.04164e-23	1.0496e-22	0.010818	1	0
DSCAM	1826	broad.mit.edu	37	21	41684064	41684064	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr21:41684064C>A	ENST00000400454.1	-	9	2483	c.2006G>T	c.(2005-2007)tGc>tTc	p.C669F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	669	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCGGGCTATGCAGGTGTAATT	0.512000													9	216					3.07112e-06	3.9742e-06	0.010729	1	0
FAM47C	442444	broad.mit.edu	37	X	37028542	37028542	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:37028542G>T	ENST00000358047.3	+	1	2111	c.2059G>T	c.(2059-2061)Gta>Tta	p.V687L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	687										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGAGACTCGCGTATCTCATCT	0.657000													5	42					5.9392e-07	8.02268e-07	0.001168	1	0
NCOA2	10499	broad.mit.edu	37	8	71075713	71075713	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:71075713G>A	ENST00000452400.2	-	8	1000	c.819C>T	c.(817-819)cgC>cgT	p.R273R		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	273					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGAGATCCTGGCGAGTAGTAA	0.403000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								9	123					0	0	0.006214	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915833	39915833	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:39915833G>T	ENST00000425673.1	+	17	4298	c.3973G>T	c.(3973-3975)Gcc>Tcc	p.A1325S	PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.A1354S|PLEKHG2_ENST00000378550.1_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1354	Poly-Pro.				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)			GCCAGCCAAGGCCCAGGTCCG	0.682000													5	13					0.00198382	0.00217308	0.001984	1	0
COL6A5	256076	broad.mit.edu	37	3	130159389	130159389	+	Silent	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:130159389T>A	ENST00000265379.6	+	35	6701	c.6207T>A	c.(6205-6207)ctT>ctA	p.L2069L	COL6A5_ENST00000432398.2_Silent_p.L2069L			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2069	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTGAAAATCTTTTTCCAGAAA	0.393000													8	127					0	0	0.003080	0	0
BPNT1	10380	broad.mit.edu	37	1	220236273	220236273	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:220236273C>A	ENST00000469520.2	-	8	947	c.498G>T	c.(496-498)ggG>ggT	p.G166G	BPNT1_ENST00000414869.2_Silent_p.G130G|BPNT1_ENST00000322067.7_Silent_p.G166G|BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000544404.1_Silent_p.G111G|BPNT1_ENST00000354807.3_Silent_p.G181G			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	166					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		AGATTGTCCTCCCCAACACAG	0.448000													6	56					0.00307968	0.00335892	0.003080	1	0
PIGX	54965	broad.mit.edu	37	3	196454905	196454905	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:196454905G>A	ENST00000314118.4	+	4	589	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	PIGX_ENST00000421265.1_Missense_Mutation_p.A103T|PIGX_ENST00000541663.1_Missense_Mutation_p.A36T	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	144					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		CTGTTTTCAAGCCTTTTTGCC	0.438000													7	172					0	0	0.006214	0	0
KIAA1109	84162	broad.mit.edu	37	4	123159438	123159438	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:123159438G>T	ENST00000264501.4	+	28	4139	c.3766G>T	c.(3766-3768)Gtt>Ttt	p.V1256F	KIAA1109_ENST00000455637.1_Missense_Mutation_p.V1256F|KIAA1109_ENST00000388738.3_Missense_Mutation_p.V1256F|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1256					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCCTTCATCTGTTGCTGATGA	0.423000													9	191					5.68852e-11	8.68755e-11	0.004482	1	0
ZNF208	7757	broad.mit.edu	37	19	22155986	22155986	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:22155986G>T	ENST00000397126.4	-	4	1998	c.1850C>A	c.(1849-1851)aCc>aAc	p.T617N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTTACTAAAGGTTTTGCCACA	0.368000													6	119					3.59834e-05	4.34899e-05	0.001168	1	0
PIKFYVE	200576	broad.mit.edu	37	2	209191039	209191039	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:209191039C>T	ENST00000264380.4	+	20	3662	c.3504C>T	c.(3502-3504)gaC>gaT	p.D1168D		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1168					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AAAATTCAGACCCTTTTGCTC	0.473000													5	65					0	0	0.001168	0	0
FAM73A	374986	broad.mit.edu	37	1	78309084	78309084	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:78309084G>A	ENST00000370791.3	+	8	1020	c.988G>A	c.(988-990)Gca>Aca	p.A330T	FAM73A_ENST00000443751.2_Missense_Mutation_p.A292T	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	330						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CTTTGCTTCCGCAGCAGAGGT	0.413000													7	87					0	0	0.003080	0	0
NRXN1	9378	broad.mit.edu	37	2	50765408	50765408	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:50765408C>A	ENST00000404971.1	-	11	3585	c.2246G>T	c.(2245-2247)gGc>gTc	p.G749V	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.G701V|NRXN1_ENST00000406859.3_Missense_Mutation_p.G709V|NRXN1_ENST00000406316.2_Missense_Mutation_p.G709V|NRXN1_ENST00000401669.2_Missense_Mutation_p.G709V|NRXN1_ENST00000405472.3_Missense_Mutation_p.G701V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	709	Laminin G-like 4.				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)			ACAGGACCTGCCAAGATAGCC	0.468000													16	252					2.23348e-06	2.89917e-06	0.004007	1	0
KCNK1	3775	broad.mit.edu	37	1	233802359	233802359	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:233802359C>A	ENST00000366621.3	+	2	542	c.374C>A	c.(373-375)cCc>cAc	p.P125H	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.P9H	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	125						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CACACCGTGCCCTTGTCAGAT	0.512000													13	221					1.37285e-15	2.28447e-15	0.004007	1	0
CNTN2	6900	broad.mit.edu	37	1	205034237	205034237	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:205034237C>A	ENST00000331830.4	+	13	1826	c.1542C>A	c.(1540-1542)gcC>gcA	p.A514A		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	514	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCACTCTAGCCCCCTCAAGTG	0.607000													5	135					5.18039e-06	6.61561e-06	0.003080	1	0
WNT3A	89780	broad.mit.edu	37	1	228210456	228210456	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:228210456C>T	ENST00000284523.1	+	2	238	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	WNT3A_ENST00000366753.2_Missense_Mutation_p.R54C	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	54					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CAAGCAGCTCCGCTTCTGCAG	0.652000													5	44					0	0	0.001168	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125204434	125204434	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:125204434C>G	ENST00000431078.1	+	6	1202	c.838C>G	c.(838-840)Cag>Gag	p.Q280E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	280	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGTGGGCAAGCAGGTGAACTT	0.597000													11	132					0	0	0.013537	0	0
PLXNA4	91584	broad.mit.edu	37	7	131832667	131832667	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:131832667C>A	ENST00000359827.3	-	27	5818	c.4856G>T	c.(4855-4857)aGt>aTt	p.S1619I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1619I			Q9HCM2	PLXA4_HUMAN	plexin A4	1619						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACCATATTTACTTGCTGAGGT	0.547000													11	263					6.40141e-05	7.66349e-05	0.010729	1	0
BLZF1	8548	broad.mit.edu	37	1	169347577	169347577	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:169347577G>C	ENST00000367808.3	+	4	901	c.478G>C	c.(478-480)Gag>Cag	p.E160Q	BLZF1_ENST00000329281.2_Missense_Mutation_p.E160Q			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	160					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GGTAAATCGTGAGTTAAAAAA	0.343000													11	416					0	0	0.002450	0	0
FRAS1	80144	broad.mit.edu	37	4	79158662	79158662	+	Splice_Site	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:79158662A>G	ENST00000264895.6	+	3	548		c.e3-1		FRAS1_ENST00000264899.6_Splice_Site|FRAS1_ENST00000325942.6_Splice_Site	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1						cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCCTCTTTACAGGATGCCACA	0.453000													6	92					0	0	0.001168	0	0
LGR5	8549	broad.mit.edu	37	12	71928963	71928963	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:71928963C>T	ENST00000266674.5	+	4	736	c.425C>T	c.(424-426)tCc>tTc	p.S142F	LGR5_ENST00000540815.2_Missense_Mutation_p.S142F|LGR5_ENST00000536515.1_Missense_Mutation_p.S142F			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	142						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AGCCTTCAATCCCTGTAAGTA	0.348000													38	232					0	0	0.009718	0	0
PGC	5225	broad.mit.edu	37	6	41712155	41712155	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:41712155T>C	ENST00000373025.3	-	3	370	c.308A>G	c.(307-309)tAc>tGc	p.Y103C	PGC_ENST00000425343.2_Missense_Mutation_p.Y103C	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	103					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GCTCTGGCAGTAGACAGAGGG	0.607000													30	189					0	0	0.013726	0	0
APOB	338	broad.mit.edu	37	2	21263909	21263909	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:21263909C>A	ENST00000233242.1	-	4	411	c.284G>T	c.(283-285)aGc>aTc	p.S95I	APOB_ENST00000399256.4_Missense_Mutation_p.S95I	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	95	Heparin-binding.|Vitellogenin.				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)	GGTGCACTGGCTGGTCTTCAG	0.522000													5	31					0.000602214	0.000681538	0.000602	1	0
SETBP1	26040	broad.mit.edu	37	18	42530423	42530423	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:42530423C>G	ENST00000282030.5	+	4	1414	c.1118C>G	c.(1117-1119)tCc>tGc	p.S373C		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	373						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAAGGTTATTCCGCAGATAGT	0.468000									Schinzel-Giedion syndrome				9	218					0	0	0.004482	0	0
KCNA5	3741	broad.mit.edu	37	12	5153719	5153719	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:5153719G>T	ENST00000252321.3	+	1	635	c.406G>T	c.(406-408)Ggc>Tgc	p.G136C		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	136						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GACGCAGCTGGGCACCCTGGC	0.677000													8	34					0.000157383	0.000184735	0.003080	1	0
SIPA1L3	23094	broad.mit.edu	37	19	38631937	38631937	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:38631937G>T	ENST00000222345.6	+	11	3766	c.3257G>T	c.(3256-3258)gGg>gTg	p.G1086V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1086					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGTGGAGCGGGCCCGCATCC	0.647000													23	104					3.65163e-15	6.02877e-15	0.006320	1	0
CEP41	95681	broad.mit.edu	37	7	130044495	130044495	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:130044495C>T	ENST00000223208.4	-	6	602	c.332G>A	c.(331-333)gGg>gAg	p.G111E	CEP41_ENST00000541543.1_Missense_Mutation_p.G95E|CEP41_ENST00000343969.5_Missense_Mutation_p.G111E	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	111					G2/M transition of mitotic cell cycle	centrosome|cytosol											ATTTCCTTTCCCATTGGTCCT	0.473000													24	299					0	0	0.003954	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215894	130215894	+	Splice_Site	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:130215894T>A	ENST00000276211.5	+	2	598		c.e2+2		ARHGAP36_ENST00000370922.1_Splice_Site	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTGACAGAGGTAAGCTGTACC	0.602000													15	96					0	0	0.003163	0	0
TJP2	9414	broad.mit.edu	37	9	71861604	71861604	+	Splice_Site	SNP	A	A	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr9:71861604A>C	ENST00000377245.4	+	18	2774		c.e18-1		TJP2_ENST00000265384.7_Splice_Site|TJP2_ENST00000453658.2_Splice_Site|TJP2_ENST00000539225.1_Splice_Site|TJP2_ENST00000535702.1_Splice_Site|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000348208.4_Splice_Site	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2						cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ATATTTCTATAGCTACAATCA	0.363000													5	136					0	0	0.000602	0	0
CEP128	145508	broad.mit.edu	37	14	81366344	81366344	+	Missense_Mutation	SNP	G	G	C	rs149756244	byFrequency	TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:81366344G>C	ENST00000555265.1	-	7	885	c.510C>G	c.(508-510)gaC>gaG	p.D170E	CEP128_ENST00000281129.3_Missense_Mutation_p.D170E|CEP128_ENST00000327841.2_Missense_Mutation_p.D110E|CEP128_ENST00000216517.6_Missense_Mutation_p.D170E			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	170						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CACTGCTGAGGTCTCGAAGAG	0.413000													3	197					0	0	0.001168	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580003	140580003	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:140580003C>T	ENST00000354757.3	+	1	656	c.656C>T	c.(655-657)tCc>tTc	p.S219F	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		219	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATGGTGGGTCCCCTCCCAGG	0.517000													8	113					0	0	0.006214	0	0
BTBD9	114781	broad.mit.edu	37	6	38560388	38560388	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:38560388T>A	ENST00000481247.1	-	4	929	c.778A>T	c.(778-780)Agc>Tgc	p.S260C	BTBD9_ENST00000314100.6_Missense_Mutation_p.S192C|BTBD9_ENST00000403056.1_Missense_Mutation_p.S260C|BTBD9_ENST00000408958.1_Missense_Mutation_p.S192C|BTBD9_ENST00000419706.2_Missense_Mutation_p.S201C	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	260					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						ATATCCCGGCTCTCAGATCGC	0.473000													5	229					0	0	0.003080	0	0
CDH23	64072	broad.mit.edu	37	10	73550110	73550110	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:73550110G>T	ENST00000224721.6	+	45	6009	c.6004G>T	c.(6004-6006)Gtg>Ttg	p.V2002L		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1997	Cadherin 19.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CATCTACGCCGTGGTGACCTA	0.617000													3	27					0.004672	0.00503047	0.004672	1	0
LAMA1	284217	broad.mit.edu	37	18	7044726	7044726	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:7044726C>A	ENST00000389658.3	-	7	1064	c.971G>T	c.(970-972)tGt>tTt	p.C324F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	324	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGACCTTCACATGTATTGCC	0.468000													23	244					1.5548e-18	2.66809e-18	0.005443	1	0
NR1I3	9970	broad.mit.edu	37	1	161200604	161200604	+	Missense_Mutation	SNP	G	G	C	rs143583938		TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:161200604G>C	ENST00000506209.1	-	7	971	c.829C>G	c.(829-831)Cgg>Ggg	p.R277G	NR1I3_ENST00000505005.1_Splice_Site_p.R267_splice|NR1I3_ENST00000367980.2_Splice_Site_p.R315_splice|NR1I3_ENST00000502985.1_3'UTR|NR1I3_ENST00000367984.4_Splice_Site_p.R267_splice|NR1I3_ENST00000504010.1_Splice_Site_p.R238_splice|NR1I3_ENST00000508387.1_3'UTR|NR1I3_ENST00000512372.1_Splice_Site_p.R238_splice|NR1I3_ENST00000511676.1_Splice_Site_p.R277_splice|NR1I3_ENST00000367979.2_Splice_Site_p.R315_splice|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000442691.2_Splice_Site_p.R310_splice|NR1I3_ENST00000412844.2_Splice_Site_p.R286_splice|NR1I3_ENST00000428574.2_Splice_Site_p.R311_splice|NR1I3_ENST00000367982.4_Splice_Site_p.R310_splice|NR1I3_ENST00000515621.1_Splice_Site_p.R231_splice|NR1I3_ENST00000367981.3_Splice_Site_p.R282_splice|NR1I3_ENST00000367985.3_Splice_Site_p.R272_splice|NR1I3_ENST00000511944.1_3'UTR|NR1I3_ENST00000511748.1_3'UTR|NR1I3_ENST00000437437.2_Splice_Site_p.R277_splice|NR1I3_ENST00000508740.1_Splice_Site_p.R282_splice|NR1I3_ENST00000367983.4_Splice_Site_p.R306_splice			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	310					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCACCGTACCGATCCCGGGGC	0.542000													4	209					0	0	0.009096	0	0
OR5D18	219438	broad.mit.edu	37	11	55587737	55587737	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:55587737C>A	ENST00000333976.4	+	1	652	c.632C>A	c.(631-633)aCa>aAa	p.T211K		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GAAATCAGCACACTACTCATC	0.468000													14	308					9.31168e-06	1.18079e-05	0.001855	1	0
LINC01317	104355287	broad.mit.edu	37	2	33952672	33952672	+	RNA	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:33952672G>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							TGGCGTGGTCGCGGGAACGGC	0.642000													5	34					2.0095e-06	2.6219e-06	0.001984	1	0
SYNE2	23224	broad.mit.edu	37	14	64691223	64691223	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:64691223G>T	ENST00000357395.3	+	114	20657	c.9513G>T	c.(9511-9513)ggG>ggT	p.G3171G	SYNE2_ENST00000555002.1_Silent_p.G3443G|SYNE2_ENST00000458046.2_Silent_p.G457G|SYNE2_ENST00000554584.1_Silent_p.G6702G|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.G3171G|SYNE2_ENST00000358025.3_Silent_p.G6809G|SYNE2_ENST00000555022.1_Silent_p.G664G|SYNE2_ENST00000344113.4_Silent_p.G6786G|SYNE2_ENST00000441438.2_Silent_p.G331G|SYNE2_ENST00000554805.1_Silent_p.G569G			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6786					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAGACTCGGGGGACCAGCCTC	0.507000													7	171					2.17888e-05	2.6848e-05	0.006214	1	0
ZNF462	58499	broad.mit.edu	37	9	109771835	109771835	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr9:109771835G>T	ENST00000277225.5	+	12	7488	c.7199G>T	c.(7198-7200)aGa>aTa	p.R2400I	ZNF462_ENST00000542028.1_Missense_Mutation_p.R357I|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2460I|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000441147.2_Missense_Mutation_p.R1306I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2400					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GAGCTGATGAGATTTTCTGAC	0.478000													5	65					0.000602214	0.000681538	0.000602	1	0
OR5J2	282775	broad.mit.edu	37	11	55944560	55944560	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:55944560C>A	ENST00000312298.1	+	1	467	c.467C>A	c.(466-468)aCa>aAa	p.T156K		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATAGTTAACACATTAATCCAC	0.438000													17	125					1.15919e-05	1.46259e-05	0.008871	1	0
CLSPN	63967	broad.mit.edu	37	1	36226707	36226707	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:36226707C>A	ENST00000251195.5	-	7	1090	c.994G>T	c.(994-996)Gca>Tca	p.A332S	CLSPN_ENST00000373220.3_Missense_Mutation_p.A332S|CLSPN_ENST00000520551.1_Missense_Mutation_p.A332S|CLSPN_ENST00000318121.3_Missense_Mutation_p.A332S			Q9HAW4	CLSPN_HUMAN	claspin	332					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTCAATAGTGCCATGGCATTT	0.388000													6	115					0.00307968	0.00335892	0.003080	1	0
MYF6	4618	broad.mit.edu	37	12	81102623	81102623	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:81102623G>A	ENST00000228641.3	+	3	835	c.613G>A	c.(613-615)Gga>Aga	p.G205R		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	205					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TCGCTCAGGAGGAGCAAGTAT	0.557000													7	140					0	0	0.004482	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668472	176668472	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:176668472C>A	ENST00000367662.3	+	8	4147	c.2983C>A	c.(2983-2985)Cac>Aac	p.H995N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	995					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAGTCAGTGCACCTGGGCCC	0.537000													54	1085					7.88023e-25	1.38232e-24	0.014410	1	0
PNPT1	87178	broad.mit.edu	37	2	55920933	55920933	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:55920933G>C	ENST00000447944.2	-	1	112	c.26C>G	c.(25-27)tCg>tGg	p.S9W		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	9					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCGGAGGCACGAGCAGCAGTA	0.667000													4	34					0	0	0.003080	0	0
GPR85	54329	broad.mit.edu	37	7	112724234	112724234	+	Silent	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:112724234A>T	ENST00000501255.2	-	3	1166	c.543T>A	c.(541-543)gcT>gcA	p.A181A	GPR85_ENST00000297146.2_Silent_p.A181A|GPR85_ENST00000449591.1_Silent_p.A181A|GPR85_ENST00000424100.1_Silent_p.A181A	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	181						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						AGGAATCATTAGCCCTGAAGG	0.473000													8	151					0	0	0.008291	0	0
JMJD1C	221037	broad.mit.edu	37	10	64952903	64952903	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:64952903C>A	ENST00000399262.2	-	16	6089	c.5871G>T	c.(5869-5871)caG>caT	p.Q1957H	JMJD1C_ENST00000402544.1_Intron|JMJD1C_ENST00000542921.1_Missense_Mutation_p.Q1775H|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1957					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TAAGAACATTCTGTAAAACCT	0.343000													8	61					0.000274275	0.000316645	0.004482	1	0
NYNRIN	57523	broad.mit.edu	37	14	24878209	24878209	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:24878209G>A	ENST00000382554.3	+	4	1527	c.1209G>A	c.(1207-1209)aaG>aaA	p.K403K		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	403					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TTCAGTTGAAGCTGCCAGGGC	0.562000													4	35					0	0	0.000602	0	0
SLC35F1	222553	broad.mit.edu	37	6	118475692	118475692	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:118475692A>C	ENST00000360388.4	+	2	459	c.258A>C	c.(256-258)gaA>gaC	p.E86D		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	86					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		ATCTGTCAGAAGATTTCCACG	0.448000													8	300					0	0	0.004482	0	0
GAD2	2572	broad.mit.edu	37	10	26508113	26508113	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:26508113A>T	ENST00000376261.3	+	4	931	c.428A>T	c.(427-429)cAa>cTa	p.Q143L	GAD2_ENST00000376248.1_Missense_Mutation_p.Q29L|GAD2_ENST00000259271.3_Missense_Mutation_p.Q143L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	143					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GAGCTTCTCCAAGAATATAAT	0.333000													16	98					0	0	0.006122	0	0
HOOK3	84376	broad.mit.edu	37	8	42828543	42828543	+	Splice_Site	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:42828543G>T	ENST00000307602.4	+	12	1433		c.e12+1			NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3						cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AGAAAAGGACGTGAGTATATA	0.299000			T	RET	papillary thyroid								8	36					5.18039e-06	6.61561e-06	0.003080	1	0
SLC13A1	6561	broad.mit.edu	37	7	122811842	122811842	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:122811842C>A	ENST00000194130.2	-	3	384	c.345G>T	c.(343-345)atG>atT	p.M115I	SLC13A1_ENST00000539873.1_Missense_Mutation_p.M51I	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	115						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTACACCAACCATCATCACCA	0.358000													26	799					1.88708e-17	3.20348e-17	0.008361	1	0
TENM3	55714	broad.mit.edu	37	4	183245292	183245292	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:183245292C>A	ENST00000511685.1	+	2	242	c.119C>A	c.(118-120)tCc>tAc	p.S40Y	TENM3_ENST00000406950.2_Missense_Mutation_p.S40Y					teneurin transmembrane protein 3																		ACACAGAAGTCCTACAGTTCC	0.522000													6	109					3.59834e-05	4.34899e-05	0.001168	1	0
SEMA5A	9037	broad.mit.edu	37	5	9227081	9227081	+	Splice_Site	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:9227081T>A	ENST00000382496.5	-	7	999		c.e7-2			NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A						cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ACATTCCTCCTGAGGGaaaat	0.413000													32	122					0	0	0.013726	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66519048	66519048	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:66519048C>T	ENST00000589228.1	+	3	457	c.329C>T	c.(328-330)gCg>gTg	p.A110V	PRKAR1A_ENST00000586397.1_Missense_Mutation_p.A110V|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.A110V|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.A110V|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.A110V|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.A110V	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	110	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	p.A110V(1)		adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GAGGAAGATGCGGCATCCTAT	0.488000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				4	110					0	0	0.000602	0	0
KCNIP1	30820	broad.mit.edu	37	5	169931589	169931589	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:169931589A>T	ENST00000328939.4	+	1	550	c.13A>T	c.(13-15)Atg>Ttg	p.M5L	KCNIP1_ENST00000390656.4_Missense_Mutation_p.M5L|KCNIP1_ENST00000520740.1_De_novo_Start_InFrame|KCNIP1_ENST00000434108.1_Missense_Mutation_p.M5L|KCNIP1_ENST00000411494.1_Missense_Mutation_p.M5L|KCNIP1_ENST00000377360.4_Intron	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	5					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGGGCCGTCATGGGCACCTT	0.592000													9	108					0	0	0.010729	0	0
OR4K1	79544	broad.mit.edu	37	14	20404642	20404642	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:20404642G>C	ENST00000285600.4	+	1	876	c.817G>C	c.(817-819)Gtg>Ctg	p.V273L		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATTTCTTTCTGTGTTCTACAC	0.418000													10	237					0	0	0.013537	0	0
OR14C36	127066	broad.mit.edu	37	1	248512941	248512941	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:248512941A>T	ENST00000317861.1	+	1	865	c.865A>T	c.(865-867)Agt>Tgt	p.S289C		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TATTATTTACAGTCTTAGAAA	0.418000													32	221					0	0	0.009535	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766144	77766144	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:77766144G>T	ENST00000521891.2	+	10	7435	c.6987G>T	c.(6985-6987)acG>acT	p.T2329T	ZFHX4_ENST00000518282.1_Silent_p.T2303T|ZFHX4_ENST00000455469.2_Silent_p.T2284T|ZFHX4_ENST00000050961.6_Silent_p.T2284T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2284						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTTGATTACGCATCAGAAAA	0.418000										HNSCC(33;0.089)			10	299					2.17888e-05	2.6848e-05	0.006214	1	0
SNAPC1	6617	broad.mit.edu	37	14	62259597	62259597	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:62259597A>T	ENST00000216294.4	+	9	1153	c.1049A>T	c.(1048-1050)gAg>gTg	p.E350V		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	350	Poly-Glu.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		GAAGAAGAAGAGAATGAAAGT	0.328000													7	318					0	0	0.008291	0	0
CRYZ	1429	broad.mit.edu	37	1	75175924	75175924	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:75175924A>T	ENST00000417775.1	-	7	992	c.488T>A	c.(487-489)tTa>tAa	p.L163*	CRYZ_ENST00000340866.5_Nonsense_Mutation_p.L163*|CRYZ_ENST00000370872.3_Nonsense_Mutation_p.L26*|CRYZ_ENST00000370871.3_Nonsense_Mutation_p.L163*	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	163					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	GCATGCTGCTAATCCAACCTG	0.373000													23	282					0	0	0.007291	0	0
THBD	7056	broad.mit.edu	37	20	23028784	23028784	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:23028784C>A	ENST00000377103.2	-	1	1594	c.1358G>T	c.(1357-1359)gGg>gTg	p.G453V		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	453	EGF-like 6; calcium-binding (Potential).				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	GTGGCACACCCCGGAGCAGAA	0.632000													4	42					0.00024832	0.000289592	0.009096	1	0
DCTD	1635	broad.mit.edu	37	4	183815714	183815714	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:183815714C>A	ENST00000438320.2	-	4	579	c.289G>T	c.(289-291)Gat>Tat	p.D97Y	DCTD_ENST00000357067.3_Missense_Mutation_p.D108Y|DCTD_ENST00000510370.1_Missense_Mutation_p.D97Y	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	97					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		CCTTTCACATCGGTCGAATTT	0.443000													10	145					3.86212e-05	4.64558e-05	0.008291	1	0
ZNF92	168374	broad.mit.edu	37	7	64864480	64864480	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:64864480G>C	ENST00000328747.7	+	4	1652	c.1453G>C	c.(1453-1455)Gaa>Caa	p.E485Q	ZNF92_ENST00000450302.2_Missense_Mutation_p.E416Q|ZNF92_ENST00000357512.2_Missense_Mutation_p.E453Q|ZNF92_ENST00000431504.1_Missense_Mutation_p.E409Q	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	485						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				CAAATGTGAAGAATGTGGCAA	0.338000													3	63					0	0	0.004672	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363651	21363651	+	RNA	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr22:21363651C>T	ENST00000452284.1	+	0	1318				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						CACCGAGAGCCGCTTCATGAG	0.592000													6	108					0	0	0.001168	0	0
ANK2	287	broad.mit.edu	37	4	114280094	114280094	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:114280094C>T	ENST00000357077.4	+	38	10373	c.10320C>T	c.(10318-10320)tcC>tcT	p.S3440S	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.S3407S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3407					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TACTTACATCCCGATTGCCAG	0.478000													8	209					0	0	0.003080	0	0
BTNL8	79908	broad.mit.edu	37	5	180335744	180335744	+	Missense_Mutation	SNP	G	G	A	rs139672035		TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:180335744G>A	ENST00000231229.4	+	2	442	c.208G>A	c.(208-210)Ggg>Agg	p.G70R	BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Missense_Mutation_p.G70R|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.G70R	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	70	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTACAGGGACGGGAAGGACCA	0.532000													5	228					0	0	0.001984	0	0
SLC14A2	8170	broad.mit.edu	37	18	43248402	43248402	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:43248402T>A	ENST00000255226.6	+	15	2812	c.1996T>A	c.(1996-1998)Tgg>Agg	p.W666R	SLC14A2_ENST00000586448.1_Missense_Mutation_p.W666R|SLC14A2_ENST00000589658.1_Missense_Mutation_p.W143R	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	666						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGACTACTACTGGTGGCTGTT	0.527000													5	73					0	0	0.001984	0	0
TDRD5	163589	broad.mit.edu	37	1	179620108	179620108	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:179620108T>A	ENST00000444136.1	+	12	2157	c.1907T>A	c.(1906-1908)tTg>tAg	p.L636*	TDRD5_ENST00000294848.8_Nonsense_Mutation_p.L636*|TDRD5_ENST00000367614.1_Nonsense_Mutation_p.L636*	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	636					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AACATTTTTTTGTGTGACACA	0.413000													27	562					0	0	0.007291	0	0
DOCK4	9732	broad.mit.edu	37	7	111387424	111387424	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:111387424G>T	ENST00000428084.1	-	43	4764	c.4492C>A	c.(4492-4494)Cag>Aag	p.Q1498K	DOCK4_ENST00000494651.2_Missense_Mutation_p.Q372K|DOCK4_ENST00000437633.1_Missense_Mutation_p.Q1489K			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1489	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTCTGACACTGACTAATCAGA	0.393000													10	31					2.80697e-09	4.09851e-09	0.010729	1	0
HDAC9	9734	broad.mit.edu	37	7	18535893	18535893	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:18535893G>T	ENST00000406072.1	+	1	104	c.52G>T	c.(52-54)Gct>Tct	p.A18S	HDAC9_ENST00000401921.1_5'UTR|HDAC9_ENST00000417496.2_Missense_Mutation_p.A32S|HDAC9_ENST00000428307.2_5'UTR|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000405010.3_5'UTR|HDAC9_ENST00000406451.3_5'UTR			Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	0					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGATGGGGTGGCTGGACGAGA	0.458000													5	126					0.000602214	0.000681538	0.000602	1	0
RELN	5649	broad.mit.edu	37	7	103191701	103191701	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:103191701C>G	ENST00000424685.2	-	41	6274	c.6115G>C	c.(6115-6117)Gtg>Ctg	p.V2039L	RELN_ENST00000428762.1_Missense_Mutation_p.V2039L|RELN_ENST00000343529.5_Missense_Mutation_p.V2039L			P78509	RELN_HUMAN	reelin	2039					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCAGTCTCACTGGATCCGCG	0.507000													4	67					0	0	0.009096	0	0
EGLN3	112399	broad.mit.edu	37	14	34400394	34400394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:34400394C>A	ENST00000250457.3	-	2	713	c.385G>T	c.(385-387)Gga>Tga	p.G129*	EGLN3_ENST00000553215.1_Nonsense_Mutation_p.G35*	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	129	Fe2OG dioxygenase.				apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	TAACCTGTTCCATTTCCCGGA	0.488000													21	120					1.85244e-09	2.73641e-09	0.003330	1	0
GPATCH2	55105	broad.mit.edu	37	1	217665055	217665055	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:217665055T>G	ENST00000366935.3	-	8	1354	c.1244A>C	c.(1243-1245)cAc>cCc	p.H415P	GPATCH2_ENST00000489246.2_5'UTR	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	415						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		ATTTTTCTTGTGTCCTCTTTC	0.313000													9	193					0	0	0.010729	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84706472	84706472	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:84706472C>A	ENST00000286744.5	+	30	5214	c.4990C>A	c.(4990-4992)Cac>Aac	p.H1664N	ADAMTSL3_ENST00000567476.1_Intron	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1664	PLAC.					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)			AGACACAACTCACTACTGTAT	0.358000													19	344					1.96895e-08	2.80359e-08	0.002780	1	0
FLNC	2318	broad.mit.edu	37	7	128492680	128492680	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:128492680G>T	ENST00000325888.8	+	36	6139	c.5878G>T	c.(5878-5880)Ggc>Tgc	p.G1960C	FLNC_ENST00000346177.6_Missense_Mutation_p.G1927C|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1960					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCTGAATGTGGGCACCTCCAC	0.632000													7	59					8.12818e-05	9.6303e-05	0.001984	1	0
CYP7A1	1581	broad.mit.edu	37	8	59410854	59410854	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:59410854G>T	ENST00000301645.3	-	2	392	c.255C>A	c.(253-255)taC>taA	p.Y85*		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	85					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ACACCTTATGGTATGACAAGG	0.353000									Neonatal Giant Cell Hepatitis				14	292					1.05317e-09	1.55938e-09	0.002450	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125204414	125204414	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:125204414T>A	ENST00000431078.1	+	6	1182	c.818T>A	c.(817-819)cTc>cAc	p.L273H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	273	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CACTCGGTCCTCATTGAGCGG	0.602000													7	124					0	0	0.004482	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416300	57416300	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:57416300G>A	ENST00000565912.1	+	2	3142	c.436G>A	c.(436-438)Gag>Aag	p.E146K	CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000563383.1_Missense_Mutation_p.E190K|CX3CL1_ENST00000006053.6_Missense_Mutation_p.E184K			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	184	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TGTGGGCACGGAGCTTTTCCG	0.677000													7	82					0	0	0.003080	0	0
EPHA3	2042	broad.mit.edu	37	3	89468469	89468469	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:89468469T>A	ENST00000336596.2	+	11	2228	c.2003T>A	c.(2002-2004)cTg>cAg	p.L668Q	EPHA3_ENST00000494014.1_Missense_Mutation_p.L668Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	668	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGAGACTTCCTGGGAGAAGCA	0.428000										TSP Lung(6;0.00050)			7	169					0	0	0.004482	0	0
POLA1	5422	broad.mit.edu	37	X	24859838	24859838	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:24859838G>A	ENST00000379068.3	+	33	3849	c.3806G>A	c.(3805-3807)gGc>gAc	p.G1269D	POLA1_ENST00000379059.3_Missense_Mutation_p.G1263D			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1263					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	CTACTTGGTGGCCCAGCACAG	0.368000													20	37					0	0	0.007413	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783487	140783487	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:140783487A>G	ENST00000573521.1	+	1	968	c.968A>G	c.(967-969)gAt>gGt	p.D323G	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCTGAAGATGGTGGGGGA	0.383000													9	145					0	0	0.010729	0	0
MACC1	346389	broad.mit.edu	37	7	20198295	20198295	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:20198295T>G	ENST00000400331.5	-	5	1997	c.1689A>C	c.(1687-1689)caA>caC	p.Q563H	MACC1_ENST00000589011.1_Missense_Mutation_p.Q563H|MACC1_ENST00000332878.4_Missense_Mutation_p.Q563H	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	563	SH3.				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CAATCTTGCTTTGTCTTAGCA	0.373000													18	323					0	0	0.006122	0	0
DNAH3	55567	broad.mit.edu	37	16	20996668	20996668	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:20996668C>T	ENST00000261383.3	-	48	7395	c.7396G>A	c.(7396-7398)Ggc>Agc	p.G2466S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2466	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAGTCATTGCCTGCGTAGTTC	0.537000													10	41					0	0	0.008291	0	0
TRBJ2-2	28628	broad.mit.edu	37	7	142494294	142494294	+	RNA	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:142494294G>T	ENST00000390413.1	+	0	51																											GACCGTACTGGGTAAGGAGGC	0.667000													6	54					8.12818e-05	9.6303e-05	0.001984	1	0
NBPF10	100132406	broad.mit.edu	37	1	145324364	145324364	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:145324364C>G	ENST00000342960.5	+	28	3594	c.3559C>G	c.(3559-3561)Ctg>Gtg	p.L1187V	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1187										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAGGGAGCTGCTGGAGGTAGT	0.502000													6	40					0	0	0.003080	0	0
PROM1	8842	broad.mit.edu	37	4	16034984	16034984	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:16034984C>A	ENST00000505450.1	-	4	1037	c.425G>T	c.(424-426)gGg>gTg	p.G142V	PROM1_ENST00000447510.2_Missense_Mutation_p.G151V|PROM1_ENST00000510224.1_Missense_Mutation_p.G151V|PROM1_ENST00000540805.1_Missense_Mutation_p.G151V|PROM1_ENST00000543373.1_Missense_Mutation_p.G142V|PROM1_ENST00000539194.1_Missense_Mutation_p.G151V|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000508167.1_Missense_Mutation_p.G142V	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	151					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						CAGGAAGGGCCCATTTTCCTT	0.408000													8	84					0.00448238	0.00485111	0.004482	1	0
ZNF333	84449	broad.mit.edu	37	19	14830005	14830005	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:14830005G>A	ENST00000292530.6	+	12	1957	c.1866G>A	c.(1864-1866)caG>caA	p.Q622Q	ZNF333_ENST00000536363.1_Silent_p.Q513Q|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	622					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						AATGTAATCAGTGTGAGAAAG	0.493000													41	386					0	0	0.010771	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169165	32169165	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:32169165C>A	ENST00000375023.3	-	22	4006	c.3868G>T	c.(3868-3870)Gac>Tac	p.D1290Y		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1290					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CACTCTGGGTCCCCATCTTCA	0.632000													22	57					1.50039e-11	2.3395e-11	0.012319	1	0
EML1	2009	broad.mit.edu	37	14	100367277	100367277	+	Silent	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:100367277A>T	ENST00000262233.6	+	9	1048	c.909A>T	c.(907-909)ccA>ccT	p.P303P	EML1_ENST00000334192.4_Silent_p.P322P|EML1_ENST00000327921.9_Silent_p.P291P	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	303						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AATTGCCCCCACATGTGCGCA	0.423000													19	201					0	0	0.012319	0	0
KCNK1	3775	broad.mit.edu	37	1	233802735	233802735	+	Splice_Site	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:233802735G>A	ENST00000366621.3	+	2	918	c.751_splice	c.e2+1	p.T250_splice	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Splice_Site_p.T134_splice	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	250						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TTGGGATCACGTGTGAGTATT	0.413000													17	176					0	0	0.007413	0	0
ATN1	1822	broad.mit.edu	37	12	7048049	7048049	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:7048049G>T	ENST00000356654.4	+	7	3160	c.2923G>T	c.(2923-2925)Ggg>Tgg	p.G975W	ATN1_ENST00000396684.2_Missense_Mutation_p.G975W	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	975					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TCCCCGACATGGGGGCCTGGC	0.667000													5	110					0.000602214	0.000681538	0.000602	1	0
SNTG2	54221	broad.mit.edu	37	2	1093880	1093880	+	Splice_Site	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:1093880A>T	ENST00000308624.5	+	3	339		c.e3-1		SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2						central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain 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)		AATGTTTTAAAGCGCAGAACT	0.348000													8	201					0	0	0.006214	0	0
ACSM5	54988	broad.mit.edu	37	16	20439154	20439154	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:20439154C>T	ENST00000331849.4	+	7	1113	c.966C>T	c.(964-966)acC>acT	p.T322T		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	322					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GTGTCCCAACCATCTTTCGGC	0.473000													62	740					0	0	0.014410	0	0
BAGE2	85319	broad.mit.edu	37	21	11038994	11038994	+	RNA	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr21:11038994C>A	ENST00000470054.1	-	0	1209									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGATTTGCCTCCTTGGTATGA	0.393000													17	1062					2.61681e-11	4.07024e-11	0.002450	1	0
SLC7A14	57709	broad.mit.edu	37	3	170198380	170198380	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:170198380G>T	ENST00000231706.4	-	7	2006	c.1691C>A	c.(1690-1692)aCg>aAg	p.T564K	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	564						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GATGGTCACCGTGTGCCCCGT	0.532000													6	90					8.12818e-05	9.6303e-05	0.001984	1	0
FRAS1	80144	broad.mit.edu	37	4	79204011	79204011	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:79204011G>T	ENST00000264895.6	+	12	1585	c.1145G>T	c.(1144-1146)tGt>tTt	p.C382F	FRAS1_ENST00000264899.6_Missense_Mutation_p.C382F|FRAS1_ENST00000325942.6_Missense_Mutation_p.C382F	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	382	VWFC 6.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.C382F(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCAAGGTGTGTGAGTGCCGA	0.537000													10	154					1.5842e-08	2.27369e-08	0.001855	1	0
BMP5	653	broad.mit.edu	37	6	55625269	55625269	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:55625269C>G	ENST00000370830.3	-	5	1788	c.1090G>C	c.(1090-1092)Gat>Cat	p.D364H	BMP5_ENST00000446683.2_Missense_Mutation_p.D364H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	364					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CATCCCAGATCCCGGAAGCTC	0.363000													8	293					0	0	0.010729	0	0
DEFB125	245938	broad.mit.edu	37	20	76964	76964	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:76964A>T	ENST00000382410.2	+	2	377	c.377A>T	c.(376-378)gAg>gTg	p.E126V		NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	126					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			CCACCATCTGAGGCCACTACT	0.428000													29	544					0	0	0.008361	0	0
TIPARP	25976	broad.mit.edu	37	3	156395640	156395640	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:156395640A>T	ENST00000461166.1	+	2	742	c.154A>T	c.(154-156)Acc>Tcc	p.T52S	TIPARP_ENST00000542783.1_Missense_Mutation_p.T52S|TIPARP_ENST00000486483.1_Missense_Mutation_p.T52S|TIPARP_ENST00000295924.7_Missense_Mutation_p.T52S	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	52							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GGGAACTGGAACCCTGAGGTC	0.408000													6	141					0	0	0.001984	0	0
DNAH7	56171	broad.mit.edu	37	2	196913108	196913108	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:196913108C>A	ENST00000312428.6	-	4	262	c.162G>T	c.(160-162)tgG>tgT	p.W54C	DNAH7_ENST00000410072.1_Missense_Mutation_p.W54C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	54	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGCCTGCTGCCAGTGGGGCT	0.363000													21	208					1.73308e-25	3.05284e-25	0.012319	1	0
BOD1L1	259282	broad.mit.edu	37	4	13602301	13602301	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:13602301T>C	ENST00000040738.5	-	10	6358	c.6223A>G	c.(6223-6225)Acc>Gcc	p.T2075A		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2075							DNA binding										GTGGTACTGGTGGAAATAATC	0.433000													7	76					0	0	0.001984	0	0
WDR7	23335	broad.mit.edu	37	18	54591321	54591321	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:54591321C>T	ENST00000254442.3	+	22	3906	c.3695C>T	c.(3694-3696)gCc>gTc	p.A1232V	WDR7_ENST00000357574.3_Missense_Mutation_p.A1199V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1232										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGTGCCGATGCCGAGAAACAA	0.433000													15	351					0	0	0.004007	0	0
RASSF4	83937	broad.mit.edu	37	10	45465690	45465690	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:45465690A>C	ENST00000334940.6	+	2	174	c.40A>C	c.(40-42)Agt>Cgt	p.S14R	RASSF4_ENST00000374417.2_Missense_Mutation_p.S14R|RASSF4_ENST00000340258.4_Missense_Mutation_p.S14R			Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	14					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CGTGCCCATCAGTGACAGCAA	0.532000													8	259					0	0	0.010729	0	0
KDM5A	5927	broad.mit.edu	37	12	432318	432318	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:432318C>A	ENST00000399788.2	-	16	2567	c.2205G>T	c.(2203-2205)agG>agT	p.R735S	KDM5A_ENST00000382815.4_Missense_Mutation_p.R735S	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	735					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGGACTGTGCCCTGACTTTTA	0.338000			T	NUP98	AML								15	127					3.41278e-10	5.1131e-10	0.004990	1	0
TENM2	57451	broad.mit.edu	37	5	167645245	167645245	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:167645245C>A	ENST00000519204.1	+	22	4104	c.3986C>A	c.(3985-3987)gCg>gAg	p.A1329E	TENM2_ENST00000403607.2_Missense_Mutation_p.A1274E|TENM2_ENST00000545108.1_Missense_Mutation_p.A1449E|TENM2_ENST00000518659.1_Missense_Mutation_p.A1450E|TENM2_ENST00000520394.1_Missense_Mutation_p.A1211E					teneurin transmembrane protein 2																		AGCATCATTGCGGGACGCCCC	0.502000													20	535					8.10497e-08	1.13237e-07	0.010504	1	0
MRGPRX4	117196	broad.mit.edu	37	11	18195302	18195302	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:18195302G>T	ENST00000314254.3	+	1	919	c.499G>T	c.(499-501)Ggt>Tgt	p.G167C	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	167						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCTGTTTAGTGGTGCTGATTC	0.532000													22	270					1.50039e-11	2.3395e-11	0.012319	1	0
CACNA1E	777	broad.mit.edu	37	1	181702695	181702695	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:181702695A>G	ENST00000526775.1	+	20	3179	c.3014A>G	c.(3013-3015)cAg>cGg	p.Q1005R	CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q975R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q1005R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.Q631R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.Q1024R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q956R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q1024R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1024					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						CTGACGGAGCAGGAGCCAGAA	0.647000													6	76					0	0	0.001168	0	0
TENM2	57451	broad.mit.edu	37	5	167645451	167645451	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:167645451G>C	ENST00000519204.1	+	22	4310	c.4192G>C	c.(4192-4194)Gac>Cac	p.D1398H	TENM2_ENST00000403607.2_Missense_Mutation_p.D1343H|TENM2_ENST00000545108.1_Missense_Mutation_p.D1518H|TENM2_ENST00000518659.1_Missense_Mutation_p.D1519H|TENM2_ENST00000520394.1_Missense_Mutation_p.D1280H					teneurin transmembrane protein 2																		GGCAGCCTCGGACTGCGACTG	0.502000													27	394					0	0	0.005443	0	0
PEG10	23089	broad.mit.edu	37	7	94293493	94293493	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:94293493G>T	ENST00000482108.1	+	2	1104	c.625G>T	c.(625-627)Ggc>Tgc	p.G209C	PEG10_ENST00000488574.1_Missense_Mutation_p.G209C	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	209	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTACCACGAGGGCCTCAGCGA	0.572000													12	213					9.05144e-12	1.43438e-11	0.001855	1	0
DNAH17	8632	broad.mit.edu	37	17	76565323	76565323	+	Silent	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:76565323G>C	ENST00000389840.5	-	9	1333	c.1209C>G	c.(1207-1209)ccC>ccG	p.P403P	DNAH17_ENST00000585328.1_Silent_p.P403P					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCCAAGGCACGGGCTCTTTGT	0.463000													3	6					0	0	0.009096	0	0
WASL	8976	broad.mit.edu	37	7	123334768	123334768	+	Splice_Site	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:123334768C>A	ENST00000223023.4	-	8	1159		c.e8+1			NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like						actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATAAAAGTTACCTTGCCTCCG	0.358000													28	133					1.50538e-07	2.08019e-07	0.006320	1	0
OR51B6	390058	broad.mit.edu	37	11	5373149	5373149	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:5373149C>A	ENST00000380219.1	+	1	412	c.412C>A	c.(412-414)Cag>Aag	p.Q138K	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACCAACACCCAGGTAATGAA	0.478000													15	270					0.000422831	0.000486815	0.004007	1	0
AHSG	197	broad.mit.edu	37	3	186338572	186338572	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:186338572C>T	ENST00000411641.2	+	7	1176	c.957C>T	c.(955-957)acC>acT	p.T319T	AHSG_ENST00000273784.5_Silent_p.T320T			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	319					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TGCGCCACACCTTCATGGGTG	0.627000													27	402					0	0	0.005443	0	0
IRF9	10379	broad.mit.edu	37	14	24633877	24633877	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:24633877A>G	ENST00000396864.3	+	7	991	c.704A>G	c.(703-705)cAg>cGg	p.Q235R	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Missense_Mutation_p.Q133R	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	235					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GGCGAGGCCCAGGTGCAAAGC	0.632000													18	459					0	0	0.010504	0	0
PRPF8	10594	broad.mit.edu	37	17	1583007	1583007	+	Silent	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:1583007T>A	ENST00000572621.1	-	8	1450	c.1185A>T	c.(1183-1185)acA>acT	p.T395T	PRPF8_ENST00000304992.6_Silent_p.T395T			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	395						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTGTATTGTCTGTATAGAGGG	0.567000													7	200					0	0	0.001984	0	0
GPRIN1	114787	broad.mit.edu	37	5	176024042	176024042	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:176024042C>G	ENST00000303991.4	-	2	2971	c.2794G>C	c.(2794-2796)Gag>Cag	p.E932Q		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	932	Interaction with GNAO1 (By similarity).					growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAGCACCTCCACCTCCATG	0.736000													3	71					0	0	0.000602	0	0
USP9X	8239	broad.mit.edu	37	X	41055569	41055569	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:41055569G>T	ENST00000324545.7	+	27	4676	c.4043G>T	c.(4042-4044)cGg>cTg	p.R1348L	USP9X_ENST00000378308.2_Missense_Mutation_p.R1348L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1348					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATGGGACACCGGCCTCTACTT	0.353000													8	175					1.61879e-10	2.44854e-10	0.013537	1	0
KCNU1	157855	broad.mit.edu	37	8	36793164	36793164	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:36793164T>G	ENST00000399881.3	+	27	3213	c.3176T>G	c.(3175-3177)gTa>gGa	p.V1059G		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1059						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TATGAAATTGTAAATAAAGCA	0.383000													24	259					0	0	0.003330	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891993	18891993	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:18891993G>A	ENST00000317658.3	+	1	949	c.791G>A	c.(790-792)cGc>cAc	p.R264H		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	264					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CCAGTGACCCGCACTCTTATT	0.413000													4	191					0	0	0.009096	0	0
TMEM168	64418	broad.mit.edu	37	7	112407372	112407372	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:112407372G>A	ENST00000312814.5	-	5	2534	c.1974C>T	c.(1972-1974)tgC>tgT	p.C658C	TMEM168_ENST00000454074.1_Silent_p.C658C	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	658						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GGTTCAGACCGCATAACCAAT	0.433000													5	178					0	0	0.001168	0	0
OR2M7	391196	broad.mit.edu	37	1	248487007	248487007	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:248487007G>A	ENST00000317965.2	-	1	892	c.864C>T	c.(862-864)ctC>ctT	p.L288L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCTATAAATGAGAGGATTCA	0.423000													4	110					0	0	0.009096	0	0
OR5M11	219487	broad.mit.edu	37	11	56310560	56310560	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:56310560G>T	ENST00000528616.2	-	1	197	c.174C>A	c.(172-174)ccC>ccA	p.P58P		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P58P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGAAGTACATGGGCGTGTGAA	0.453000													25	322					2.08457e-15	3.46422e-15	0.010818	1	0
MAMLD1	10046	broad.mit.edu	37	X	149639109	149639109	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:149639109G>T	ENST00000370401.2	+	4	1574	c.1264G>T	c.(1264-1266)Ggc>Tgc	p.G422C	MAMLD1_ENST00000432680.2_Missense_Mutation_p.G397C|MAMLD1_ENST00000262858.5_Missense_Mutation_p.G422C|MAMLD1_ENST00000426613.2_Missense_Mutation_p.G397C			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	422					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GCCGCAGTTCGGCCCTCAGAG	0.607000													14	159					4.93089e-13	7.95366e-13	0.002450	1	0
PZP	5858	broad.mit.edu	37	12	9356495	9356495	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:9356495C>T	ENST00000261336.2	-	2	164	c.136G>A	c.(136-138)Ggc>Agc	p.G46S		NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGGACACAGCCCTTCTTAGGG	0.517000													12	189					0	0	0.010729	0	0
BTBD9	114781	broad.mit.edu	37	6	38548125	38548125	+	Silent	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:38548125T>C	ENST00000481247.1	-	5	1054	c.903A>G	c.(901-903)caA>caG	p.Q301Q	BTBD9_ENST00000314100.6_Silent_p.Q233Q|BTBD9_ENST00000403056.1_Silent_p.Q301Q|BTBD9_ENST00000408958.1_Silent_p.Q233Q|BTBD9_ENST00000419706.2_Silent_p.Q242Q	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	301					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						AATCATAATTTTGAGTATCAC	0.403000													42	500					0	0	0.014410	0	0
COL3A1	1281	broad.mit.edu	37	2	189871662	189871662	+	Splice_Site	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:189871662G>T	ENST00000304636.3	+	44	3371		c.e44-1		COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTTCATCTTAGGGCCCTGCTG	0.368000													8	93					6.40141e-05	7.66349e-05	0.010729	1	0
TNC	3371	broad.mit.edu	37	9	117800547	117800547	+	Silent	SNP	G	G	T	rs146574339		TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr9:117800547G>T	ENST00000350763.4	-	20	5916	c.5505C>A	c.(5503-5505)ggC>ggA	p.G1835G	TNC_ENST00000340094.3_Silent_p.G1471G|TNC_ENST00000535648.1_Silent_p.G1380G|TNC_ENST00000423613.2_Silent_p.G1562G|TNC_ENST00000346706.3_Silent_p.G1289G|TNC_ENST00000341037.4_Silent_p.G1653G|TNC_ENST00000537320.1_Silent_p.G1198G|TNC_ENST00000345230.3_Silent_p.G1198G|TNC_ENST00000542877.1_Silent_p.G1472G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1835	Fibronectin type-III 14.				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						TACCTTTCTCGCCTGTGTAGG	0.517000													45	204					3.31993e-32	5.89742e-32	0.014410	1	0
MRE11A	4361	broad.mit.edu	37	11	94153343	94153343	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:94153343T>C	ENST00000323929.3	-	20	2297	c.2075A>G	c.(2074-2076)gAt>gGt	p.D692G	MRE11A_ENST00000407439.3_Missense_Mutation_p.D695G|MRE11A_ENST00000323977.3_Missense_Mutation_p.D664G|MRE11A_ENST00000393241.4_Missense_Mutation_p.D691G	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	692					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				ATCATCATCATCATCCTGAAA	0.328000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				4	92					0	0	0.009096	0	0
OR2T2	401992	broad.mit.edu	37	1	248616140	248616140	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:248616140C>A	ENST00000342927.3	+	1	64	c.42C>A	c.(40-42)gtC>gtA	p.V14V		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTAACTTCGTCCTCACAGGCC	0.507000													24	213					9.14704e-12	1.44771e-11	0.008740	1	0
RELN	5649	broad.mit.edu	37	7	103244875	103244875	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:103244875A>T	ENST00000424685.2	-	23	3223	c.3064T>A	c.(3064-3066)Tgg>Agg	p.W1022R	RELN_ENST00000428762.1_Missense_Mutation_p.W1022R|RELN_ENST00000343529.5_Missense_Mutation_p.W1022R			P78509	RELN_HUMAN	reelin	1022					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCAAAGCCCACTCGTCTTGA	0.502000													4	128					0	0	0.009096	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723221	58723221	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:58723221G>T	ENST00000300079.5	+	7	773	c.723G>T	c.(721-723)atG>atT	p.M241I	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.M210I	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	210						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CAGCCTGTATGCTCGGCCCAG	0.522000													6	113					4.3838e-07	5.96632e-07	0.001855	1	0
PCDHB11	56125	broad.mit.edu	37	5	140580647	140580647	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:140580647G>A	ENST00000354757.3	+	1	1300	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	PCDHB11_ENST00000536699.1_Missense_Mutation_p.E69K	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		434	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGAAAACCGAGCACAACAC	0.552000													10	155					0	0	0.006214	0	0
NOL4	8715	broad.mit.edu	37	18	31599554	31599554	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:31599554C>G	ENST00000261592.5	-	6	1081	c.784G>C	c.(784-786)Gca>Cca	p.A262P	NOL4_ENST00000589544.1_Missense_Mutation_p.A262P|NOL4_ENST00000538587.1_Missense_Mutation_p.A188P|NOL4_ENST00000535384.1_5'UTR|NOL4_ENST00000269185.4_Missense_Mutation_p.A148P|NOL4_ENST00000535475.1_Missense_Mutation_p.A107P	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	262						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AAGCTCTCTGCAGCAGAATCA	0.403000													5	123					0	0	0.000602	0	0
UROS	7390	broad.mit.edu	37	10	127505007	127505007	+	Splice_Site	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:127505007C>A	ENST00000368778.3	-	2	255	c.63_splice	c.e2+1	p.R21_splice	UROS_ENST00000368774.1_Splice_Site_p.R21_splice|UROS_ENST00000368797.4_Splice_Site_p.R21_splice|UROS_ENST00000368786.1_Splice_Site_p.R21_splice			P10746	HEM4_HUMAN	uroporphyrinogen III synthase	21					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				GCCACTTACCCTGATATACGG	0.512000													4	108					0.00116845	0.00129793	0.001168	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72190515	72190515	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:72190515C>T	ENST00000555818.1	+	16	4771	c.4423C>T	c.(4423-4425)Cct>Tct	p.P1475S	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P1454S|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.P929S|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P1454S|SIPA1L1_ENST00000554874.1_3'UTR	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1475	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAGTTTTTACCCTCGCCAGGG	0.507000													12	318					0	0	0.002450	0	0
NF1	4763	broad.mit.edu	37	17	29527470	29527470	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:29527470C>T	ENST00000358273.4	+	9	1302	c.919C>T	c.(919-921)Ctt>Ttt	p.L307F	NF1_ENST00000431387.4_Missense_Mutation_p.L307F|NF1_ENST00000356175.3_Missense_Mutation_p.L307F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	307					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACGAAAAGCTCTTGCTGGCCA	0.373000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			24	113					0	0	0.006320	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968734	4968734	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrY:4968734G>T	ENST00000333703.4	+	5	3595	c.3082G>T	c.(3082-3084)Gta>Tta	p.V1028L	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.V1039L|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.V1039L	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1039					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACCTGTGTCCGTACACACCAG	0.403000													8	74					3.09899e-07	4.24514e-07	0.004482	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125521289	125521289	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:125521289C>A	ENST00000431078.1	+	15	2636	c.2272C>A	c.(2272-2274)Cct>Act	p.P758T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	758	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGACCACTTGCCTGTCACTCA	0.403000													7	98					0.00198382	0.00217308	0.001984	1	0
FAM83B	222584	broad.mit.edu	37	6	54805191	54805191	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:54805191C>A	ENST00000306858.7	+	5	1538	c.1422C>A	c.(1420-1422)atC>atA	p.I474I		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	474										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATAACCATATCCGCTTTTTGC	0.408000													23	247					6.36457e-07	8.5881e-07	0.003954	1	0
DYRK4	8798	broad.mit.edu	37	12	4708299	4708299	+	Silent	SNP	G	G	T	rs138577409	byFrequency	TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:4708299G>T	ENST00000540757.2	+	7	826	c.666G>T	c.(664-666)tcG>tcT	p.S222S	DYRK4_ENST00000010132.5_Silent_p.S222S|DYRK4_ENST00000543431.1_Silent_p.S222S	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	222	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			AGATGCTTTCGGTAGAGAAAA	0.463000													10	183					0.00621372	0.0066734	0.006214	1	0
ZNF326	284695	broad.mit.edu	37	1	90482956	90482956	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:90482956A>G	ENST00000340281.4	+	8	1150	c.1007A>G	c.(1006-1008)cAt>cGt	p.H336R	ZNF326_ENST00000370447.2_Missense_Mutation_p.H247R|ZNF326_ENST00000455342.2_Missense_Mutation_p.H130R	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		AGTTCTTCACATCAGGAAACA	0.294000													8	163					0	0	0.003080	0	0
GJD2	57369	broad.mit.edu	37	15	35045189	35045189	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:35045189C>T	ENST00000290374.4	-	2	932	c.456G>A	c.(454-456)ggG>ggA	p.G152G		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	152					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TCTGCAGCACCCCATTCACAA	0.527000													12	321					0	0	0.001855	0	0
NTM	50863	broad.mit.edu	37	11	132177643	132177643	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:132177643C>A	ENST00000374786.1	+	4	1066	c.587C>A	c.(586-588)tCa>tAa	p.S196*	NTM_ENST00000374791.3_Nonsense_Mutation_p.S196*|NTM_ENST00000425719.2_Nonsense_Mutation_p.S196*|NTM_ENST00000539799.1_Nonsense_Mutation_p.S196*|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000427481.2_Nonsense_Mutation_p.S187*|NTM_ENST00000374784.1_Nonsense_Mutation_p.S196*	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	196	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGGGAGCAGTCAGGGGACTAC	0.552000													21	80					2.21704e-12	3.54894e-12	0.002780	1	0
EXO1	9156	broad.mit.edu	37	1	242020668	242020668	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:242020668G>T	ENST00000366548.3	+	7	1020	c.427G>T	c.(427-429)Gat>Tat	p.D143Y	EXO1_ENST00000348581.5_Missense_Mutation_p.D143Y|EXO1_ENST00000493702.1_3'UTR|EXO1_ENST00000518483.1_Missense_Mutation_p.D143Y	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	143	I-domain.|Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TCAGGGGGTAGATTGCCTCGT	0.488000								Editing and processing nucleases					22	224					1.64293e-13	2.674e-13	0.003330	1	0
IGLV4-3	28786	broad.mit.edu	37	22	23213934	23213934	+	RNA	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr22:23213934G>T	ENST00000390318.2	+	0	123																											GTCTGCATCTGCCTTGCTGGG	0.537000													4	151					0.00909568	0.0096699	0.009096	1	0
TINAG	27283	broad.mit.edu	37	6	54208149	54208149	+	Splice_Site	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:54208149T>A	ENST00000259782.4	+	5	844		c.e5+2			NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen						cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CCACTGCAAGTAATAAAGTCA	0.333000													19	108					0	0	0.012319	0	0
CAND2	23066	broad.mit.edu	37	3	12858463	12858463	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:12858463G>C	ENST00000456430.2	+	10	2073	c.2032G>C	c.(2032-2034)Gcc>Ccc	p.A678P	CAND2_ENST00000295989.5_Missense_Mutation_p.A585P	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	678					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGCCCTGGACGCCCTGGCCCA	0.667000													7	31					0	0	0.003080	0	0
ELMO1	9844	broad.mit.edu	37	7	37382322	37382322	+	Translation_Start_Site	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:37382322G>T	ENST00000310758.4	-	0	620				ELMO1_ENST00000448602.1_De_novo_Start_OutOfFrame|ELMO1_ENST00000442504.1_De_novo_Start_OutOfFrame	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1						actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTCAAAGCCAGTGGGAATGAG	0.512000													13	257					4.36969e-10	6.53127e-10	0.001855	1	0
GNG4	2786	broad.mit.edu	37	1	235747043	235747043	+	Silent	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:235747043G>C	ENST00000391854.2	-	3	549	c.96C>G	c.(94-96)gtC>gtG	p.V32V	GNG4_ENST00000450593.1_Silent_p.V32V|GNG4_ENST00000366598.4_Silent_p.V32V|GNG4_ENST00000484517.1_5'UTR|GNG4_ENST00000366597.1_Silent_p.V32V	NM_001098722.1|NM_004485.3	NP_001092192.1|NP_004476.1	P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein), gamma 4	32					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			TGCTTACCTTGACCCTGTCCA	0.517000													7	63					0	0	0.004482	0	0
DCTPP1	79077	broad.mit.edu	37	16	30435740	30435740	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:30435740G>A	ENST00000319285.4	-	3	421	c.327C>T	c.(325-327)cgC>cgT	p.R109R	DCTPP1_ENST00000568973.1_5'UTR|DCTPP1_ENST00000568434.1_5'UTR|DCTPP1_ENST00000567983.1_Silent_p.R10R|ZNF771_ENST00000566625.1_Intron|DCTPP1_ENST00000565758.1_5'UTR	NM_024096.1	NP_077001.1	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	109					nucleoside triphosphate catabolic process	cytosol	dCTP diphosphatase activity|identical protein binding|magnesium ion binding			kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						CCACACGGCAGCGGGCTGCTA	0.617000													9	83					0	0	0.006214	0	0
OR4B1	119765	broad.mit.edu	37	11	48238838	48238838	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:48238838C>T	ENST00000309562.2	+	1	495	c.477C>T	c.(475-477)ctC>ctT	p.L159L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TTCAGATTCTCGTTATCATCC	0.468000													17	307					0	0	0.007413	0	0
MYO10	4651	broad.mit.edu	37	5	16680173	16680173	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:16680173G>A	ENST00000513610.1	-	33	4879	c.4425C>T	c.(4423-4425)taC>taT	p.Y1475Y	MYO10_ENST00000505695.1_Silent_p.Y814Y|MYO10_ENST00000427430.2_Silent_p.Y832Y|MYO10_ENST00000274203.9_Silent_p.Y832Y|MYO10_ENST00000515803.1_Silent_p.Y814Y	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1475	PH 2.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGTAGAGCCGGTAACAGTGCT	0.627000													8	22					0	0	0.004482	0	0
ALG10B	144245	broad.mit.edu	37	12	38712250	38712250	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:38712250C>A	ENST00000308742.4	+	2	675	c.359C>A	c.(358-360)cCc>cAc	p.P120H	ALG10B_ENST00000551464.1_Missense_Mutation_p.P120H	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	120					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AAGGTACAACCCAGAAACAAG	0.338000													12	124					7.03913e-09	1.02071e-08	0.013537	1	0
MIR4485	100616263	broad.mit.edu	37	MT	2440	2440	+	RNA	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrM:2440G>C	ENST00000387347.2	+	0	770					NR_039705.1																						CAACACAGGCATGCTCATAAG	0.423000													2	2					0	0	0.004672	0	0
GLI2	2736	broad.mit.edu	37	2	121708950	121708950	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:121708950A>T	ENST00000452319.1	+	4	446	c.386A>T	c.(385-387)tAc>tTc	p.Y129F	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.Y129F			P10070	GLI2_HUMAN	GLI family zinc finger 2	129					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ATGGAGCACTACCTCCGTTCT	0.662000													3	21					0	0	0.009096	0	0
SEC16B	89866	broad.mit.edu	37	1	177909803	177909803	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:177909803C>T	ENST00000308284.6	-	17	2158	c.2069G>A	c.(2068-2070)cGc>cAc	p.R690H	RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	690					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GTCTCCACTGCGTCTTTCTAA	0.562000													4	51					0	0	0.000602	0	0
C6orf58	352999	broad.mit.edu	37	6	127898419	127898419	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:127898419C>A	ENST00000329722.7	+	1	101	c.89C>A	c.(88-90)cCc>cAc	p.P30H	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	30						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		GAGACAGAGCCCCCTCTGTGG	0.493000													8	114					0.000673444	0.000760787	0.008291	1	0
NXPE1	120400	broad.mit.edu	37	11	114401094	114401094	+	Silent	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:114401094G>C	ENST00000536312.1	-	6	1528	c.636C>G	c.(634-636)ggC>ggG	p.G212G	NXPE1_ENST00000251921.2_Silent_p.G70G|NXPE1_ENST00000424269.1_Silent_p.G212G					neurexophilin and PC-esterase domain family, member 1																		CATGAGAGGTGCCATTAACAA	0.458000													9	300					0	0	0.004482	0	0
GOLGA3	2802	broad.mit.edu	37	12	133381374	133381374	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:133381374C>T	ENST00000204726.3	-	7	2083	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	GOLGA3_ENST00000537452.1_Missense_Mutation_p.E509K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E509K|GOLGA3_ENST00000450791.2_Missense_Mutation_p.E509K|GOLGA3_ENST00000545875.1_Missense_Mutation_p.E509K	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	509					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TACTGCTCCTCGGCCACCTGC	0.607000													9	53					0	0	0.010729	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118404587	118404587	+	RNA	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:118404587G>C	ENST00000537242.1	+	0	1412				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AAAACGTCTTGCAATCTCTTT	0.408000													5	40					0	0	0.001984	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86491812	86491812	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:86491812T>G	ENST00000395184.1	+	2	584	c.118T>G	c.(118-120)Tgg>Ggg	p.W40G	ARHGAP24_ENST00000503995.1_Missense_Mutation_p.W40G|ARHGAP24_ENST00000506421.1_3'UTR	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	40	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GCATACTCGCTGGTTTGTGCT	0.498000													10	242					0	0	0.013537	0	0
SPEG	10290	broad.mit.edu	37	2	220342826	220342826	+	Splice_Site	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:220342826C>T	ENST00000312358.7	+	22	5158	c.5027_splice	c.e22+1	p.L1676_splice	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1676	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGTCACCGAGCTGTATCCTGG	0.572000													3	66					0	0	0.004672	0	0
NOL11	25926	broad.mit.edu	37	17	65734395	65734395	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:65734395G>C	ENST00000253247.4	+	14	1802	c.1687G>C	c.(1687-1689)Gag>Cag	p.E563Q	NOL11_ENST00000535137.1_Missense_Mutation_p.E381Q	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	563						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTGTGATCAAGAGTTAAATAA	0.378000													5	105					0	0	0.000602	0	0
MPZ	4359	broad.mit.edu	37	1	161279650	161279650	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:161279650C>A	ENST00000533357.1	-	1	112	c.46G>T	c.(46-48)Gtg>Ttg	p.V16L	MPZ_ENST00000336559.4_Missense_Mutation_p.V16L|MPZ_ENST00000360451.6_Missense_Mutation_p.V26L	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	16					synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAGAGCAGCACAGCCAGGATA	0.617000													2	4					0.0016	0.00177108	0.004672	1	0
TTN	7273	broad.mit.edu	37	2	179611919	179611919	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:179611919G>C	ENST00000360870.5	-	46	15430	c.15208C>G	c.(15208-15210)Cta>Gta	p.L5070V	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1177	Ig-like 31.						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)			TATCTCTCTAGAGTCTCTCCT	0.522000													10	187					0	0	0.006214	0	0
C5orf64	285668	broad.mit.edu	37	5	60982794	60982794	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:60982794A>T	ENST00000505642.1	+	3	197	c.122A>T	c.(121-123)gAg>gTg	p.E41V	RP11-2O17.2_ENST00000505623.1_RNA|RP11-2O17.2_ENST00000513386.1_RNA|RP11-2O17.2_ENST00000507264.1_RNA|C5orf64_ENST00000313303.7_Missense_Mutation_p.E41V|C5orf64_ENST00000510414.1_Intron	NM_173667.2	NP_775938.1	Q2M2E5	CE064_HUMAN	chromosome 5 open reading frame 64	41						extracellular region				breast(1)	1						ACTGCGATAGAGACAGAGTTC	0.448000													27	220					0	0	0.007291	0	0
VPS13A	23230	broad.mit.edu	37	9	79954579	79954579	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr9:79954579C>G	ENST00000360280.3	+	48	6786	c.6526C>G	c.(6526-6528)Caa>Gaa	p.Q2176E	VPS13A_ENST00000357409.5_Missense_Mutation_p.Q2176E|VPS13A_ENST00000376634.4_Missense_Mutation_p.Q2176E|VPS13A_ENST00000376636.3_Missense_Mutation_p.Q2137E	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2176					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCCTAATCAGCAAGACATTAG	0.348000													14	127					0	0	0.002450	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763844	77763844	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:77763844G>A	ENST00000521891.2	+	10	5135	c.4687G>A	c.(4687-4689)Gtt>Att	p.V1563I	ZFHX4_ENST00000518282.1_Missense_Mutation_p.V1537I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V1518I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V1518I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1518						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTATAATTCAGTTTCTCACTT	0.403000										HNSCC(33;0.089)			10	176					0	0	0.006214	0	0
PKHD1	5314	broad.mit.edu	37	6	51890489	51890489	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:51890489C>A	ENST00000371117.3	-	32	4394	c.4119G>T	c.(4117-4119)atG>atT	p.M1373I	PKHD1_ENST00000340994.4_Missense_Mutation_p.M1373I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1373	IPT/TIG 8; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TAGCAAATCCCATCTGCTTCT	0.537000													8	104					0.000274275	0.000316645	0.004482	1	0
DDX18	8886	broad.mit.edu	37	2	118577359	118577359	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:118577359G>T	ENST00000263239.2	+	3	633	c.505G>T	c.(505-507)Gga>Tga	p.G169*	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	169							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCTGCCCCTGGGACTGACAGG	0.423000													5	113					1.12685e-05	1.42321e-05	0.004482	1	0
GUCY2C	2984	broad.mit.edu	37	12	14781651	14781651	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:14781651G>T	ENST00000261170.3	-	20	2314	c.2178C>A	c.(2176-2178)aaC>aaA	p.N726K		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	726	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CCTCCCAACAGTTTTTTACAA	0.348000													9	174					1.76689e-08	2.51872e-08	0.006214	1	0
NES	10763	broad.mit.edu	37	1	156639829	156639829	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:156639829C>A	ENST00000368223.3	-	4	4283	c.4151G>T	c.(4150-4152)gGg>gTg	p.G1384V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1384	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCCACCTCCCCAGGGACCCC	0.602000													10	132					4.68919e-08	6.62466e-08	0.008291	1	0
KCNJ8	3764	broad.mit.edu	37	12	21926524	21926524	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:21926524C>T	ENST00000240662.2	-	2	372	c.27G>A	c.(25-27)ccG>ccA	p.P9P		NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	9						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CATACTCCTCCGGGATGATAC	0.642000											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	205					0	0	0.002450	0	0
TERT	7015	broad.mit.edu	37	5	1293449	1293449	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:1293449C>A	ENST00000310581.5	-	2	1609	c.1552G>T	c.(1552-1554)Gct>Tct	p.A518S	TERT_ENST00000334602.6_Missense_Mutation_p.A518S|TERT_ENST00000296820.5_Missense_Mutation_p.A518S|TERT_ENST00000508104.2_Missense_Mutation_p.A518S	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	518	QFP motif.|RNA-interacting domain 2.|Required for oligomerization.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGCAGCCAAGCGCAGTCCCGC	0.642000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				6	19					0.00116845	0.00129793	0.001168	1	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654817	31654817	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr21:31654817A>T	ENST00000340345.4	-	1	459	c.434T>A	c.(433-435)cTc>cAc	p.L145H		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	145						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						ACCGTTGCGGAGGGTTTGGCA	0.498000													7	292					0	0	0.003080	0	0
CKAP5	9793	broad.mit.edu	37	11	46772122	46772122	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:46772122C>G	ENST00000529230.1	-	41	5546	c.5500G>C	c.(5500-5502)Gct>Cct	p.A1834P	CKAP5_ENST00000312055.5_Missense_Mutation_p.A1774P|CKAP5_ENST00000354558.3_Missense_Mutation_p.A1774P|CKAP5_ENST00000415402.1_Missense_Mutation_p.A1841P			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1834					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						AAAATCTCAGCTAAGAAATCA	0.353000													3	63					0	0	0.004672	0	0
LINC00303	284573	broad.mit.edu	37	1	204006672	204006672	+	RNA	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:204006672G>T	ENST00000367207.3	-	0	348																											GCGGTGGCGGGTGGCTTTGGT	0.587000													3	51					6.4e-05	7.66349e-05	0.004672	1	0
NUDT2	318	broad.mit.edu	37	9	34343307	34343307	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr9:34343307A>T	ENST00000379158.2	+	5	671	c.313A>T	c.(313-315)Atc>Ttc	p.I105F	NUDT2_ENST00000346365.4_Missense_Mutation_p.I105F|NUDT2_ENST00000379155.5_Missense_Mutation_p.I105F	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	105	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TGACGTGGAGATCCGCCTCTC	0.547000													46	52					0	0	0.014410	0	0
MCTP2	55784	broad.mit.edu	37	15	94857544	94857544	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:94857544A>G	ENST00000357742.4	+	2	499	c.499A>G	c.(499-501)Atg>Gtg	p.M167V	MCTP2_ENST00000451018.3_Missense_Mutation_p.M167V|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.M167V	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	167					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GAATGCTTCTATGACATCTCA	0.328000													11	155					0	0	0.002450	0	0
OCA2	4948	broad.mit.edu	37	15	28096535	28096535	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:28096535G>A	ENST00000354638.3	-	22	2486	c.2331C>T	c.(2329-2331)tgC>tgT	p.C777C	OCA2_ENST00000353809.5_Silent_p.C753C	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	777					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TACCTCCCAGGCAAGCACCGA	0.597000									Oculocutaneous Albinism				3	26					0	0	0.009096	0	0
ATAD2	29028	broad.mit.edu	37	8	124371467	124371467	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:124371467G>T	ENST00000287394.5	-	11	1483	c.1376C>A	c.(1375-1377)cCc>cAc	p.P459H	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ttaCCTTGGGGGTTGAATTTT	0.313000													10	173					2.17888e-05	2.6848e-05	0.006214	1	0
HOXA5	3202	broad.mit.edu	37	7	27182841	27182841	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:27182841G>A	ENST00000222726.3	-	1	446	c.386C>T	c.(385-387)tCg>tTg	p.S129L	HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	129					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GGCGTCGGCCGAGGCGCCGCT	0.731000													3	20					0	0	0.009096	0	0
NEB	4703	broad.mit.edu	37	2	152553887	152553887	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:152553887T>A	ENST00000427231.2	-	15	1544	c.1342A>T	c.(1342-1344)Aaa>Taa	p.K448*	NEB_ENST00000397345.3_Nonsense_Mutation_p.K448*|NEB_ENST00000172853.10_Nonsense_Mutation_p.K448*|NEB_ENST00000603639.1_Nonsense_Mutation_p.K448*|NEB_ENST00000604864.1_Nonsense_Mutation_p.K448*|NEB_ENST00000409198.1_Nonsense_Mutation_p.K448*	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	448					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTGTGACTTTCATGCAGTGT	0.353000													16	367					0	0	0.006122	0	0
POM121L12	285877	broad.mit.edu	37	7	53104052	53104052	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:53104052G>T	ENST00000408890.4	+	1	704	c.688G>T	c.(688-690)Gtg>Ttg	p.V230L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	230										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCTTCCTTCGTGCCCAGGCC	0.647000													17	73					1.00905e-13	1.64655e-13	0.008871	1	0
MBD6	114785	broad.mit.edu	37	12	57920459	57920459	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:57920459C>G	ENST00000355673.3	+	7	1887	c.1531C>G	c.(1531-1533)Ccc>Gcc	p.P511A	MBD6_ENST00000431731.2_Missense_Mutation_p.P511A	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	511	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCCTCTGCCTCCCCTGGCTGG	0.677000													4	51					0	0	0.000602	0	0
HAO1	54363	broad.mit.edu	37	20	7875859	7875859	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:7875859C>G	ENST00000378789.3	-	5	785	c.734G>C	c.(733-735)aGg>aCg	p.R245T		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	245	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AACAGCCTCCCTGGCATCATC	0.502000													3	63					0	0	0.001984	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751382	19751382	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr13:19751382G>A	ENST00000400113.3	-	4	845	c.741C>T	c.(739-741)gcC>gcT	p.A247A		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	247					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCACATTCAGGGCCCCGTCAA	0.617000													9	106					0	0	0.008291	0	0
COL22A1	169044	broad.mit.edu	37	8	139890307	139890307	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:139890307G>T	ENST00000303045.6	-	3	790	c.344C>A	c.(343-345)aCc>aAc	p.T115N	COL22A1_ENST00000435777.1_Missense_Mutation_p.T115N	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	115	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCCGTGTTGGTGTTGCCCCC	0.701000										HNSCC(7;0.00092)			7	17					1.12685e-05	1.42321e-05	0.004482	1	0
GABRA1	2554	broad.mit.edu	37	5	161281255	161281255	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:161281255C>A	ENST00000428797.2	+	4	521	c.166C>A	c.(166-168)Cgc>Agc	p.R56S	GABRA1_ENST00000023897.6_Missense_Mutation_p.R56S|GABRA1_ENST00000420560.1_Missense_Mutation_p.R56S|GABRA1_ENST00000437025.2_Missense_Mutation_p.R56S|GABRA1_ENST00000393943.4_Missense_Mutation_p.R56S|GABRA1_ENST00000444819.1_Missense_Mutation_p.R56S	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	56					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TTATGACAATCGCCTGAGACC	0.373000													18	180					9.16793e-09	1.3188e-08	0.004990	1	0
TAS2R16	50833	broad.mit.edu	37	7	122635480	122635480	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:122635480G>T	ENST00000249284.2	-	1	274	c.209C>A	c.(208-210)tCc>tAc	p.S70Y		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	70					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTAAAATAGGAGCAAAAATT	0.403000													29	119					4.87955e-14	7.99336e-14	0.005443	1	0
ROR1	4919	broad.mit.edu	37	1	64515528	64515528	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:64515528C>G	ENST00000371079.1	+	3	704	c.329C>G	c.(328-330)aCc>aGc	p.T110S	ROR1_ENST00000371080.1_Missense_Mutation_p.T110S|ROR1_ENST00000482426.1_3'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	110	Ig-like C2-type.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TTTCGGTCCACCATCTATGGC	0.562000													11	300					0	0	0.010729	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56789124	56789124	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:56789124C>A	ENST00000413728.2	-	3	821	c.278G>T	c.(277-279)tGg>tTg	p.W93L	ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.W93L|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.W119L|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.W87L|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.W87L|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.W58L	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	87					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		ATTTCTGGACCAGGGTCGGGG	0.567000													24	249					4.26978e-12	6.77478e-12	0.003330	1	0
CHRND	1144	broad.mit.edu	37	2	233396169	233396169	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:233396169G>A	ENST00000258385.3	+	8	960	c.928G>A	c.(928-930)Ggc>Agc	p.G310S	CHRND_ENST00000536614.1_3'UTR|CHRND_ENST00000457943.2_Missense_Mutation_p.G116S|CHRND_ENST00000543200.1_Missense_Mutation_p.G295S	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	310					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CCCCCTTATCGGCAAGTGAGT	0.607000													5	46					0	0	0.001168	0	0
ACHE	43	broad.mit.edu	37	7	100491327	100491327	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:100491327A>T	ENST00000302913.4	-	2	665	c.527T>A	c.(526-528)gTg>gAg	p.V176E	ACHE_ENST00000411582.1_Missense_Mutation_p.V176E|ACHE_ENST00000428317.1_Missense_Mutation_p.V176E|ACHE_ENST00000419336.2_Missense_Mutation_p.V176E|ACHE_ENST00000412389.1_Missense_Mutation_p.V176E|ACHE_ENST00000241069.5_Missense_Mutation_p.V176E	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	176					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GGACACCAGCACAGTCCTCTC	0.637000													5	112					0	0	0.001168	0	0
TTC21B	79809	broad.mit.edu	37	2	166747407	166747407	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:166747407T>A	ENST00000243344.7	-	23	3179	c.3042A>T	c.(3040-3042)aaA>aaT	p.K1014N		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1014						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGGAGTTACGTTTCTCAGCCA	0.328000													6	73					0	0	0.003080	0	0
SYT6	148281	broad.mit.edu	37	1	114682494	114682494	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:114682494C>G	ENST00000393296.1	-	2	332	c.255G>C	c.(253-255)tgG>tgC	p.W85C	SYT6_ENST00000369547.1_5'UTR			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	85					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)		TCCAGGGCATCCAGCACAGCT	0.582000													13	132					0	0	0.001855	0	0
COG2	22796	broad.mit.edu	37	1	230822783	230822783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:230822783C>T	ENST00000534989.1	+	13	1641	c.1306C>T	c.(1306-1308)Caa>Taa	p.Q436*	COG2_ENST00000366669.4_Nonsense_Mutation_p.Q495*|COG2_ENST00000535166.1_Nonsense_Mutation_p.Q379*|COG2_ENST00000546013.1_Nonsense_Mutation_p.Q184*|COG2_ENST00000366668.3_Nonsense_Mutation_p.Q495*			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	495					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CACTGAAGACCAAGGAAGTGG	0.483000													5	121					0	0	0.001168	0	0
HECW1	23072	broad.mit.edu	37	7	43484000	43484000	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:43484000T>C	ENST00000395891.1	+	11	1834	c.1229T>C	c.(1228-1230)aTa>aCa	p.I410T	HECW1_ENST00000453890.1_Missense_Mutation_p.I410T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	410					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AACCAAAGCATAGAGCTTTCC	0.622000													16	53					0	0	0.007413	0	0
GRM8	2918	broad.mit.edu	37	7	126249511	126249511	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:126249511C>A	ENST00000339582.2	-	8	2207	c.1399G>T	c.(1399-1401)Gct>Tct	p.A467S	GRM8_ENST00000444921.2_Missense_Mutation_p.A467S|GRM8_ENST00000480995.1_Intron|GRM8_ENST00000405249.1_Missense_Mutation_p.M490I|GRM8_ENST00000358373.3_Missense_Mutation_p.A467S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	467					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CGTCCAGGAGCATCTCCGTTT	0.388000										HNSCC(24;0.065)			10	184					4.68919e-08	6.62466e-08	0.008291	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121651816	121651816	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:121651816T>C	ENST00000393386.2	+	12	3127	c.2716T>C	c.(2716-2718)Tct>Cct	p.S906P	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	906					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GCTTATGTTTTCTCAAGTTGA	0.458000													10	179					0	0	0.006214	0	0
HNF1A	6927	broad.mit.edu	37	12	121434482	121434482	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:121434482C>A	ENST00000257555.6	+	6	1472	c.1246C>A	c.(1246-1248)Cct>Act	p.P416T	HNF1A_ENST00000400024.2_Missense_Mutation_p.P416T|HNF1A_ENST00000402929.1_Missense_Mutation_p.P416T|HNF1A_ENST00000544413.1_Missense_Mutation_p.P416T|HNF1A_ENST00000543427.1_Missense_Mutation_p.P299T|HNF1A_ENST00000541395.1_Missense_Mutation_p.P416T|HNF1A_ENST00000538626.1_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	416					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACCATCGGGCCTGGTGAGCC	0.632000									Hepatic Adenoma, Familial Clustering of				7	33					0.000274275	0.000316645	0.004482	1	0
CDHR1	92211	broad.mit.edu	37	10	85972975	85972975	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:85972975C>A	ENST00000372117.3	+	16	2014	c.1911C>A	c.(1909-1911)tcC>tcA	p.S637S	CDHR1_ENST00000332904.3_Silent_p.S637S|CDHR1_ENST00000440770.2_Silent_p.S341S	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	637	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CCATCCGCTCCCTGGATGCCC	0.587000													33	163					5.8336e-16	9.74582e-16	0.003271	1	0
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304891	66304891	+	RNA	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:66304891G>A	ENST00000457166.1	-	0	181					NR_003934.1																						CACCTGGCCCGCAGTCTTCAC	0.617000													6	39					0	0	0.001984	0	0
YY1AP1	55249	broad.mit.edu	37	1	155629622	155629622	+	Silent	SNP	T	T	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:155629622T>G	ENST00000368340.5	-	10	2541	c.2433A>C	c.(2431-2433)tcA>tcC	p.S811S	YY1AP1_ENST00000368339.5_Silent_p.S831S|YY1AP1_ENST00000407221.1_Silent_p.S662S|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000347088.5_Silent_p.S693S|YY1AP1_ENST00000295566.4_Silent_p.S739S|YY1AP1_ENST00000361831.5_Silent_p.S682S|YY1AP1_ENST00000311573.5_Silent_p.S662S|YY1AP1_ENST00000355499.4_Silent_p.S693S|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000404643.1_Silent_p.S673S|YY1AP1_ENST00000368330.2_Silent_p.S693S|YY1AP1_ENST00000359205.5_Silent_p.S682S|YY1AP1_ENST00000535662.1_Silent_p.S539S	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CACTGTTCTCTGACAATCCTT	0.532000													18	108					0	0	0.010504	0	0
FGD5	152273	broad.mit.edu	37	3	14862492	14862492	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:14862492C>A	ENST00000285046.5	+	1	2024	c.1914C>A	c.(1912-1914)atC>atA	p.I638I	FGD5_ENST00000543601.1_Silent_p.I397I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	638					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CACTCCTGATCGAGAGCGACT	0.527000													8	95					3.09899e-07	4.24514e-07	0.004482	1	0
PLCB4	5332	broad.mit.edu	37	20	9434108	9434108	+	Splice_Site	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:9434108G>A	ENST00000378501.2	+	29	2974	c.2960_splice	c.e29+1	p.G987_splice	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Splice_Site_p.G987_splice|PLCB4_ENST00000278655.4_Splice_Site_p.G987_splice|PLCB4_ENST00000378473.3_Splice_Site_p.G999_splice|PLCB4_ENST00000414679.2_Splice_Site_p.G999_splice|PLCB4_ENST00000378493.1_Splice_Site_p.G987_splice	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	987					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAAGAAGAAGGGGTAATACTG	0.383000													4	89					0	0	0.009096	0	0
SLC4A1	6521	broad.mit.edu	37	17	42328846	42328846	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:42328846G>T	ENST00000262418.6	-	18	2577	c.2422C>A	c.(2422-2424)Cgc>Agc	p.R808S		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	808	Membrane (anion exchange).		R -> C (in SPH4; Jablonec).|R -> H (in SPH4; Nara).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	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)		AGCAAGATGCGGTCAAAGAGC	0.587000													26	74					3.65163e-15	6.02877e-15	0.006320	1	0
EPHB6	2051	broad.mit.edu	37	7	142562017	142562017	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:142562017C>A	ENST00000392957.2	+	7	1246	c.459C>A	c.(457-459)acC>acA	p.T153T	EPHB6_ENST00000442129.1_Silent_p.T153T|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	153						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AACGCTGGACCAAGGTGGACA	0.637000													14	208					1.49906e-05	1.86533e-05	0.002450	1	0
PPP1R17	10842	broad.mit.edu	37	7	31746849	31746849	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:31746849A>T	ENST00000342032.3	+	5	1048	c.420A>T	c.(418-420)aaA>aaT	p.K140N	PPP1R17_ENST00000409146.3_Missense_Mutation_p.K89N|PPP1R17_ENST00000498609.1_3'UTR	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	140					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											AGAGACCCAAAGCAATCGTGG	0.428000													5	186					0	0	0.001984	0	0
GNL2	29889	broad.mit.edu	37	1	38032463	38032463	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:38032463T>A	ENST00000373062.3	-	16	2287	c.2189A>T	c.(2188-2190)aAg>aTg	p.K730M	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	730					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				ACATTACTGCTTTTGTCTGAA	0.353000													12	250					0	0	0.013537	0	0
KCTD7	154881	broad.mit.edu	37	7	66104113	66104113	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:66104113A>T	ENST00000275532.3	+	4	948	c.764A>T	c.(763-765)cAg>cTg	p.Q255L	KCTD7_ENST00000443322.1_Missense_Mutation_p.Q255L	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	255						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CTCTCGGCCCAGGGTCTCACC	0.567000													8	127					0	0	0.003080	0	0
NPAS4	266743	broad.mit.edu	37	11	66191384	66191384	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:66191384C>T	ENST00000311034.2	+	7	1199	c.1023C>T	c.(1021-1023)acC>acT	p.T341T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	341					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GCACTCCGACCATGCTGCCCT	0.577000													26	188					0	0	0.006320	0	0
CDH8	1006	broad.mit.edu	37	16	61891112	61891112	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:61891112T>C	ENST00000577390.1	-	4	1532	c.578A>G	c.(577-579)gAc>gGc	p.D193G	CDH8_ENST00000584337.1_Missense_Mutation_p.D193G|CDH8_ENST00000577730.1_Missense_Mutation_p.D193G|CDH8_ENST00000299345.6_Missense_Mutation_p.D193G	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	193	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTCATCAGCGTCGGTCGCAGT	0.388000													3	101					0	0	0.004672	0	0
HMCN1	83872	broad.mit.edu	37	1	186113345	186113345	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:186113345C>A	ENST00000271588.4	+	90	14194	c.13965C>A	c.(13963-13965)tgC>tgA	p.C4655*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.C4655*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4655	TSP type-1 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGGGAACATGCAGCGAAAGTT	0.478000													15	259					0.000308642	0.00035567	0.003163	1	0
OR5D16	390144	broad.mit.edu	37	11	55606541	55606541	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:55606541T>C	ENST00000378396.1	+	1	314	c.314T>C	c.(313-315)tTc>tCc	p.F105S		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CAATTCTTTTTCTTTTGCACC	0.423000													13	851					0	0	0.001855	0	0
FGF12	2257	broad.mit.edu	37	3	192053166	192053166	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:192053166C>T	ENST00000454309.2	-	3	1223	c.398G>A	c.(397-399)gGc>gAc	p.G133D	FGF12_ENST00000264730.3_Missense_Mutation_p.G71D|FGF12_ENST00000450716.1_Missense_Mutation_p.G71D|FGF12_ENST00000445105.1_Missense_Mutation_p.G71D|FGF12_ENST00000430714.1_Missense_Mutation_p.G34D	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	133					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GTAGAGATAGCCTTCACCATT	0.468000													9	210					0	0	0.001855	0	0
NARS2	79731	broad.mit.edu	37	11	78285406	78285406	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:78285406C>T	ENST00000281038.5	-	1	503	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	43					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	p.R43H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GATCTTAATGCGCTCCCCACT	0.542000													4	220					0	0	0.000602	0	0
SORCS3	22986	broad.mit.edu	37	10	106916950	106916950	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:106916950A>T	ENST00000369701.3	+	10	1764	c.1537A>T	c.(1537-1539)Aag>Tag	p.K513*		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	513						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)		CGACCAGGTGAAGACATACAT	0.522000													16	207					0	0	0.004007	0	0
NR2E3	10002	broad.mit.edu	37	15	72105900	72105900	+	RNA	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:72105900A>G	ENST00000398840.2	+	0	1109							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						GCAGGAAACTATCTCTCGGTT	0.642000													5	26					0	0	0.001984	0	0
SCML2	10389	broad.mit.edu	37	X	18278384	18278384	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:18278384T>C	ENST00000251900.4	-	9	1135	c.976A>G	c.(976-978)Aca>Gca	p.T326A	SCML2_ENST00000398048.3_Missense_Mutation_p.T62A	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	326					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GCTGCAGATGTAGAACATATC	0.353000													4	55					0	0	0.009096	0	0
RPL7	6129	broad.mit.edu	37	8	74205838	74205838	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:74205838C>A	ENST00000352983.2	-	1	295	c.10G>T	c.(10-12)Gta>Tta	p.V4L	RPL7_ENST00000396467.1_5'UTR|RPL7_ENST00000396466.1_Intron|RPL7_ENST00000396465.1_Intron			P18124	RL7_HUMAN	ribosomal protein L7	4					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			ACTCACTCTACACCCTCCATG	0.502000													9	21					0.00448238	0.00485111	0.004482	1	0
FRMPD3	84443	broad.mit.edu	37	X	106808208	106808208	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:106808208T>A	ENST00000276185.4	+	13	1307	c.1307T>A	c.(1306-1308)cTg>cAg	p.L436Q				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	436	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ACCACTGTGCTGTCCGAGTTC	0.592000													11	111					0	0	0.013537	0	0
SYNE1	23345	broad.mit.edu	37	6	152643000	152643000	+	Silent	SNP	A	A	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:152643000A>C	ENST00000367255.5	-	83	16540	c.15939T>G	c.(15937-15939)acT>acG	p.T5313T	SYNE1_ENST00000265368.4_Silent_p.T5313T|SYNE1_ENST00000423061.1_Silent_p.T5242T|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000448038.1_Silent_p.T5242T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5313					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTTTCCATTAGTCTTCACTT	0.398000										HNSCC(10;0.0054)			10	138					0	0	0.008291	0	0
TREM2	54209	broad.mit.edu	37	6	41129195	41129195	+	Missense_Mutation	SNP	G	G	T	rs149196396	by1000genomes	TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:41129195G>T	ENST00000373113.3	-	2	290	c.197C>A	c.(196-198)aCg>aAg	p.T66K	TREM2_ENST00000373122.4_Missense_Mutation_p.T66K|TREM2_ENST00000338469.3_Missense_Mutation_p.T66K	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	66	Ig-like V-type.				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAAGTTGTGCGTGCTGACCAC	0.612000													5	149					0.00116845	0.00129793	0.001168	1	0
AQP1	358	broad.mit.edu	37	7	30961709	30961709	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:30961709G>A	ENST00000311813.4	+	2	468	c.413G>A	c.(412-414)gGc>gAc	p.G138D	AQP1_ENST00000509504.1_Missense_Mutation_p.G315D|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000409611.1_Missense_Mutation_p.G87D|AQP1_ENST00000409899.1_Missense_Mutation_p.G23D|AQP1_ENST00000441328.2_Missense_Mutation_p.G55D|AQP1_ENST00000434909.2_Missense_Mutation_p.G198D	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				TCGGGCCAGGGCCTGGGCATC	0.652000													9	182					0	0	0.010729	0	0
INPP4B	8821	broad.mit.edu	37	4	143094861	143094861	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:143094861G>C	ENST00000513000.1	-	17	1716	c.1283C>G	c.(1282-1284)gCa>gGa	p.A428G	INPP4B_ENST00000262992.4_Missense_Mutation_p.A428G|INPP4B_ENST00000509777.1_Missense_Mutation_p.A428G|INPP4B_ENST00000308502.4_Missense_Mutation_p.A428G|INPP4B_ENST00000508116.1_Missense_Mutation_p.A428G	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	428					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CAGTAGGTCTGCATGGGTTGC	0.388000													6	243					0	0	0.001168	0	0
OR5D16	390144	broad.mit.edu	37	11	55606958	55606958	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:55606958C>A	ENST00000378396.1	+	1	731	c.731C>A	c.(730-732)gCc>gAc	p.A244D		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCCACCTGTGCCTCCCACCTG	0.507000													27	277					4.2108e-06	5.42677e-06	0.009535	1	0
GALNT14	79623	broad.mit.edu	37	2	31215860	31215860	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:31215860T>A	ENST00000349752.5	-	2	782	c.143A>T	c.(142-144)gAc>gTc	p.D48V	GALNT14_ENST00000420311.2_Missense_Mutation_p.D13V|GALNT14_ENST00000406653.1_Missense_Mutation_p.D28V|GALNT14_ENST00000324589.5_Intron|GALNT14_ENST00000356174.3_Missense_Mutation_p.D48V	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	48						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GTCGTCCCAGTCAGCGTCCGA	0.572000													6	81					0	0	0.001168	0	0
FGF23	8074	broad.mit.edu	37	12	4479598	4479598	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:4479598G>A	ENST00000237837.1	-	3	812	c.667C>T	c.(667-669)Cca>Tca	p.P223S		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	223					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			ACCCCTAATGGGTCACTGGCC	0.687000													7	56					0	0	0.003080	0	0
ZNF317	57693	broad.mit.edu	37	19	9271813	9271813	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:9271813G>T	ENST00000247956.6	+	7	1797	c.1492G>T	c.(1492-1494)Gta>Tta	p.V498L	ZNF317_ENST00000360385.3_Missense_Mutation_p.V466L	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CGTTCACCTTGTAAAGAAACG	0.552000													23	76					7.41877e-09	1.07094e-08	0.012319	1	0
KANK1	23189	broad.mit.edu	37	9	712598	712598	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr9:712598A>G	ENST00000382303.1	+	7	2484	c.1832A>G	c.(1831-1833)aAc>aGc	p.N611S	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.N611S|KANK1_ENST00000382293.3_Missense_Mutation_p.N453S	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	611					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GAGTCTGTGAACGACCTCACA	0.507000													11	89					0	0	0.010729	0	0
VCAM1	7412	broad.mit.edu	37	1	101203756	101203756	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:101203756A>G	ENST00000294728.2	+	9	2238	c.2137A>G	c.(2137-2139)Att>Gtt	p.I713V	VCAM1_ENST00000370115.1_Missense_Mutation_p.I514V|VCAM1_ENST00000370119.4_Missense_Mutation_p.I651V|VCAM1_ENST00000347652.2_Missense_Mutation_p.I621V	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	713					heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AATACCTGCCATTGGAATGAT	0.363000													28	305					0	0	0.014410	0	0
TICAM2	353376	broad.mit.edu	37	5	114916758	114916758	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:114916758C>G	ENST00000408996.4	-	4	1089	c.703G>C	c.(703-705)Gaa>Caa	p.E235Q	TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.E235Q|TICAM2_ENST00000427199.2_Missense_Mutation_p.E66Q|TMED7-TICAM2_ENST00000333314.3_3'UTR	NM_001164468.2|NM_001164469.2	NP_001157940.1|NP_001157941.1			toll-like receptor adaptor molecule 2											cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)		AACATCTCTTCCACGCTCTGA	0.453000													44	704					0	0	0.014410	0	0
CSMD2	114784	broad.mit.edu	37	1	34076770	34076770	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:34076770T>A	ENST00000373381.4	-	41	6390	c.6214A>T	c.(6214-6216)Agc>Tgc	p.S2072C	CSMD2_ENST00000373388.2_Missense_Mutation_p.S171C|CSMD2_ENST00000373377.1_Missense_Mutation_p.S171C|CSMD2_ENST00000373380.1_Missense_Mutation_p.S945C	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2032	CUB 12.					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)				ATCATGCGGCTGGTCTCATAG	0.562000													7	142					0	0	0.008291	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643141	37643141	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:37643141C>A	ENST00000356958.4	-	5	1918	c.1660G>T	c.(1660-1662)Gaa>Taa	p.E554*	ZNF585A_ENST00000292841.5_Nonsense_Mutation_p.E499*|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Nonsense_Mutation_p.E499*|ZNF585A_ENST00000355533.2_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E499K(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCCACATTCGTGGCATTCA	0.403000													11	328					3.57192e-18	6.11293e-18	0.006122	1	0
USP14	9097	broad.mit.edu	37	18	178987	178987	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:178987G>C	ENST00000261601.6	+	4	341	c.250G>C	c.(250-252)Gcc>Ccc	p.A84P	USP14_ENST00000400266.3_Missense_Mutation_p.A73P|USP14_ENST00000582707.1_Intron|USP14_ENST00000383589.2_Intron	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	84					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AGAACCCTCAGCCAAAACTGT	0.378000													3	84					0	0	0.009096	0	0
BRINP3	339479	broad.mit.edu	37	1	190067308	190067308	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:190067308G>C	ENST00000367462.3	-	8	2372	c.2141C>G	c.(2140-2142)tCc>tGc	p.S714C	FAM5C_ENST00000534846.1_Missense_Mutation_p.S612C|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		714						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					ACCAGGTGGGGAGAGTTTATT	0.493000													12	189					0	0	0.013537	0	0
IL27	246778	broad.mit.edu	37	16	28513378	28513378	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:28513378G>A	ENST00000356897.1	-	4	403	c.381C>T	c.(379-381)ggC>ggT	p.G127G		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	127					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						TGGTCCAGCGGCCCTGGGTCC	0.667000													6	76					0	0	0.004482	0	0
LILRB4	11006	broad.mit.edu	37	19	55175259	55175259	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:55175259A>C	ENST00000391736.1	+	5	433	c.118A>C	c.(118-120)Agc>Cgc	p.S40R	LILRB4_ENST00000430952.2_Missense_Mutation_p.S40R|LILRB4_ENST00000270452.2_Missense_Mutation_p.S40R|LILRB4_ENST00000391733.3_Missense_Mutation_p.S40R|LILRB4_ENST00000391734.3_Missense_Mutation_p.S40R	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	40	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CTCTGTGATCAGCTGGGGGAA	0.602000													17	134					0	0	0.008871	0	0
SLC6A5	9152	broad.mit.edu	37	11	20648268	20648268	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:20648268G>A	ENST00000525748.1	+	8	1548	c.1275G>A	c.(1273-1275)acG>acA	p.T425T		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	425			T -> M (in STHE; no effect on subcellular location; impairs glycine transport).		synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGTACTTCACGGCCACGTTCC	0.587000													9	102					0	0	0.004482	0	0
BET1	10282	broad.mit.edu	37	7	93628555	93628555	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:93628555C>A	ENST00000222547.3	-	2	229	c.71G>T	c.(70-72)gGg>gTg	p.G24V	AC006378.2_ENST00000426634.1_RNA|BET1_ENST00000433727.1_Missense_Mutation_p.G24V|AC006378.2_ENST00000426193.2_RNA|BET1_ENST00000425626.1_Missense_Mutation_p.G24V	NM_005868.4	NP_005859.1	O15155	BET1_HUMAN	Bet1 golgi vesicular membrane trafficking protein	24					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding			large_intestine(2)|lung(1)|prostate(1)|skin(1)	5	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	STAD - Stomach adenocarcinoma(171;0.000967)			GGCACTATACCCACTATTAGC	0.398000													5	156					5.9392e-07	8.02268e-07	0.001168	1	0
DENND2C	163259	broad.mit.edu	37	1	115143518	115143518	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:115143518T>C	ENST00000393274.1	-	14	2504	c.1879A>G	c.(1879-1881)Agt>Ggt	p.S627G	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.S627G|DENND2C_ENST00000393276.3_Missense_Mutation_p.S570G	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	627	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCATGACACTTCGCATGAAT	0.433000													16	158					0	0	0.007413	0	0
USP32	84669	broad.mit.edu	37	17	58313588	58313588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:58313588G>A	ENST00000300896.4	-	12	1344	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	USP32_ENST00000592339.1_Nonsense_Mutation_p.R54*	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	384	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTGCTCTCTCGTTCTAACCAT	0.378000													9	198					0	0	0.008291	0	0
SLC9B1	150159	broad.mit.edu	37	4	103832641	103832641	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:103832641G>T	ENST00000296422.7	-	8	1024	c.883C>A	c.(883-885)Ctg>Atg	p.L295M	SLC9B1_ENST00000394789.3_Missense_Mutation_p.L295M|SLC9B1_ENST00000512651.2_Intron	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	295						integral to membrane	solute:hydrogen antiporter activity										ATTCCTGCCAGCAGACTAATA	0.323000													8	79					0.00621372	0.0066734	0.006214	1	0
ANO1	55107	broad.mit.edu	37	11	69933992	69933992	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:69933992G>A	ENST00000355303.5	+	2	548	c.243G>A	c.(241-243)agG>agA	p.R81R	ANO1_ENST00000316296.5_Silent_p.R53R|ANO1_ENST00000538023.1_Silent_p.R81R|ANO1_ENST00000530676.1_5'UTR|ANO1_ENST00000398543.2_5'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	81					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CCCTGGTCAGGAGGGTGCAGC	0.672000													4	9					0	0	0.009096	0	0
FCRL3	115352	broad.mit.edu	37	1	157660280	157660280	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:157660280G>A	ENST00000368184.3	-	9	1746	c.1455C>T	c.(1453-1455)gcC>gcT	p.A485A	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.A485A	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	485	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCACAGCCTGGGCCCCGGGAG	0.562000													26	135					0	0	0.009535	0	0
C11orf52	91894	broad.mit.edu	37	11	111796789	111796789	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:111796789G>T	ENST00000278601.5	+	4	334	c.238G>T	c.(238-240)Gac>Tac	p.D80Y	C11orf52_ENST00000527286.1_3'UTR|HSPB2-C11orf52_ENST00000534100.1_3'UTR	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	80										lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		ACATTATGCTGACATTCAAGT	0.522000													12	50					0.00136819	0.00151582	0.013537	1	0
HTR3C	170572	broad.mit.edu	37	3	183776234	183776234	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:183776234C>A	ENST00000318351.1	+	6	613	c.579C>A	c.(577-579)ggC>ggA	p.G193G		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	193						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGCTGCTGGGCATGGACAAGG	0.587000													13	75					1.5739e-10	2.38922e-10	0.004007	1	0
LDLRAD3	143458	broad.mit.edu	37	11	36248825	36248825	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:36248825G>T	ENST00000315571.5	+	5	666	c.645G>T	c.(643-645)gtG>gtT	p.V215V	LDLRAD3_ENST00000524419.1_Silent_p.V205V|LDLRAD3_ENST00000528989.1_Silent_p.V166V|LDLRAD3_ENST00000529759.1_3'UTR	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	215						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				AGCACCCTGTGCTGCTGTCCC	0.622000													7	68					0.00198382	0.00217308	0.001984	1	0
ANO6	196527	broad.mit.edu	37	12	45822988	45822988	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:45822988A>T	ENST00000320560.8	+	20	2829	c.2627A>T	c.(2626-2628)aAg>aTg	p.K876M	ANO6_ENST00000423947.3_Missense_Mutation_p.K897M|ANO6_ENST00000425752.2_Intron|ANO6_ENST00000435642.1_Intron|ANO6_ENST00000441606.2_Missense_Mutation_p.K858M	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	876					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTAACCCAAAAGCTTCTTCAT	0.383000													30	89					0	0	0.007291	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256781	140256781	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:140256781G>T	ENST00000398631.2	+	1	1724	c.1724G>T	c.(1723-1725)gGc>gTc	p.G575V	PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGCAGGAGGCGCAGTTAGC	0.682000													4	62					3.59834e-05	4.34899e-05	0.001168	1	0
WDR72	256764	broad.mit.edu	37	15	53905934	53905934	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:53905934A>T	ENST00000396328.1	-	16	3040	c.2801T>A	c.(2800-2802)aTa>aAa	p.I934K	WDR72_ENST00000559418.1_Missense_Mutation_p.I944K|WDR72_ENST00000557913.1_Missense_Mutation_p.I931K|WDR72_ENST00000360509.5_Missense_Mutation_p.I934K	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	934										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTATTATGTATACTTTCCAT	0.318000													22	332					0	0	0.003330	0	0
IZUMO1	284359	broad.mit.edu	37	19	49249100	49249100	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:49249100G>C	ENST00000332955.2	-	2	564	c.17C>G	c.(16-18)aCc>aGc	p.T6S		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	6					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		ACACAGGAGGGTAAAATGCGG	0.597000													3	72					0	0	0.001168	0	0
DPY19L2	283417	broad.mit.edu	37	12	64020297	64020297	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:64020297T>G	ENST00000324472.4	-	7	996	c.813A>C	c.(811-813)caA>caC	p.Q271H	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	271					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GACCTCCCAGTTGAGTCCCAC	0.313000													3	37					0	0	0.000602	0	0
CDKL5	6792	broad.mit.edu	37	X	18622562	18622562	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:18622562C>A	ENST00000379989.3	+	13	1803	c.1518C>A	c.(1516-1518)gcC>gcA	p.A506A	CDKL5_ENST00000379996.3_Silent_p.A506A|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	506					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AAGCCAGGGCCCAAATTGCGG	0.552000													80	214					7.539e-32	1.33733e-31	0.014410	1	0
GRID2	2895	broad.mit.edu	37	4	94690481	94690481	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:94690481C>A	ENST00000282020.4	+	15	2739	c.2481C>A	c.(2479-2481)gaC>gaA	p.D827E	GRID2_ENST00000510992.1_Missense_Mutation_p.D732E	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	827					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GCGCCCTGGACATAAAGAGCT	0.517000													12	201					5.50884e-06	7.02085e-06	0.013537	1	0
SCN4A	6329	broad.mit.edu	37	17	62049987	62049987	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:62049987G>A	ENST00000435607.1	-	1	291	c.215C>T	c.(214-216)cCg>cTg	p.P72L	SCN4A_ENST00000578147.1_Missense_Mutation_p.P72L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	72					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GACCTCCGGCGGGGGGTCTCC	0.582000													3	29					0	0	0.004672	0	0
LAMA4	3910	broad.mit.edu	37	6	112471782	112471782	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:112471782G>A	ENST00000230538.7	-	17	2501	c.2104C>T	c.(2104-2106)Cta>Tta	p.L702L	LAMA4_ENST00000424408.2_Silent_p.L695L|LAMA4_ENST00000389463.4_Silent_p.L695L|LAMA4_ENST00000522006.1_Silent_p.L695L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	702	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTCCTTGCTAGGGCTCCACCC	0.498000													29	125					0	0	0.012213	0	0
IGHV3-53	28420	broad.mit.edu	37	14	107048907	107048907	+	RNA	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:107048907C>A	ENST00000390627.2	-	0	333																											Acaggagagtctcagggaccc	0.572000													10	169					5.26018e-13	8.47399e-13	0.012319	1	0
NETO1	81832	broad.mit.edu	37	18	70417343	70417343	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:70417343G>T	ENST00000327305.6	-	9	2152	c.1495C>A	c.(1495-1497)Ccg>Acg	p.P499T	NETO1_ENST00000299430.2_Missense_Mutation_p.P498T|NETO1_ENST00000583169.1_Missense_Mutation_p.P499T	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	499					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTGGTGGTCGGCACCTCTTCG	0.453000													8	151					0.000274275	0.000316645	0.004482	1	0
LUZP4	51213	broad.mit.edu	37	X	114541017	114541017	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:114541017C>T	ENST00000371920.3	+	4	597	c.590C>T	c.(589-591)tCt>tTt	p.S197F	LUZP4_ENST00000451986.2_Missense_Mutation_p.S115F	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	197						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						TACAAGAGATCTCATGGTCAA	0.453000													12	107					0	0	0.002450	0	0
SIM1	6492	broad.mit.edu	37	6	100838705	100838705	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:100838705C>A	ENST00000369208.3	-	12	2615	c.1833G>T	c.(1831-1833)caG>caT	p.Q611H	SIM1_ENST00000262901.4_Missense_Mutation_p.Q611H			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	611	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTGGTGGGGGCTGTTGGTAGT	0.502000													11	103					1.58986e-06	2.08732e-06	0.008291	1	0
CYP11B2	1585	broad.mit.edu	37	8	143996211	143996211	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:143996211G>C	ENST00000323110.2	-	4	711	c.709C>G	c.(709-711)Ctc>Gtc	p.L237V		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	237					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	ATGAACATGAGCTGGACGGTG	0.592000									Familial Hyperaldosteronism type I				15	36					0	0	0.004990	0	0
NLRP5	126206	broad.mit.edu	37	19	56561898	56561898	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:56561898C>T	ENST00000390649.3	+	12	3072	c.3072C>T	c.(3070-3072)ggC>ggT	p.G1024G		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1024						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)		AAGACAATGGCGTGAAGCTTC	0.532000													27	104					0	0	0.010818	0	0
MC3R	4159	broad.mit.edu	37	20	54824718	54824718	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:54824718C>A	ENST00000243911.2	+	1	931	c.819C>A	c.(817-819)taC>taA	p.Y273*		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	310					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCAACCCCTACTGCATCTGCT	0.572000													34	294					2.48696e-23	4.32648e-23	0.003271	1	0
PPP2R2B	5521	broad.mit.edu	37	5	145969600	145969600	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:145969600C>A	ENST00000394413.3	-	9	1812	c.1242G>T	c.(1240-1242)aaG>aaT	p.K414N	PPP2R2B_ENST00000394410.2_Missense_Mutation_p.K403N|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.K414N|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.K414N|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.K417N|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.K472N|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.K403N|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.K420N|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.K414N|PPP2R2B_ENST00000530902.1_5'UTR|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.K480N			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	414					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TATGCAAGATCTTTTTGCTAA	0.463000													35	559					2.42023e-17	4.10302e-17	0.003271	1	0
NRP2	8828	broad.mit.edu	37	2	206580979	206580979	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:206580979G>T	ENST00000360409.3	+	3	1105	c.314G>T	c.(313-315)tGt>tTt	p.C105F	NRP2_ENST00000357118.4_Missense_Mutation_p.C105F|NRP2_ENST00000540841.1_Missense_Mutation_p.C105F|NRP2_ENST00000357785.5_Missense_Mutation_p.C105F|NRP2_ENST00000540178.1_Missense_Mutation_p.C105F|NRP2_ENST00000355117.4_Missense_Mutation_p.C105F|NRP2_ENST00000412873.2_Missense_Mutation_p.C105F|NRP2_ENST00000417189.1_Missense_Mutation_p.C105F|NRP2_ENST00000272849.3_Missense_Mutation_p.C105F	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	105	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGCAAACACTGTGGGAACATC	0.587000													21	173					2.39556e-15	3.9706e-15	0.002780	1	0
PPP4R4	57718	broad.mit.edu	37	14	94716613	94716613	+	Splice_Site	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:94716613A>T	ENST00000304338.3	+	15	1870	c.1717_splice	c.e15+1	p.E572_splice		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	572						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AATTAATTGAACGTAAGTAAT	0.318000													5	66					0	0	0.001984	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60036291	60036291	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:60036291G>T	ENST00000586569.1	+	9	1179	c.1141G>T	c.(1141-1143)Ggg>Tgg	p.G381W	TNFRSF11A_ENST00000269485.7_Intron	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	381					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCTGGAGGTGGGGGAGAATGA	0.552000													9	113					2.17888e-05	2.6848e-05	0.006214	1	0
LAMA1	284217	broad.mit.edu	37	18	7050762	7050762	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:7050762G>T	ENST00000389658.3	-	4	612	c.519C>A	c.(517-519)acC>acA	p.T173T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	173	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCCCTGTAGGTGGGTGGCC	0.522000													8	80					0.000274275	0.000316645	0.004482	1	0
FAM91A1	157769	broad.mit.edu	37	8	124787528	124787528	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:124787528G>C	ENST00000334705.7	+	3	545	c.299G>C	c.(298-300)gGg>gCg	p.G100A	FAM91A1_ENST00000521166.1_Missense_Mutation_p.G100A	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	100										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)			TATTATACTGGGATTATGGAG	0.453000													26	104					0	0	0.008361	0	0
CYP11B1	1584	broad.mit.edu	37	8	143956492	143956492	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:143956492G>C	ENST00000292427.4	-	8	1311	c.1279C>G	c.(1279-1281)Cgc>Ggc	p.R427G	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R498G|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	427					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	TCTAGCCAGCGCTGGGGGTTA	0.647000									Familial Hyperaldosteronism type I				9	225					0	0	0.001855	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650745	121650745	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:121650745C>A	ENST00000393386.2	+	12	2056	c.1645C>A	c.(1645-1647)Cca>Aca	p.P549T	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P549T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	549					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCTTAGATCTCCACATATGAA	0.408000													38	143					1.04594e-18	1.79731e-18	0.006230	1	0
HMCN1	83872	broad.mit.edu	37	1	186147665	186147665	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:186147665G>A	ENST00000271588.4	+	104	16290	c.16061G>A	c.(16060-16062)tGc>tAc	p.C5354Y	HMCN1_ENST00000367492.2_Intron	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5354	EGF-like 6; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGGAAATCTTGCGCTGGATTG	0.488000													31	1082					0	0	0.006320	0	0
ZNF217	7764	broad.mit.edu	37	20	52193541	52193541	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:52193541C>A	ENST00000371471.2	-	4	2187	c.1762G>T	c.(1762-1764)Ggc>Tgc	p.G588C	ZNF217_ENST00000302342.3_Missense_Mutation_p.G588C			O75362	ZN217_HUMAN	zinc finger protein 217	588					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ACAGCGCTGCCCAGAACATTC	0.428000													19	118					8.34094e-07	1.11007e-06	0.008871	1	0
FMR1NB	158521	broad.mit.edu	37	X	147062975	147062975	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:147062975C>A	ENST00000370467.3	+	1	127	c.53C>A	c.(52-54)gCc>gAc	p.A18D		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	18						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCACCGTGCCATGCGTGTG	0.597000													12	97					3.07112e-06	3.9742e-06	0.010729	1	0
CIB3	117286	broad.mit.edu	37	19	16280510	16280510	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:16280510G>T	ENST00000269878.4	-	3	178	c.129C>A	c.(127-129)ccC>ccA	p.P43P	CIB3_ENST00000379859.3_Intron|CIB3_ENST00000541493.1_Intron	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	43							calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						TATAGTCGAGGGGCACGAGCT	0.592000													4	43					0.00909568	0.0096699	0.009096	1	0
OR51G1	79324	broad.mit.edu	37	11	4944709	4944709	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:4944709G>T	ENST00000321961.2	-	1	928	c.861C>A	c.(859-861)ccC>ccA	p.P287P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTTCATAAGGGGTGGTACCA	0.458000													13	110					2.61681e-11	4.07024e-11	0.002450	1	0
APPBP2	10513	broad.mit.edu	37	17	58543708	58543708	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:58543708C>A	ENST00000083182.3	-	5	903	c.616G>T	c.(616-618)Gct>Tct	p.A206S		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	206					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TAGAGTGCAGCTTTATTTGCT	0.363000													15	116					6.94344e-10	1.03415e-09	0.006122	1	0
ZNF776	284309	broad.mit.edu	37	19	58265432	58265432	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:58265432C>A	ENST00000317178.5	+	3	1197	c.934C>A	c.(934-936)Cga>Aga	p.R312R	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TGACCATCAGCGAGTTCACAC	0.448000													4	116					3.59834e-05	4.34899e-05	0.001168	1	0
STAG2	10735	broad.mit.edu	37	X	123217307	123217307	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:123217307G>A	ENST00000371160.1	+	29	3251	c.2961G>A	c.(2959-2961)ccG>ccA	p.P987P	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Silent_p.P987P|STAG2_ENST00000371145.3_Silent_p.P987P|STAG2_ENST00000354548.5_Silent_p.P918P|STAG2_ENST00000371144.3_Silent_p.P987P|STAG2_ENST00000218089.9_Silent_p.P987P			Q8N3U4	STAG2_HUMAN	stromal antigen 2	987					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGCCTAATCCGCAAGGGGAGA	0.318000													3	27					0	0	0.004672	0	0
NAV3	89795	broad.mit.edu	37	12	78444651	78444651	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:78444651C>G	ENST00000397909.2	+	11	2413	c.2240C>G	c.(2239-2241)gCa>gGa	p.A747G	NAV3_ENST00000536525.2_Missense_Mutation_p.A747G|NAV3_ENST00000266692.7_Missense_Mutation_p.A747G|NAV3_ENST00000228327.6_Missense_Mutation_p.A747G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	747						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTGGGCCAGGCATGTCCGCGA	0.562000										HNSCC(70;0.22)			5	92					0	0	0.000602	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75556676	75556676	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:75556676C>T	ENST00000604729.1	+	16	3475	c.3178C>T	c.(3178-3180)Cca>Tca	p.P1060S	ZSWIM8_ENST00000605216.1_Missense_Mutation_p.P1055S|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.P1022S|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.P1055S|NDST2_ENST00000456638.1_5'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.P1060S					zinc finger, SWIM-type containing 8																		GGCCCTGCAACCACTGACCTC	0.627000													7	111					0	0	0.001984	0	0
LEO1	123169	broad.mit.edu	37	15	52258551	52258551	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:52258551C>A	ENST00000299601.5	-	2	269	c.209G>T	c.(208-210)gGa>gTa	p.G70V	LEO1_ENST00000315141.5_Missense_Mutation_p.G70V	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	70	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		ATGTGAAGCTCCCTCGTCCTC	0.448000													23	470					1.2476e-16	2.10096e-16	0.006320	1	0
LARS	51520	broad.mit.edu	37	5	145523891	145523891	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:145523891C>A	ENST00000394434.2	-	18	1843	c.1677G>T	c.(1675-1677)agG>agT	p.R559S	LARS_ENST00000274562.9_Missense_Mutation_p.R532S|LARS_ENST00000545646.1_Missense_Mutation_p.R513S|LARS_ENST00000510191.1_Missense_Mutation_p.R505S	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	559					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTTCAAAATTCCTCCTGGTCT	0.363000													18	177					1.40151e-16	2.357e-16	0.010504	1	0
XIRP2	129446	broad.mit.edu	37	2	168102688	168102688	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:168102688C>T	ENST00000409195.1	+	9	4875	c.4786C>T	c.(4786-4788)Cag>Tag	p.Q1596*	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.Q1596*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.Q1374*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1421					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCTGAGATACAGAAAGAAGA	0.378000													23	217					0	0	0.003330	0	0
PKHD1	5314	broad.mit.edu	37	6	51774197	51774197	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:51774197A>G	ENST00000371117.3	-	40	6841	c.6566T>C	c.(6565-6567)gTt>gCt	p.V2189A	PKHD1_ENST00000340994.4_Missense_Mutation_p.V2189A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2189					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAGGACTGAACGATCACTCT	0.493000													32	744					0	0	0.010818	0	0
OR4C46	119749	broad.mit.edu	37	11	51515313	51515313	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:51515313T>A	ENST00000328188.1	+	1	32	c.32T>A	c.(31-33)gTt>gAt	p.V11D		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ACAGAGTTTGTTTTGCTGGGG	0.313000													24	141					0	0	0.005443	0	0
GHDC	84514	broad.mit.edu	37	17	40344424	40344424	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:40344424C>G	ENST00000301671.8	-	4	1165	c.724G>C	c.(724-726)Gag>Cag	p.E242Q	GHDC_ENST00000593209.1_Missense_Mutation_p.E242Q|GHDC_ENST00000414034.3_Missense_Mutation_p.E242Q|GHDC_ENST00000587427.1_Missense_Mutation_p.E242Q|GHDC_ENST00000436923.2_Missense_Mutation_p.E242Q|GHDC_ENST00000428494.2_Missense_Mutation_p.E203Q			Q8N2G8	GHDC_HUMAN	GH3 domain containing	242						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCTAGGGCCTCCCGGAGCTCA	0.662000													11	129					0	0	0.010729	0	0
EEF1E1	9521	broad.mit.edu	37	6	8080125	8080125	+	Nonstop_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:8080125A>G	ENST00000379715.5	-	4	579	c.523T>C	c.(523-525)Tag>Cag	p.*175Q	EEF1E1_ENST00000429723.2_Intron|EEF1E1-MUTED_ENST00000397456.2_Intron	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	0					negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					GACAGCTTCTAGTGGGAATTA	0.363000													6	163					0	0	0.003080	0	0
IRAK2	3656	broad.mit.edu	37	3	10283890	10283890	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:10283890G>T	ENST00000256458.4	+	13	1946	c.1856G>T	c.(1855-1857)aGc>aTc	p.S619I		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	619					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						AAAGTGGACAGCATTGAGCTC	0.448000													9	75					1.58986e-06	2.08732e-06	0.008291	1	0
FAM135B	51059	broad.mit.edu	37	8	139164761	139164761	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:139164761C>G	ENST00000395297.1	-	13	2127	c.1957G>C	c.(1957-1959)Gat>Cat	p.D653H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	653										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GACCTAATATCTAAGGGCTCC	0.483000										HNSCC(54;0.14)			11	227					0	0	0.010729	0	0
OSMR	9180	broad.mit.edu	37	5	38933523	38933523	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:38933523G>C	ENST00000274276.3	+	18	3319	c.2917G>C	c.(2917-2919)Gat>Cat	p.D973H		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	973					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TACCCTTTTAGATCCAGGTGA	0.498000													10	686					0	0	0.013537	0	0
SYT4	6860	broad.mit.edu	37	18	40850357	40850357	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:40850357A>T	ENST00000255224.3	-	4	1595	c.1227T>A	c.(1225-1227)tgT>tgA	p.C409*	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Nonsense_Mutation_p.C391*	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	409						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGGGGTAGTCACAGATCTCTT	0.493000													59	467					0	0	0.014410	0	0
PFN4	375189	broad.mit.edu	37	2	24342459	24342459	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:24342459T>C	ENST00000313213.4	-	4	720	c.349A>G	c.(349-351)Aca>Gca	p.T117A	PFN4_ENST00000465360.1_5'UTR	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	117					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCTCTCTGTGGCTTCCACA	0.483000													10	39					0	0	0.006214	0	0
KIF2B	84643	broad.mit.edu	37	17	51901520	51901520	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:51901520G>C	ENST00000268919.4	+	1	1282	c.1126G>C	c.(1126-1128)Gtc>Ctc	p.V376L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	376	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAAGCTGCAAGTCCTTGAGGA	0.468000													20	176					0	0	0.014323	0	0
HMCN1	83872	broad.mit.edu	37	1	186158653	186158653	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:186158653C>T	ENST00000271588.4	+	107	16780	c.16551C>T	c.(16549-16551)ctC>ctT	p.L5517L	HMCN1_ENST00000367492.2_Silent_p.L5400L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5517					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGTTCTGCCTCAAGAACTGTC	0.423000													5	280					0	0	0.001168	0	0
IGSF8	93185	broad.mit.edu	37	1	160064892	160064892	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:160064892T>A	ENST00000368086.1	-	2	425	c.209A>T	c.(208-210)gAg>gTg	p.E70V	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.E70V			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	70	Ig-like C2-type 1.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ATCTGGGGCCTCGGGCCTATA	0.587000													11	200					0	0	0.008291	0	0
HCK	3055	broad.mit.edu	37	20	30671745	30671745	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:30671745C>G	ENST00000534862.1	+	8	884	c.521C>G	c.(520-522)aCc>aGc	p.T174S	HCK_ENST00000375852.2_Missense_Mutation_p.T194S|HCK_ENST00000538448.1_Missense_Mutation_p.T173S|HCK_ENST00000518730.1_Missense_Mutation_p.T172S|HCK_ENST00000375862.2_Missense_Mutation_p.T193S|HCK_ENST00000520553.1_Missense_Mutation_p.T173S	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	194	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAGGGAGATACCGTGAAACAT	0.552000													11	56					0	0	0.010729	0	0
TAF15	8148	broad.mit.edu	37	17	34147178	34147178	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:34147178G>T	ENST00000588240.1	+	4	225	c.110G>T	c.(109-111)gGc>gTc	p.G37V	AC015849.13_ENST00000589356.1_RNA|AC015849.19_ENST00000588415.1_RNA|TAF15_ENST00000311979.3_Missense_Mutation_p.G37V|TAF15_ENST00000592237.1_5'UTR	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	37	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGCTATTCTGGCTATGGGCAA	0.343000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								11	152					4.68919e-08	6.62466e-08	0.008291	1	0
ZSWIM1	90204	broad.mit.edu	37	20	44512082	44512082	+	Missense_Mutation	SNP	G	G	T	rs45447691	byFrequency	TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:44512082G>T	ENST00000372523.1	+	2	946	c.851G>T	c.(850-852)cGt>cTt	p.R284L	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.R284L	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	284							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				TCTCTGTTCCGTTACATGCAG	0.537000													23	87					6.44725e-10	9.61379e-10	0.014323	1	0
SALL4	57167	broad.mit.edu	37	20	50407593	50407593	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:50407593C>G	ENST00000217086.4	-	2	1540	c.1429G>C	c.(1429-1431)Gtc>Ctc	p.V477L	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	477					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTACAAGGACAGGTTTGCTG	0.557000													27	109					0	0	0.004656	0	0
DRAP1	10589	broad.mit.edu	37	11	65687838	65687838	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:65687838G>T	ENST00000312515.2	+	4	479	c.234G>T	c.(232-234)caG>caT	p.Q78H	DRAP1_ENST00000376991.2_Missense_Mutation_p.Q78H|DRAP1_ENST00000527119.1_Missense_Mutation_p.Q34H|DRAP1_ENST00000532933.1_Missense_Mutation_p.Q58H	NM_006442.3	NP_006433.2	Q14919	NC2A_HUMAN	DR1-associated protein 1 (negative cofactor 2 alpha)	78					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	5				READ - Rectum adenocarcinoma(159;0.166)		AGCTGGAGCAGCAGTTTGACT	0.632000													10	82					0.00010058	0.000118833	0.013537	1	0
LAMA4	3910	broad.mit.edu	37	6	112471781	112471781	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:112471781A>T	ENST00000230538.7	-	17	2502	c.2105T>A	c.(2104-2106)cTa>cAa	p.L702Q	LAMA4_ENST00000424408.2_Missense_Mutation_p.L695Q|LAMA4_ENST00000389463.4_Missense_Mutation_p.L695Q|LAMA4_ENST00000522006.1_Missense_Mutation_p.L695Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	702	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTCCTTGCTAGGGCTCCACC	0.498000													29	129					0	0	0.012213	0	0
OR2T2	401992	broad.mit.edu	37	1	248616141	248616141	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:248616141C>A	ENST00000342927.3	+	1	65	c.43C>A	c.(43-45)Ctc>Atc	p.L15I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAACTTCGTCCTCACAGGCCT	0.502000													24	216					1.34996e-11	2.12329e-11	0.009718	1	0
ATP1A1	476	broad.mit.edu	37	1	116940601	116940601	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:116940601G>T	ENST00000537345.1	+	15	2428	c.2065G>T	c.(2065-2067)Gtg>Ttg	p.V689L	ATP1A1_ENST00000295598.5_Missense_Mutation_p.V689L|ATP1A1_ENST00000369496.4_Missense_Mutation_p.V658L	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	689					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	CACTGAGATAGTGTTTGCCAG	0.517000													15	241					2.23348e-06	2.89917e-06	0.004007	1	0
GABRA6	2559	broad.mit.edu	37	5	161119019	161119019	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:161119019C>G	ENST00000523217.1	+	8	1111	c.869C>G	c.(868-870)gCc>gGc	p.A290G	GABRA6_ENST00000274545.5_Missense_Mutation_p.A300G	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	300					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTGTCATATGCCACTGCCATG	0.423000										TCGA Ovarian(5;0.080)			11	237					0	0	0.013537	0	0
CDH12	1010	broad.mit.edu	37	5	21755777	21755777	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:21755777A>T	ENST00000382254.1	-	14	2894	c.1808T>A	c.(1807-1809)gTg>gAg	p.V603E	CDH12_ENST00000522262.1_Missense_Mutation_p.V563E|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.V603E|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	603	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AATTGCTTCCACATTACAAGA	0.413000										HNSCC(59;0.17)			14	316					0	0	0.004990	0	0
ACOT8	10005	broad.mit.edu	37	20	44477141	44477141	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:44477141G>A	ENST00000217455.4	-	3	526	c.436C>T	c.(436-438)Cca>Tca	p.P146S		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	146					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				TCTGGTGGTGGCACAGTGGGC	0.567000													5	295					0	0	0.004482	0	0
TRPC7	57113	broad.mit.edu	37	5	135602028	135602028	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:135602028G>T	ENST00000513104.1	-	5	1507	c.1225C>A	c.(1225-1227)Cga>Aga	p.R409R	TRPC7_ENST00000426057.2_Silent_p.R293R|TRPC7_ENST00000355180.3_Silent_p.R348R	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	409					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCTTCAAATCGGTCAGATGCA	0.428000													7	173					8.12818e-05	9.6303e-05	0.001984	1	0
FERMT3	83706	broad.mit.edu	37	11	63974949	63974949	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:63974949G>T	ENST00000279227.5	+	2	208	c.113G>T	c.(112-114)gGg>gTg	p.G38V	FERMT3_ENST00000345728.5_Missense_Mutation_p.G38V	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	38					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CGGGTCACTGGGGAGTCGCAC	0.652000													4	50					8.12818e-05	9.6303e-05	0.001984	1	0
WASF1	8936	broad.mit.edu	37	6	110422895	110422895	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:110422895G>C	ENST00000392589.1	-	10	2254	c.1418C>G	c.(1417-1419)tCt>tGt	p.S473C	WASF1_ENST00000392586.1_Missense_Mutation_p.S473C|WASF1_ENST00000392587.2_Missense_Mutation_p.S473C|WASF1_ENST00000359451.2_Missense_Mutation_p.S473C|WASF1_ENST00000392588.1_Missense_Mutation_p.S473C	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	473					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TGATGGAGGAGATGGAGGCAT	0.507000													27	208					0	0	0.008361	0	0
LOC81691	81691	broad.mit.edu	37	16	20856477	20856477	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:20856477G>T	ENST00000261377.6	+	18	2247	c.2038G>T	c.(2038-2040)Gcc>Tcc	p.A680S	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.A649S|AC004381.6_ENST00000564274.1_Missense_Mutation_p.A680S	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					GCACCTCCATGCCTGGCTCAG	0.562000													10	50					1.08611e-07	1.50577e-07	0.010729	1	0
LRRC32	2615	broad.mit.edu	37	11	76372248	76372248	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:76372248T>A	ENST00000407242.2	-	3	631	c.389A>T	c.(388-390)gAc>gTc	p.D130V	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.D130V|LRRC32_ENST00000404995.1_Missense_Mutation_p.D130V|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	130						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CCCAGACAGGTCCAGGGAGGT	0.682000													9	115					0	0	0.004007	0	0
NUPL2	11097	broad.mit.edu	37	7	23240332	23240332	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:23240332A>T	ENST00000258742.5	+	7	1499	c.1240A>T	c.(1240-1242)Aag>Tag	p.K414*		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	414	Interaction with GLE1.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AATTCCATTAAAGCCTCCACC	0.318000													6	117					0	0	0.001168	0	0
MAL	4118	broad.mit.edu	37	2	95715427	95715427	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:95715427C>A	ENST00000309988.4	+	3	472	c.363C>A	c.(361-363)caC>caA	p.H121Q	MAL_ENST00000349807.3_Intron|MAL_ENST00000354078.3_Missense_Mutation_p.H65Q|MAL_ENST00000353004.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	121	MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CCTACAGGCACTACCATGAAA	0.637000													13	142					4.3838e-07	5.96632e-07	0.001855	1	0
USP19	10869	broad.mit.edu	37	3	49153913	49153913	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:49153913C>T	ENST00000453664.1	-	8	1542	c.1224G>A	c.(1222-1224)gaG>gaA	p.E408E	USP19_ENST00000398888.2_Silent_p.E317E|USP19_ENST00000434032.2_Silent_p.E418E|USP19_ENST00000398898.2_Silent_p.E355E|USP19_ENST00000398892.3_Silent_p.E355E|USP19_ENST00000417901.1_Silent_p.E418E|USP19_ENST00000398896.1_Silent_p.E123E	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	317					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGAAGTCCTGCTCACGGAAAA	0.527000													8	127					0	0	0.008291	0	0
C4orf50	389197	broad.mit.edu	37	4	5961217	5961217	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:5961217G>A	ENST00000531445.1	-	7	2184	c.2138C>T	c.(2137-2139)cCa>cTa	p.P713L	C4orf50_ENST00000324058.5_Missense_Mutation_p.P239L			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	239										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						AGAGGGTGCTGGGACGTTATC	0.562000													15	143					0	0	0.002450	0	0
PPIL3	53938	broad.mit.edu	37	2	201747087	201747087	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:201747087C>A	ENST00000392283.4	-	4	418	c.150G>T	c.(148-150)atG>atT	p.M50I	PPIL3_ENST00000286175.8_Intron|PPIL3_ENST00000465823.1_Intron|PPIL3_ENST00000409361.1_Intron|PPIL3_ENST00000409449.1_Intron	NM_130906.2	NP_570981.1	Q9H2H8	PPIL3_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 3	50	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(1)|lung(2)	3						CTGTTTGAACCATGAAACCCT	0.343000													12	212					1.49906e-05	1.86533e-05	0.002450	1	0
EPHB6	2051	broad.mit.edu	37	7	142561850	142561850	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:142561850C>T	ENST00000392957.2	+	7	1079	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	EPHB6_ENST00000442129.1_Missense_Mutation_p.R98C|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	98						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGTGGAGCGGCGCGGGGCCCA	0.652000													6	334					0	0	0.001984	0	0
EPHA7	2045	broad.mit.edu	37	6	94066637	94066637	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:94066637C>T	ENST00000369303.4	-	5	1306	c.1122G>A	c.(1120-1122)tgG>tgA	p.W374*		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	374	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E375fs*14(2)|p.R371fs(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CGCCCTGCTCCCAACTGCACC	0.493000													5	70					0	0	0.000602	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913901	77913901	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:77913901G>T	ENST00000321110.1	-	2	312	c.17C>A	c.(16-18)gCa>gAa	p.A6E		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	6							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						ATAGGAGGCTGCTAAGTCCTC	0.468000													5	29					0.000602214	0.000681538	0.000602	1	0
APLNR	187	broad.mit.edu	37	11	57004323	57004323	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:57004323G>T	ENST00000606794.1	-	1	352	c.156C>A	c.(154-156)acC>acA	p.T52T		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	52						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TCCGAAACACGGTCCAGAGCA	0.612000													5	185					0.00116845	0.00129793	0.001168	1	0
HDDC2	51020	broad.mit.edu	37	6	125597332	125597332	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:125597332C>T	ENST00000398153.1	-	6	778	c.575G>A	c.(574-576)aGc>aAc	p.S192N	HDDC2_ENST00000368377.4_Missense_Mutation_p.S158N	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	192							metal ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		TATGTTAGTGCTTCTTTCTGC	0.408000													15	87					0	0	0.004007	0	0
MX2	4600	broad.mit.edu	37	21	42762541	42762541	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr21:42762541T>A	ENST00000330714.3	+	6	966	c.782T>A	c.(781-783)tTg>tAg	p.L261*	MX2_ENST00000543692.1_Intron	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	261					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				ACGATCAACTTGGTGGTGGTT	0.537000													21	231					0	0	0.010504	0	0
TRIML2	205860	broad.mit.edu	37	4	189025997	189025997	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:189025997C>G	ENST00000512729.1	-	2	503	c.129G>C	c.(127-129)atG>atC	p.M43I	TRIML2_ENST00000536972.1_Missense_Mutation_p.M93I|TRIML2_ENST00000326754.3_Missense_Mutation_p.M43I	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	43							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TGACCTGAATCATCGCCATTC	0.358000													6	174					0	0	0.001168	0	0
CD84	8832	broad.mit.edu	37	1	160535445	160535445	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:160535445G>T	ENST00000368054.3	-	2	172	c.137C>A	c.(136-138)cCa>cAa	p.P46Q	CD84_ENST00000368048.3_Missense_Mutation_p.P46Q|CD84_ENST00000311224.4_Missense_Mutation_p.P46Q|CD84_ENST00000368047.3_5'UTR|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Intron|CD84_ENST00000368051.3_Missense_Mutation_p.P46Q	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	46					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AACTTGCCGTGGTTCTTGGAT	0.448000													15	179					7.93312e-07	1.05691e-06	0.002450	1	0
ARHGEF4	50649	broad.mit.edu	37	2	131704167	131704167	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:131704167G>T	ENST00000409359.1	+	4	4152	c.2954G>T	c.(2953-2955)gGa>gTa	p.G985V	ARHGEF4_ENST00000525839.1_Missense_Mutation_p.G129V|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.G129V|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.G129V|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.G129V|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.G129V			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	129					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GCTCCAACGGGACTGAACCAC	0.527000													8	149					1.33987e-11	2.11005e-11	0.008291	1	0
SYNPO2	171024	broad.mit.edu	37	4	119951624	119951624	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:119951624C>A	ENST00000307142.4	+	4	1890	c.1694C>A	c.(1693-1695)cCc>cAc	p.P565H	SYNPO2_ENST00000434046.2_Missense_Mutation_p.P565H|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P565H|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	565						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGCCATGTTCCCCAACAGAAT	0.507000													10	130					5.16669e-11	7.92895e-11	0.010729	1	0
KIRREL	55243	broad.mit.edu	37	1	158064446	158064446	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:158064446G>T	ENST00000368172.1	+	11	1264	c.1252G>T	c.(1252-1254)Ggc>Tgc	p.G418C	KIRREL_ENST00000359209.6_Missense_Mutation_p.G604C|KIRREL_ENST00000360089.4_Missense_Mutation_p.G440C|KIRREL_ENST00000368173.3_Missense_Mutation_p.G620C|KIRREL_ENST00000416935.2_Missense_Mutation_p.G504C|KIRREL_ENST00000392272.2_Missense_Mutation_p.G501C			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	604	Ig-like C2-type 5.					integral to membrane		p.G440C(1)|p.G604C(1)|p.G620C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCCCACCAATGGCTACTACAA	0.627000													4	111					0.000602214	0.000681538	0.000602	1	0
DUSP10	11221	broad.mit.edu	37	1	221879589	221879589	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:221879589T>A	ENST00000366899.3	-	3	1269	c.1031A>T	c.(1030-1032)cAg>cTg	p.Q344L	DUSP10_ENST00000544095.1_Missense_Mutation_p.Q2L|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_Missense_Mutation_p.Q2L	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	344					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GTTCAGCCGCTGCATGGTGTC	0.567000													9	296					0	0	0.006122	0	0
ZNFX1	57169	broad.mit.edu	37	20	47865476	47865476	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:47865476G>A	ENST00000396105.1	-	14	4331	c.4085C>T	c.(4084-4086)cCt>cTt	p.P1362L	ZNFX1_ENST00000371752.1_Missense_Mutation_p.P1362L|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1362							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CACGGAACAAGGGACCATTTG	0.567000													15	63					0	0	0.004007	0	0
TTBK1	84630	broad.mit.edu	37	6	43227441	43227441	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:43227441G>A	ENST00000259750.4	+	12	1504	c.1421G>A	c.(1420-1422)aGg>aAg	p.R474K	TTBK1_ENST00000304139.5_Missense_Mutation_p.R423K	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	474						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CTACCTGAGAGGAGGTGGGTC	0.652000													7	12					0	0	0.003080	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169166	32169166	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:32169166C>A	ENST00000375023.3	-	22	4005	c.3867G>T	c.(3865-3867)ggG>ggT	p.G1289G		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1289					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACTCTGGGTCCCCATCTTCAG	0.632000													22	57					1.50039e-11	2.3395e-11	0.012319	1	0
TMEM108	66000	broad.mit.edu	37	3	133099998	133099998	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:133099998C>T	ENST00000515826.1	+	3	1566	c.1443C>T	c.(1441-1443)tcC>tcT	p.S481S	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Silent_p.S481S|TMEM108_ENST00000393130.3_Silent_p.S481S			Q6UXF1	TM108_HUMAN	transmembrane protein 108	481						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGCCCATCTCCTCCTGCTGTA	0.597000													21	89					0	0	0.012319	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162441	90162441	+	RNA	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:90162441G>T	ENST00000564451.1	+	0	1794				TUBB8P7_ENST00000567960.1_RNA																							TCAGGCGCAAGGCCTTCCTCC	0.502000													6	100					0.000157383	0.000184735	0.003080	1	0
DLX4	1748	broad.mit.edu	37	17	48051292	48051292	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:48051292G>T	ENST00000240306.3	+	3	1003	c.708G>T	c.(706-708)tcG>tcT	p.S236S	DLX4_ENST00000411890.2_Silent_p.S164S	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	236					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						TCCTGGCTTCGCCTCAGATGA	0.617000													11	42					2.27111e-07	3.11784e-07	0.013537	1	0
CYP4F11	57834	broad.mit.edu	37	19	16045104	16045104	+	Missense_Mutation	SNP	A	A	T	rs142973676		TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:16045104A>T	ENST00000326742.7	-	1	116	c.115T>A	c.(115-117)Tac>Aac	p.Y39N	CYP4F11_ENST00000402119.3_Missense_Mutation_p.Y39N|CYP4F11_ENST00000248041.7_Missense_Mutation_p.Y39N			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	39					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TAGAAGGTGTAGGTCCAGGCC	0.642000													6	29					0	0	0.001984	0	0
ABCC8	6833	broad.mit.edu	37	11	17450162	17450162	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:17450162C>G	ENST00000302539.4	-	13	1998	c.1873G>C	c.(1873-1875)Gcc>Ccc	p.A625P	ABCC8_ENST00000389817.3_Missense_Mutation_p.A625P	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	625					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TCATGGGGGGCACACTGCTCC	0.647000													5	76					0	0	0.008291	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103514784	103514784	+	Nonstop_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr13:103514784G>T	ENST00000602836.1	+	16	2561	c.2561G>T	c.(2560-2562)tGa>tTa	p.*854L	ERCC5_ENST00000355739.4_Missense_Mutation_p.D429Y	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										CGAGAACAGTGATGAAGGACT	0.483000													9	108					2.17888e-05	2.6848e-05	0.006214	1	0
ATP10A	57194	broad.mit.edu	37	15	25936934	25936934	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:25936934A>T	ENST00000356865.6	-	15	3204	c.3093T>A	c.(3091-3093)gaT>gaA	p.D1031E		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1031					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CATTGGCTCCATCACCTAGAA	0.478000													22	94					0	0	0.004656	0	0
C11orf53	341032	broad.mit.edu	37	11	111156581	111156581	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:111156581C>A	ENST00000280325.4	+	4	660	c.513C>A	c.(511-513)caC>caA	p.H171Q		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	171										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		AAGATCTGCACCACACTCCGG	0.622000													32	203					2.68265e-12	4.28342e-12	0.013726	1	0
ZFAND1	79752	broad.mit.edu	37	8	82626241	82626241	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:82626241C>A	ENST00000220669.5	-	6	410	c.392G>T	c.(391-393)tGg>tTg	p.W131L	ZFAND1_ENST00000519523.1_Missense_Mutation_p.W131L|ZFAND1_ENST00000517588.1_Missense_Mutation_p.W24L|ZFAND1_ENST00000521287.1_Missense_Mutation_p.W24L|ZFAND1_ENST00000521895.1_Missense_Mutation_p.W24L|ZFAND1_ENST00000522520.1_Missense_Mutation_p.W24L|ZFAND1_ENST00000523096.1_Missense_Mutation_p.W131L	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	131							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GGCACCTTTCCATCGTTTACT	0.348000													9	159					1.12685e-05	1.42321e-05	0.004482	1	0
ZNF385D	79750	broad.mit.edu	37	3	21466982	21466982	+	Splice_Site	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:21466982A>T	ENST00000281523.2	-	6	1371		c.e6+1			NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D							nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CGTGCTGTTTACCTGTTTAAG	0.403000													10	199					0	0	0.010729	0	0
KIF4B	285643	broad.mit.edu	37	5	154396933	154396933	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:154396933A>T	ENST00000435029.4	+	1	3674	c.3514A>T	c.(3514-3516)Atg>Ttg	p.M1172L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1172	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			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)			CCTGAAAGAGATGTGTGACAT	0.512000													6	84					0	0	0.001168	0	0
OR4D10	390197	broad.mit.edu	37	11	59245562	59245562	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:59245562C>A	ENST00000530162.1	+	1	717	c.660C>A	c.(658-660)gtC>gtA	p.V220V		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTACATAGTCATATTATCAT	0.488000													14	125					1.49906e-05	1.86533e-05	0.002450	1	0
TTN	7273	broad.mit.edu	37	2	179456349	179456349	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:179456349G>C	ENST00000589042.1	-	303	60421	c.60197C>G	c.(60196-60198)cCg>cGg	p.P20066R	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P18425R|TTN_ENST00000359218.5_Missense_Mutation_p.P11126R|TTN_ENST00000460472.2_Missense_Mutation_p.P11001R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P11193R|TTN_ENST00000342992.6_Missense_Mutation_p.P17498R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18425	Fibronectin type-III 45.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P17496Q(1)|p.P11126L(1)|p.P11001L(1)|p.P11193Q(1)|p.P17498Q(1)|p.P17498L(1)|p.P11193L(1)|p.P11001Q(1)|p.P11126Q(1)|p.P17496L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATTCTATCGGGATAGTTGT	0.333000													13	311					0	0	0.004007	0	0
AMER1	139285	broad.mit.edu	37	X	63412939	63412939	+	Silent	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:63412939T>C	ENST00000330258.3	-	2	500	c.228A>G	c.(226-228)ggA>ggG	p.G76G	AMER1_ENST00000403336.1_Silent_p.G76G|AMER1_ENST00000374869.3_Silent_p.G76G	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CTTTGCTCCGTCCCCCTCCAA	0.537000													3	143					0	0	0.004672	0	0
CDH17	1015	broad.mit.edu	37	8	95186170	95186170	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:95186170A>T	ENST00000027335.3	-	7	762	c.638T>A	c.(637-639)gTg>gAg	p.V213E	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.V213E	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	213	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATGTCCTTCACTGAGATCAC	0.448000													6	102					0	0	0.001168	0	0
COL6A6	131873	broad.mit.edu	37	3	130284196	130284196	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:130284196C>A	ENST00000358511.6	+	3	1051	c.1020C>A	c.(1018-1020)acC>acA	p.T340T	COL6A6_ENST00000453409.2_Silent_p.T340T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	340	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGCTGGTGACCCACCGAGATT	0.557000													23	319					3.73148e-12	5.94307e-12	0.007291	1	0
OAF	220323	broad.mit.edu	37	11	120096386	120096386	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:120096386G>T	ENST00000328965.4	+	2	761	c.248G>T	c.(247-249)cGg>cTg	p.R83L	OAF_ENST00000531220.1_Intron	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	83										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		AAGGTCTTCCGGGCCCTGATC	0.627000													7	188					0.000442599	0.000508647	0.006214	1	0
COL11A1	1301	broad.mit.edu	37	1	103544258	103544258	+	Silent	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:103544258T>C	ENST00000358392.2	-	3	761	c.444A>G	c.(442-444)ccA>ccG	p.P148P	COL11A1_ENST00000370096.3_Silent_p.P148P|COL11A1_ENST00000353414.4_Silent_p.P148P|COL11A1_ENST00000512756.1_Silent_p.P148P	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	148	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATAGTCTTCTGGGGCAGGTT	0.363000													6	125					0	0	0.006214	0	0
TRPV6	55503	broad.mit.edu	37	7	142574948	142574948	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:142574948G>A	ENST00000359396.3	-	4	679	c.434C>T	c.(433-435)gCc>gTc	p.A145V	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	145					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGTGGCTCTGGCAGAGACACT	0.617000													7	137					0	0	0.006214	0	0
DNAH7	56171	broad.mit.edu	37	2	196619063	196619063	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:196619063T>C	ENST00000312428.6	-	63	11862	c.11762A>G	c.(11761-11763)gAt>gGt	p.D3921G	DNAH7_ENST00000409063.1_Missense_Mutation_p.D404G	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3921					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCACTTACCATCCTCAGGAGG	0.418000													11	299					0	0	0.010729	0	0
CNGB1	1258	broad.mit.edu	37	16	57918246	57918246	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:57918246G>T	ENST00000564448.1	-	33	3620	c.3560C>A	c.(3559-3561)cCg>cAg	p.P1187Q	CNGB1_ENST00000251102.8_Missense_Mutation_p.P1193Q			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1193					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TGGAGACCCCGGGGGCTCGGG	0.741000													3	32					0.000602214	0.000681538	0.000602	1	0
KCNK17	89822	broad.mit.edu	37	6	39272314	39272314	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:39272314T>G	ENST00000453413.2	-	3	610	c.470A>C	c.(469-471)cAg>cCg	p.Q157P	KCNK17_ENST00000373231.4_Missense_Mutation_p.Q157P	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	157						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GTTTACTCCCTGCTGCATGAG	0.632000													27	554					0	0	0.005443	0	0
REG3A	5068	broad.mit.edu	37	2	79384813	79384813	+	Silent	SNP	G	G	T	rs146689461		TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:79384813G>T	ENST00000393878.1	-	4	599	c.345C>A	c.(343-345)ccC>ccA	p.P115P	REG3A_ENST00000409839.3_Silent_p.P115P|REG3A_ENST00000305165.2_Silent_p.P115P	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	115	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CTTCTCCATTGGGCTCGGTGC	0.552000													7	170					5.68852e-11	8.68755e-11	0.004482	1	0
THSD7B	80731	broad.mit.edu	37	2	138320876	138320876	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:138320876A>G	ENST00000409968.1	+	16	3402	c.3224A>G	c.(3223-3225)gAg>gGg	p.E1075G	THSD7B_ENST00000272643.3_Missense_Mutation_p.E1078G|THSD7B_ENST00000413152.2_Missense_Mutation_p.E1047G|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATCAACAATGAGCTGAGGTCC	0.453000													4	84					0	0	0.001168	0	0
OTOGL	283310	broad.mit.edu	37	12	80658872	80658872	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:80658872C>T	ENST00000458043.2	+	19	2085	c.2079C>T	c.(2077-2079)tgC>tgT	p.C693C	OTOGL_ENST00000547103.1_Silent_p.C693C	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATCAGCTATGCCGCCACGATG	0.522000													5	184					0	0	0.000602	0	0
C9	735	broad.mit.edu	37	5	39341788	39341788	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:39341788G>T	ENST00000263408.4	-	3	293	c.198C>A	c.(196-198)agC>agA	p.S66R	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	66	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGACCTCAATGCTTCTTGAAC	0.443000													18	137					4.75885e-15	7.84651e-15	0.004990	1	0
SAMD7	344658	broad.mit.edu	37	3	169654209	169654209	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:169654209T>C	ENST00000428432.2	+	8	1513	c.1124T>C	c.(1123-1125)cTa>cCa	p.L375P	SAMD7_ENST00000335556.3_Missense_Mutation_p.L375P	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	375	SAM.									NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GGATTAAAGCTAGGGCCGGCA	0.333000													42	278					0	0	0.013114	0	0
TPO	7173	broad.mit.edu	37	2	1500511	1500511	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:1500511G>T	ENST00000345913.4	+	13	2451	c.2360G>T	c.(2359-2361)tGg>tTg	p.W787L	TPO_ENST00000329066.4_Missense_Mutation_p.W787L|TPO_ENST00000337415.3_Missense_Mutation_p.W787L|TPO_ENST00000346956.3_Missense_Mutation_p.W787L|TPO_ENST00000382198.1_Missense_Mutation_p.W614L|TPO_ENST00000382201.3_Missense_Mutation_p.W730L|TPO_ENST00000349624.3_Missense_Mutation_p.W614L|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	787	Sushi.				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CAGGAAGGATGGGATTTCCAG	0.512000													4	130					1.23904e-05	1.55095e-05	0.000602	1	0
STAC	6769	broad.mit.edu	37	3	36422208	36422208	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:36422208C>T	ENST00000273183.3	+	1	373	c.73C>T	c.(73-75)Ccg>Tcg	p.P25S	STAC_ENST00000457375.2_Missense_Mutation_p.P25S|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	25					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CGCCGAGCAACCGCCCTCTCC	0.672000													4	14					0	0	0.001984	0	0
WNT3A	89780	broad.mit.edu	37	1	228210455	228210455	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:228210455C>A	ENST00000284523.1	+	2	237	c.159C>A	c.(157-159)ctC>ctA	p.L53L	WNT3A_ENST00000366753.2_Silent_p.L53L	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	53					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CCAAGCAGCTCCGCTTCTGCA	0.652000													5	43					3.59834e-05	4.34899e-05	0.001168	1	0
RP1L1	94137	broad.mit.edu	37	8	10469636	10469636	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:10469636G>T	ENST00000382483.3	-	4	2195	c.1972C>A	c.(1972-1974)Cga>Aga	p.R658R		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	658					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)		GGGGCCACTCGGCCAAGGCCA	0.632000													12	97					4.3838e-07	5.96632e-07	0.001855	1	0
OR52N4	390072	broad.mit.edu	37	11	5776868	5776868	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:5776868A>G	ENST00000317254.3	+	1	946	c.898A>G	c.(898-900)Aaa>Gaa	p.K300E	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K300E(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GGTGAAAACCAAACAGATACG	0.443000													10	200					0	0	0.008291	0	0
TSPYL6	388951	broad.mit.edu	37	2	54482526	54482526	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:54482526C>A	ENST00000317802.7	-	1	883	c.763G>T	c.(763-765)Gct>Tct	p.A255S	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	255					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TGGCGGAAAGCAGTGACCCAG	0.532000													10	148					6.40141e-05	7.66349e-05	0.010729	1	0
KCND2	3751	broad.mit.edu	37	7	119915394	119915394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:119915394C>A	ENST00000331113.4	+	1	1673	c.708C>A	c.(706-708)tgC>tgA	p.C236*		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	236					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					ACACGGCCTGCGTCATGATCT	0.542000													4	62					0.00024832	0.000289592	0.009096	1	0
USH2A	7399	broad.mit.edu	37	1	216019177	216019177	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:216019177G>C	ENST00000366943.2	-	45	9430	c.9044C>G	c.(9043-9045)aCt>aGt	p.T3015S	USH2A_ENST00000307340.3_Missense_Mutation_p.T3015S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3015	Fibronectin type-III 16.				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)		CCCATCGCAAGTGGTTGCATG	0.458000										HNSCC(13;0.011)			20	138					0	0	0.002780	0	0
CUL3	8452	broad.mit.edu	37	2	225362547	225362547	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:225362547T>A	ENST00000264414.4	-	12	1968	c.1630A>T	c.(1630-1632)Agt>Tgt	p.S544C	CUL3_ENST00000344951.4_Missense_Mutation_p.S478C|CUL3_ENST00000409777.1_Missense_Mutation_p.S520C|CUL3_ENST00000409096.1_Missense_Mutation_p.S520C	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	544					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGTCGACCACTGTGTTTGGCT	0.363000													9	191					0	0	0.008291	0	0
ACAN	176	broad.mit.edu	37	15	89386832	89386832	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:89386832C>T	ENST00000439576.2	+	6	1378	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	ACAN_ENST00000561243.1_Missense_Mutation_p.T335M|ACAN_ENST00000558207.1_Missense_Mutation_p.T335M|ACAN_ENST00000559004.1_Missense_Mutation_p.T335M|ACAN_ENST00000352105.7_Missense_Mutation_p.T335M	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	335					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCCAACCAGACGGGCTACCCC	0.657000													8	32					0	0	0.006214	0	0
XDH	7498	broad.mit.edu	37	2	31602819	31602819	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:31602819C>G	ENST00000379416.3	-	13	1204	c.1156G>C	c.(1156-1158)Gac>Cac	p.D386H		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	386	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AAGGTGTGGTCCATCTGGACA	0.542000													30	192					0	0	0.003271	0	0
ITGA8	8516	broad.mit.edu	37	10	15614333	15614333	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:15614333G>A	ENST00000378076.3	-	25	2867	c.2514C>T	c.(2512-2514)acC>acT	p.T838T		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	838					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCTCCAGGATGGTGTCACTGA	0.448000													33	136					0	0	0.013726	0	0
RIPK3	11035	broad.mit.edu	37	14	24808382	24808382	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:24808382C>A	ENST00000216274.5	-	3	528	c.310G>T	c.(310-312)Ggg>Tgg	p.G104W		NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	104	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TGCAGCAGCCCCGACAAGGAG	0.587000													9	65					5.16669e-11	7.92895e-11	0.010729	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5182313	5182313	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:5182313C>A	ENST00000274181.7	+	4	796	c.658C>A	c.(658-660)Ctg>Atg	p.L220M	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.L220M	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	220					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGTGAGGTCCTGGTGACCTC	0.592000													26	77					3.28513e-13	5.31257e-13	0.003954	1	0
DNAH9	1770	broad.mit.edu	37	17	11607656	11607656	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:11607656T>G	ENST00000262442.3	+	25	5356	c.5288T>G	c.(5287-5289)aTg>aGg	p.M1763R	DNAH9_ENST00000454412.2_Missense_Mutation_p.M1763R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1763	Stem (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)		CTTATCACCATGCTGATTGGC	0.512000													14	128					0	0	0.003163	0	0
LYRM5	144363	broad.mit.edu	37	12	25357145	25357145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:25357145C>T	ENST00000557540.2	+	3	335	c.166C>T	c.(166-168)Cag>Tag	p.Q56*	LYRM5_ENST00000556402.1_3'UTR|LYRM5_ENST00000556885.1_Nonsense_Mutation_p.Q56*|LYRM5_ENST00000556927.1_Nonsense_Mutation_p.Q56*|LYRM5_ENST00000556351.1_Nonsense_Mutation_p.Q56*|LYRM5_ENST00000553788.1_Intron|LYRM5_ENST00000381356.4_Nonsense_Mutation_p.Q58*|LYRM5_ENST00000555711.1_3'UTR			Q6IPR1	LYRM5_HUMAN	LYR motif containing 5	56										large_intestine(3)	3	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)			ACTTATTGCACAGGGCGAATT	0.338000													6	92					0	0	0.001168	0	0
IQUB	154865	broad.mit.edu	37	7	123143294	123143294	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:123143294G>C	ENST00000466202.1	-	4	1232	c.656C>G	c.(655-657)aCt>aGt	p.T219S	IQUB_ENST00000324698.6_Missense_Mutation_p.T219S|IQUB_ENST00000488987.1_5'UTR|IQUB_ENST00000434450.1_Missense_Mutation_p.T219S			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	219										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AGAGACATCAGTTAATCCATC	0.358000													13	488					0	0	0.003163	0	0
FHL1	2273	broad.mit.edu	37	X	135290120	135290120	+	Splice_Site	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:135290120G>A	ENST00000543669.1	+	4	1212	c.501_splice	c.e4+1	p.K167_splice	FHL1_ENST00000370683.1_Splice_Site_p.K183_splice|FHL1_ENST00000394155.2_Splice_Site_p.K167_splice|FHL1_ENST00000370690.3_Splice_Site_p.K167_splice|FHL1_ENST00000370676.3_Splice_Site_p.K183_splice|FHL1_ENST00000394153.2_Splice_Site_p.K167_splice|FHL1_ENST00000539015.1_Splice_Site_p.K196_splice|FHL1_ENST00000535737.1_Splice_Site_p.K167_splice|FHL1_ENST00000345434.3_Splice_Site_p.K167_splice	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	167	LIM zinc-binding 3.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					AGTGCAACAAGGTATGCTTTC	0.483000													9	84					0	0	0.004482	0	0
NLRP5	126206	broad.mit.edu	37	19	56544055	56544055	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:56544055G>A	ENST00000390649.3	+	8	2355	c.2355G>A	c.(2353-2355)caG>caA	p.Q785Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	785						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)		ACCTGCGGCAGCTGGACCTGG	0.577000													11	33					0	0	0.010729	0	0
ASTN2	23245	broad.mit.edu	37	9	119737578	119737578	+	Translation_Start_Site	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr9:119737578T>A	ENST00000361477.3	-	0	1745				ASTN2_ENST00000313400.4_Missense_Mutation_p.S600C|ASTN2_ENST00000361209.2_Missense_Mutation_p.S549C|ASTN2_ENST00000373996.3_Missense_Mutation_p.S596C			O75129	ASTN2_HUMAN	astrotactin 2							integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACCACAAAGCTTTTGCTGACA	0.552000													32	162					0	0	0.010818	0	0
CACNA1I	8911	broad.mit.edu	37	22	40078528	40078528	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr22:40078528C>A	ENST00000336649.4	+	38	5710	c.5710C>A	c.(5710-5712)Cgt>Agt	p.R1904S	CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1863S|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1898S|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1898S|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1863S|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1863S			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1898					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGAGCCCATGCGTGTGGGAGA	0.592000													9	60					0.00829132	0.00889714	0.008291	1	0
GFRA1	2674	broad.mit.edu	37	10	117885056	117885056	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:117885056G>A	ENST00000439649.3	-	5	798	c.431C>T	c.(430-432)cCc>cTc	p.P144L	GFRA1_ENST00000369236.1_Missense_Mutation_p.P144L|GFRA1_ENST00000355422.6_Missense_Mutation_p.P149L|GFRA1_ENST00000544592.1_Missense_Mutation_p.P28L	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	149					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GTTCCCTTTGGGAATGTGCTC	0.522000													4	31					0	0	0.009096	0	0
MEFV	4210	broad.mit.edu	37	16	3304325	3304325	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:3304325G>C	ENST00000219596.1	-	2	782	c.743C>G	c.(742-744)tCt>tGt	p.S248C	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	248					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CTCCCCTGTAGAAATGGTGAC	0.612000													4	91					0	0	0.001168	0	0
CSMD1	64478	broad.mit.edu	37	8	3263598	3263598	+	Silent	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:3263598T>A	ENST00000602557.1	-	16	2775	c.2220A>T	c.(2218-2220)atA>atT	p.I740I	CSMD1_ENST00000537824.1_Silent_p.I739I|CSMD1_ENST00000400186.3_Silent_p.I740I|CSMD1_ENST00000539096.1_Silent_p.I739I|CSMD1_ENST00000542608.1_Silent_p.I739I|CSMD1_ENST00000602723.1_Silent_p.I740I|CSMD1_ENST00000520002.1_Silent_p.I740I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	740	Sushi 4.					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)		CGTCTTGCAGTATGCAGGTAA	0.552000													11	59					0	0	0.010729	0	0
WIF1	11197	broad.mit.edu	37	12	65462665	65462665	+	Silent	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:65462665T>A	ENST00000286574.4	-	4	791	c.417A>T	c.(415-417)ccA>ccT	p.P139P		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	139	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TTCCAAGACATGGGAAACCAA	0.373000			T	HMGA2	pleomorphic salivary gland adenoma								15	153					0	0	0.004990	0	0
SLC4A8	9498	broad.mit.edu	37	12	51852413	51852413	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:51852413T>A	ENST00000453097.2	+	7	1051	c.834T>A	c.(832-834)caT>caA	p.H278Q	SLC4A8_ENST00000535225.2_Missense_Mutation_p.H225Q|SLC4A8_ENST00000358657.3_Missense_Mutation_p.H305Q|SLC4A8_ENST00000514353.3_Missense_Mutation_p.H225Q|SLC4A8_ENST00000394856.1_Missense_Mutation_p.H225Q	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	278					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ATTGTGAACATAGTCCTGTGG	0.403000													14	313					0	0	0.002450	0	0
ZNF711	7552	broad.mit.edu	37	X	84526752	84526752	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:84526752G>T	ENST00000360700.4	+	10	3228	c.2342G>T	c.(2341-2343)tGt>tTt	p.C781F	ZNF711_ENST00000395402.1_Missense_Mutation_p.C743F|ZNF711_ENST00000276123.3_Missense_Mutation_p.C735F|ZNF711_ENST00000373165.3_Missense_Mutation_p.C735F|ZNF711_ENST00000542798.1_Missense_Mutation_p.C577F			Q9Y462	ZN711_HUMAN	zinc finger protein 711	735					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CCACACAGGTGTGAATTCTGC	0.358000													5	116					1.23904e-05	1.55095e-05	0.000602	1	0
MUC16	94025	broad.mit.edu	37	19	9061000	9061000	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:9061000G>C	ENST00000397910.4	-	3	26649	c.26446C>G	c.(26446-26448)Cac>Gac	p.H8816D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8818	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						GCAGCTGAGTGAGTTCCTGGC	0.532000													22	146					0	0	0.014323	0	0
SLC5A7	60482	broad.mit.edu	37	2	108609531	108609531	+	Silent	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:108609531T>A	ENST00000264047.2	+	4	672	c.396T>A	c.(394-396)atT>atA	p.I132I	SLC5A7_ENST00000540517.1_Silent_p.I27I|SLC5A7_ENST00000409059.1_Silent_p.I132I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	132					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TCCTGTTTATTCCTGCACTGA	0.453000													26	164					0	0	0.003330	0	0
CALCRL	10203	broad.mit.edu	37	2	188248002	188248002	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:188248002G>T	ENST00000409998.1	-	6	863	c.82C>A	c.(82-84)Cct>Act	p.P28T	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.P28T|CALCRL_ENST00000410068.1_Missense_Mutation_p.P28T			Q16602	CALRL_HUMAN	calcitonin receptor-like	28						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GAGTCCTCAGGACTCTCTTCT	0.348000													10	119					1.76689e-08	2.51872e-08	0.006214	1	0
SPATA32	124783	broad.mit.edu	37	17	43332557	43332557	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:43332557C>T	ENST00000543122.1	-	6	1710	c.929G>A	c.(928-930)aGg>aAg	p.R310K	MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|SPATA32_ENST00000331780.4_Missense_Mutation_p.R331K|MAP3K14-AS1_ENST00000590100.1_RNA					spermatogenesis associated 32																		GATGGTGGCCCTCTTGATCCC	0.562000													7	115					0	0	0.001984	0	0
OR4C46	119749	broad.mit.edu	37	11	51515316	51515316	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:51515316T>G	ENST00000328188.1	+	1	35	c.35T>G	c.(34-36)tTg>tGg	p.L12W		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GAGTTTGTTTTGCTGGGGCTT	0.318000													29	143					0	0	0.012213	0	0
GPR37	2861	broad.mit.edu	37	7	124387020	124387020	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:124387020C>G	ENST00000303921.2	-	2	2051	c.1401G>C	c.(1399-1401)agG>agC	p.R467S		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	467						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGCGGATTTTCCTCGCAGTCA	0.478000													10	153					0	0	0.013537	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128839071	128839071	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:128839071T>A	ENST00000310343.9	-	22	5994	c.5995A>T	c.(5995-5997)Agg>Tgg	p.R1999W	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1650W|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1650W	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1999	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGGGGTCCCTCTCCACGTTC	0.532000													6	121					0	0	0.001984	0	0
ZNF217	7764	broad.mit.edu	37	20	52193540	52193540	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:52193540C>A	ENST00000371471.2	-	4	2188	c.1763G>T	c.(1762-1764)gGc>gTc	p.G588V	ZNF217_ENST00000302342.3_Missense_Mutation_p.G588V			O75362	ZN217_HUMAN	zinc finger protein 217	588					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GACAGCGCTGCCCAGAACATT	0.423000													20	120					1.2644e-06	1.67237e-06	0.010504	1	0
PCDH17	27253	broad.mit.edu	37	13	58209199	58209199	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr13:58209199G>A	ENST00000377918.3	+	1	2545	c.2519G>A	c.(2518-2520)gGg>gAg	p.G840E		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	840					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACCGGACAAGGGACTAATGCA	0.557000													6	26					0	0	0.001984	0	0
ASB5	140458	broad.mit.edu	37	4	177136781	177136781	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:177136781C>A	ENST00000296525.3	-	7	1073	c.960G>T	c.(958-960)acG>acT	p.T320T	ASB5_ENST00000512254.1_Silent_p.T267T	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	320	SOCS box.				intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TCTTCAGTAACGTTGGCAGCT	0.363000													7	74					8.12818e-05	9.6303e-05	0.001984	1	0
TFB2M	64216	broad.mit.edu	37	1	246729385	246729385	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:246729385C>A	ENST00000366514.4	-	1	241	c.56G>T	c.(55-57)gGc>gTc	p.G19V	TFB2M_ENST00000544618.1_Missense_Mutation_p.G19V	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	19					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			GCGACCAGCGCCCGCCAAGGC	0.617000													4	33					0.00909568	0.0096699	0.009096	1	0
ZP1	22917	broad.mit.edu	37	11	60638431	60638431	+	Splice_Site	SNP	T	T	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:60638431T>G	ENST00000278853.5	+	5	828	c.826_splice	c.e5-1	p.A276_splice		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	276					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TTGTCCCAGCTACTGTCCAGT	0.562000													4	191					0	0	0.009096	0	0
FAT3	120114	broad.mit.edu	37	11	92087706	92087706	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:92087706C>T	ENST00000298047.6	+	1	2445	c.2428C>T	c.(2428-2430)Cag>Tag	p.Q810*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.Q810*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.Q660*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.Q810*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	810	Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGTAATCCACAGAAATCGTC	0.413000										TCGA Ovarian(4;0.039)			8	134					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179485619	179485619	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:179485619A>T	ENST00000589042.1	-	247	45942	c.45718T>A	c.(45718-45720)Tgg>Agg	p.W15240R	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W13599R|TTN_ENST00000359218.5_Missense_Mutation_p.W6300R|TTN_ENST00000460472.2_Missense_Mutation_p.W6175R|TTN_ENST00000342175.6_Missense_Mutation_p.W6367R|TTN_ENST00000342992.6_Missense_Mutation_p.W12672R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13599	Fibronectin type-III 11.						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)			TTTCTGAACCATTTGGCTTTG	0.398000													4	111					0	0	0.001984	0	0
ECE1	1889	broad.mit.edu	37	1	21605684	21605684	+	Splice_Site	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:21605684T>C	ENST00000415912.2	-	3	357	c.232_splice	c.e3+1	p.R78_splice	ECE1_ENST00000436918.2_Splice_Site_p.R94_splice|ECE1_ENST00000264205.6_Splice_Site_p.R91_splice|ECE1_ENST00000357071.4_Splice_Site_p.R82_splice|ECE1_ENST00000374893.6_Splice_Site_p.R94_splice	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	94					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGGCACCTACTTGTCTGGTAC	0.647000													6	34					0	0	0.003080	0	0
NXPE2	120406	broad.mit.edu	37	11	114569357	114569357	+	Silent	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:114569357G>C	ENST00000375475.5	+	3	821	c.723G>C	c.(721-723)ctG>ctC	p.L241L	NXPE2_ENST00000389586.4_Silent_p.L241L					neurexophilin and PC-esterase domain family, member 2																		ATGCTGAACTGTGCCAGTACA	0.488000													22	116					0	0	0.012319	0	0
CAMK4	814	broad.mit.edu	37	5	110818567	110818567	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:110818567G>C	ENST00000282356.4	+	10	1311	c.913G>C	c.(913-915)Gcc>Ccc	p.A305P	CAMK4_ENST00000512453.1_Missense_Mutation_p.A305P|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	305	Autoinhibitory domain.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGGTAAAGCAGCCAATTTTGT	0.383000													3	88					0	0	0.004672	0	0
SLC4A3	6508	broad.mit.edu	37	2	220505321	220505321	+	Splice_Site	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:220505321G>T	ENST00000358055.3	+	21	3959	c.3447_splice	c.e21+1	p.K1149_splice	SLC4A3_ENST00000273063.6_Splice_Site_p.K1176_splice|SLC4A3_ENST00000373762.3_Splice_Site_p.K1176_splice|SLC4A3_ENST00000317151.3_Splice_Site_p.K1149_splice|SLC4A3_ENST00000373760.2_Splice_Site_p.K1149_splice			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1149	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGTGACCAAGGTAGGGCCGG	0.577000													5	96					0.000602214	0.000681538	0.000602	1	0
NELL1	4745	broad.mit.edu	37	11	20869131	20869131	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:20869131A>G	ENST00000298925.5	+	5	575	c.422A>G	c.(421-423)tAt>tGt	p.Y141C	NELL1_ENST00000357134.5_Missense_Mutation_p.Y113C|NELL1_ENST00000532434.1_Missense_Mutation_p.Y113C|NELL1_ENST00000325319.5_Intron			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	113	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACATACAGCTATTTTGAACTG	0.438000													6	64					0	0	0.001168	0	0
RTTN	25914	broad.mit.edu	37	18	67834262	67834262	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:67834262C>A	ENST00000255674.6	-	13	1981	c.1695G>T	c.(1693-1695)gaG>gaT	p.E565D	RTTN_ENST00000437017.1_Missense_Mutation_p.E565D|RTTN_ENST00000454359.1_Missense_Mutation_p.E565D	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	565							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGAGATTCTTCTCTCCCTACA	0.388000													6	65					2.0095e-06	2.6219e-06	0.001984	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113519888	113519888	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:113519888C>T	ENST00000284601.3	-	4	1327	c.1259G>A	c.(1258-1260)gGa>gAa	p.G420E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	420					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACTAGTATCTCCCAATGATGG	0.398000													14	469					0	0	0.002450	0	0
OPN5	221391	broad.mit.edu	37	6	47763181	47763181	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:47763181C>T	ENST00000489301.2	+	4	723	c.638C>T	c.(637-639)gCt>gTt	p.A213V	OPN5_ENST00000371211.2_Missense_Mutation_p.A213V|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.A213V			Q6U736	OPN5_HUMAN	opsin 5	213					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.A213V(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CTCCCAACGGCTGTGATCGTG	0.542000													31	420					0	0	0.008361	0	0
PPP1R10	5514	broad.mit.edu	37	6	30569931	30569931	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:30569931T>C	ENST00000376511.2	-	19	3047	c.2495A>G	c.(2494-2496)cAc>cGc	p.H832R		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	832	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						AGGGCCTTCGTGGGGGCGATG	0.682000													8	332					0	0	0.013537	0	0
INTU	27152	broad.mit.edu	37	4	128565197	128565197	+	Missense_Mutation	SNP	G	G	T	rs146720875		TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:128565197G>T	ENST00000335251.5	+	2	771	c.668G>T	c.(667-669)gGt>gTt	p.G223V	INTU_ENST00000296461.5_Missense_Mutation_p.G223V	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	223	PDZ.									breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ATGAAGAGCGGTCAGGTACTC	0.483000													16	173					2.23348e-06	2.89917e-06	0.004007	1	0
TRBV11-2	28581	broad.mit.edu	37	7	142197710	142197710	+	RNA	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:142197710C>G	ENST00000471935.1	-	0	267																											CACCGTTATTCTGAAACTGAA	0.483000													5	176					0	0	0.001168	0	0
CTNNA1	1495	broad.mit.edu	37	5	138160263	138160263	+	Silent	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:138160263A>G	ENST00000302763.7	+	6	723	c.633A>G	c.(631-633)agA>agG	p.R211R	CTNNA1_ENST00000518825.1_Silent_p.R211R|CTNNA1_ENST00000355078.5_Silent_p.R108R	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	211	Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGCAGCTAGAGGAATCCTGC	0.458000													7	62					0	0	0.003080	0	0
CPLX2	10814	broad.mit.edu	37	5	175306002	175306002	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:175306002G>A	ENST00000359546.4	+	4	766	c.123G>A	c.(121-123)ctG>ctA	p.L41L	CPLX2_ENST00000393745.3_Silent_p.L41L|CPLX2_ENST00000515094.1_Silent_p.L41L|CPLX2_ENST00000512824.1_Silent_p.L41L	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	41	Interaction with the SNARE complex (By similarity).				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			aggaggcgctgcggcagcagg	0.667000													6	17					0	0	0.001984	0	0
PLXNA4	91584	broad.mit.edu	37	7	131888117	131888117	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:131888117C>T	ENST00000359827.3	-	11	3322	c.2360G>A	c.(2359-2361)gGg>gAg	p.G787E	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G787E			Q9HCM2	PLXA4_HUMAN	plexin A4	787						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTTGAAGTGCCCATTCCACAC	0.567000													13	240					0	0	0.004007	0	0
DDX23	9416	broad.mit.edu	37	12	49237828	49237828	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:49237828C>A	ENST00000308025.3	-	3	294	c.215G>T	c.(214-216)cGa>cTa	p.R72L	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	72	Arg-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TTTGTGCCGTCGTTCTCTGGA	0.483000													16	184					5.03518e-11	7.75541e-11	0.007413	1	0
OR9A2	135924	broad.mit.edu	37	7	142723539	142723539	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:142723539G>A	ENST00000350513.2	-	1	743	c.681C>T	c.(679-681)gcC>gcT	p.A227A		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TCCGGCCAGAGGCTGACGGGA	0.468000													26	114					0	0	0.013726	0	0
KIF2B	84643	broad.mit.edu	37	17	51901406	51901406	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:51901406C>T	ENST00000268919.4	+	1	1168	c.1012C>T	c.(1012-1014)Ctc>Ttc	p.L338F		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	338	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGATGTCTTTCTCCTGCTCAG	0.468000													26	220					0	0	0.006320	0	0
FCRL6	343413	broad.mit.edu	37	1	159785243	159785243	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:159785243G>T	ENST00000321935.6	+	10	1280	c.1194G>T	c.(1192-1194)ggG>ggT	p.G398G	FCRL6_ENST00000392235.3_Silent_p.G296G|FCRL6_ENST00000368106.3_Silent_p.G391G|FCRL6_ENST00000339348.5_Intron			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	391						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TCACCGTGGGGAGAAAGGTGA	0.542000													21	159					6.44725e-10	9.61379e-10	0.014323	1	0
MBD1	4152	broad.mit.edu	37	18	47806388	47806388	+	Splice_Site	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:47806388C>A	ENST00000591416.1	-	2	407		c.e2-1		MBD1_ENST00000269468.5_Splice_Site|MBD1_ENST00000587605.1_Splice_Site|MBD1_ENST00000349085.2_Splice_Site|MBD1_ENST00000382948.5_Splice_Site|MBD1_ENST00000353909.3_Splice_Site|MBD1_ENST00000585672.1_Splice_Site|MBD1_ENST00000269471.5_Splice_Site|MBD1_ENST00000347968.3_Splice_Site|MBD1_ENST00000585595.1_Splice_Site|MBD1_ENST00000339998.6_Splice_Site|MBD1_ENST00000457839.2_Splice_Site|MBD1_ENST00000436910.1_Splice_Site|MBD1_ENST00000398493.1_Splice_Site|MBD1_ENST00000424334.2_Splice_Site|MBD1_ENST00000590208.1_Splice_Site			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1						negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CAGCAGTAGCCTGAAAGGGGG	0.607000													6	18					2.17888e-05	2.6848e-05	0.006214	1	0
RELN	5649	broad.mit.edu	37	7	103338398	103338398	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:103338398A>T	ENST00000424685.2	-	10	1204	c.1045T>A	c.(1045-1047)Ttg>Atg	p.L349M	RELN_ENST00000428762.1_Missense_Mutation_p.L349M|RELN_ENST00000343529.5_Missense_Mutation_p.L349M			P78509	RELN_HUMAN	reelin	349					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGATGATCAAGATGTTATCT	0.468000													22	625					0	0	0.004656	0	0
DACH2	117154	broad.mit.edu	37	X	85769355	85769355	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:85769355G>T	ENST00000373131.1	+	2	725	c.562G>T	c.(562-564)Gtc>Ttc	p.V188F	DACH2_ENST00000508860.1_Missense_Mutation_p.V34F|DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000373125.4_Missense_Mutation_p.V201F	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GACCCATGCAGTCCCAGGCCT	0.473000													4	45					1.024e-07	1.42907e-07	0.000602	1	0
MYBBP1A	10514	broad.mit.edu	37	17	4451565	4451565	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:4451565C>A	ENST00000254718.4	-	12	1903	c.1597G>T	c.(1597-1599)Ggc>Tgc	p.G533C	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.G533C			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	533	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TGGGTCTGGCCCGGTGCCTGC	0.617000													5	39					0.000157383	0.000184735	0.003080	1	0
NUP98	4928	broad.mit.edu	37	11	3793135	3793135	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:3793135C>A	ENST00000324932.7	-	7	1047	c.627G>T	c.(625-627)caG>caT	p.Q209H	NUP98_ENST00000397007.4_Missense_Mutation_p.Q209H|NUP98_ENST00000397004.4_Missense_Mutation_p.Q209H|NUP98_ENST00000359171.4_Missense_Mutation_p.Q209H|NUP98_ENST00000355260.3_Missense_Mutation_p.Q209H	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	209	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TCCTGTTAGCCTGATAATCCT	0.443000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								8	109					0.000274275	0.000316645	0.004482	1	0
ANK1	286	broad.mit.edu	37	8	41585513	41585513	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:41585513C>A	ENST00000396942.1	-	4	323	c.240G>T	c.(238-240)acG>acT	p.T80T	ANK1_ENST00000379758.2_Silent_p.T80T|ANK1_ENST00000347528.4_Silent_p.T80T|ANK1_ENST00000289734.7_Silent_p.T80T|ANK1_ENST00000396945.1_Silent_p.T80T|ANK1_ENST00000265709.8_Silent_p.T113T|ANK1_ENST00000352337.4_Silent_p.T80T			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	80	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGTGCAGGGCCGTGTTCCCCT	0.602000													5	123					0.000602214	0.000681538	0.000602	1	0
ADCY6	112	broad.mit.edu	37	12	49170045	49170045	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:49170045G>C	ENST00000307885.4	-	7	2318	c.1624C>G	c.(1624-1626)Ctc>Gtc	p.L542V	ADCY6_ENST00000550422.1_Missense_Mutation_p.L542V|ADCY6_ENST00000357869.3_Missense_Mutation_p.L542V|ADCY6_ENST00000552090.1_5'UTR	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	542					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGCTCCTTGAGGTACGCGTTG	0.637000													4	128					0	0	0.001984	0	0
MYH8	4626	broad.mit.edu	37	17	10303778	10303778	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:10303778T>C	ENST00000403437.2	-	27	3758	c.3664A>G	c.(3664-3666)Aag>Gag	p.K1222E	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1222					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTCTTCTCCTTCTCCAGCTTC	0.502000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				8	240					0	0	0.004482	0	0
OR10A6	390093	broad.mit.edu	37	11	7949838	7949838	+	Silent	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:7949838A>T	ENST00000309838.2	-	1	371	c.372T>A	c.(370-372)gcT>gcA	p.A124A		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCAAATTGCAGCAAATCGGT	0.368000													19	256					0	0	0.012319	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158980358	158980358	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:158980358G>A	ENST00000485419.1	+	4	346	c.177G>A	c.(175-177)gaG>gaA	p.E59E	IQCJ_ENST00000397832.2_Silent_p.E59E|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000451172.1_Silent_p.E59E|IQCJ_ENST00000481796.1_3'UTR|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.E32E|IQCJ_ENST00000482126.1_Silent_p.E32E	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN		0	Ser-rich.					cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						CATGGCGAGAGTACCTGCAGC	0.522000													11	145					0	0	0.003163	0	0
TRIML2	205860	broad.mit.edu	37	4	189026363	189026363	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:189026363C>A	ENST00000512729.1	-	1	384	c.10G>T	c.(10-12)Ggg>Tgg	p.G4W	TRIML2_ENST00000536972.1_Missense_Mutation_p.G54W|TRIML2_ENST00000326754.3_Missense_Mutation_p.G4W	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	4							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TCTTGTATCCCACACACCATG	0.473000													24	289					9.04412e-07	1.20113e-06	0.004656	1	0
TUBBP1	92755	broad.mit.edu	37	8	30209670	30209670	+	RNA	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:30209670G>C	ENST00000518096.1	+	0	282																											GCATCTCCGTGTACTACAGTG	0.562000													8	77					0	0	0.008291	0	0
HYAL4	23553	broad.mit.edu	37	7	123509102	123509102	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:123509102T>A	ENST00000223026.4	+	3	1413	c.775T>A	c.(775-777)Tat>Aat	p.Y259N	HYAL4_ENST00000476325.1_Missense_Mutation_p.Y259N	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	259					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TGCTGCTTTATATCCTTCTAT	0.463000													11	194					0	0	0.013537	0	0
SRPK2	6733	broad.mit.edu	37	7	104844089	104844089	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:104844089G>A	ENST00000357311.3	-	2	353	c.182C>T	c.(181-183)gCg>gTg	p.A61V	SRPK2_ENST00000393651.3_Missense_Mutation_p.A72V|SRPK2_ENST00000489828.1_Missense_Mutation_p.A61V	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	61					angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GCAGTAGTCCGCAGGGTCCTC	0.602000													46	222					0	0	0.014410	0	0
SATB1	6304	broad.mit.edu	37	3	18457508	18457508	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:18457508T>A	ENST00000338745.6	-	4	2240	c.506A>T	c.(505-507)cAg>cTg	p.Q169L	SATB1_ENST00000475083.1_5'UTR|SATB1_ENST00000454909.2_Missense_Mutation_p.Q169L|SATB1_ENST00000417717.2_Missense_Mutation_p.Q169L|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	169	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCTGTGTAACTGAATTTTCAA	0.408000													12	305					0	0	0.001855	0	0
EPB41L1	2036	broad.mit.edu	37	20	34761684	34761684	+	Splice_Site	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:34761684A>G	ENST00000338074.2	+	2	147		c.e2-1		EPB41L1_ENST00000441639.1_Intron|EPB41L1_ENST00000202028.5_Intron|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373950.2_Intron	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1						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)					ATGCCAATGCAGGCGTGCTGG	0.602000													8	83					0	0	0.004482	0	0
FANCB	2187	broad.mit.edu	37	X	14871184	14871184	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:14871184C>A	ENST00000398334.1	-	6	1570	c.1303G>T	c.(1303-1305)Gat>Tat	p.D435Y	FANCB_ENST00000324138.3_Missense_Mutation_p.D435Y	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	435					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GACGTATTATCATCTTTTCCT	0.289000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				14	86					3.41278e-10	5.1131e-10	0.004990	1	0
DUSP27	92235	broad.mit.edu	37	1	167096069	167096069	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:167096069C>T	ENST00000361200.2	+	6	1867	c.1701C>T	c.(1699-1701)agC>agT	p.S567S	DUSP27_ENST00000443333.1_Silent_p.S567S|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.S567S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	567					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.S567S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAGACAGCAGCGGTGAGCCCG	0.557000													15	143					0	0	0.007413	0	0
TFAP2B	7021	broad.mit.edu	37	6	50803948	50803948	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:50803948C>G	ENST00000263046.4	+	5	969	c.803C>G	c.(802-804)cCc>cGc	p.P268R	TFAP2B_ENST00000393655.3_Missense_Mutation_p.P259R			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	259					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CGGCTGTCGCCCCCTGAATGC	0.498000													29	87					0	0	0.008361	0	0
TMEM181	57583	broad.mit.edu	37	6	159028350	159028350	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:159028350C>T	ENST00000367090.3	+	8	1070	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	353					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TGTCTGTTCTCCTGCCTCTGC	0.488000													13	43					0	0	0.004990	0	0
PSPC1	55269	broad.mit.edu	37	13	20333521	20333521	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr13:20333521A>G	ENST00000338910.4	-	3	871	c.712T>C	c.(712-714)Ttt>Ctt	p.F238L		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	238	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TCATCATCAAACTGCTCCATG	0.358000													5	100					0	0	0.003080	0	0
KLF10	7071	broad.mit.edu	37	8	103663859	103663859	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:103663859G>A	ENST00000395884.3	-	3	1570	c.668C>T	c.(667-669)cCt>cTt	p.P223L	KLF10_ENST00000285407.6_Missense_Mutation_p.P234L	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	234					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CTCTGAGGAAGGCACAGAAAA	0.522000											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	49					0	0	0.006122	0	0
RGS22	26166	broad.mit.edu	37	8	101014462	101014462	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:101014462T>G	ENST00000360863.6	-	18	2952	c.2758A>C	c.(2758-2760)Aac>Cac	p.N920H	RGS22_ENST00000523287.1_Missense_Mutation_p.N739H|RGS22_ENST00000523437.1_Missense_Mutation_p.N908H	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	920	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GCTGGACTGTTGGGTCCAAAG	0.323000													4	134					0	0	0.001168	0	0
USP47	55031	broad.mit.edu	37	11	11942041	11942041	+	Splice_Site	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:11942041G>C	ENST00000339865.5	+	9	1777	c.1014_splice	c.e9+1	p.E338_splice	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Splice_Site_p.E426_splice|USP47_ENST00000527733.1_Splice_Site_p.E406_splice	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	426					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTGAAGATGAGGTAAATATTT	0.313000													7	87					0	0	0.003080	0	0
DIAPH3	81624	broad.mit.edu	37	13	60616851	60616851	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr13:60616851C>T	ENST00000400324.4	-	5	819	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R154Q|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R200Q|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R189Q|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R200Q|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R130Q|DIAPH3-AS1_ENST00000432995.1_RNA	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	200	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CAAAGACACTCGGAGAGACTC	0.413000													5	49					0	0	0.000602	0	0
ZNF626	199777	broad.mit.edu	37	19	20808073	20808073	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:20808073C>G	ENST00000601440.1	-	4	756	c.610G>C	c.(610-612)Gaa>Caa	p.E204Q	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CCACATTCTTCACATTTGTAG	0.363000													3	80					0	0	0.004672	0	0
CLCA4	22802	broad.mit.edu	37	1	87041101	87041101	+	Silent	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:87041101T>A	ENST00000370563.3	+	11	1812	c.1770T>A	c.(1768-1770)tcT>tcA	p.S590S	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	590						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CAAATTCTTCTGTGCCTCCAA	0.408000													24	235					0	0	0.014323	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138332	126138332	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:126138332G>T	ENST00000299308.3	+	9	2321	c.2313G>T	c.(2311-2313)aaG>aaT	p.K771N	TMEM132B_ENST00000535886.1_Missense_Mutation_p.K283N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	771						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTGTCAGAAGACCAAGAGGA	0.448000													8	152					0.00307968	0.00335892	0.003080	1	0
WBSCR17	64409	broad.mit.edu	37	7	70853323	70853323	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:70853323C>A	ENST00000333538.5	+	3	1159	c.525C>A	c.(523-525)gcC>gcA	p.A175A	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	175	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A175A(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGCACAGTGCCGTCAATCACA	0.547000													23	170					3.83957e-06	4.9534e-06	0.002780	1	0
WT1	7490	broad.mit.edu	37	11	32414252	32414252	+	Silent	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:32414252A>G	ENST00000332351.3	-	8	1583	c.1299T>C	c.(1297-1299)tcT>tcC	p.S433S	WT1_ENST00000379079.2_Silent_p.S221S|WT1_ENST00000448076.3_Silent_p.S433S|WT1_ENST00000530998.1_Silent_p.S204S	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	365					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GGTCTGAACGAGAAAACCTTC	0.443000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				11	112					0	0	0.003163	0	0
TNIK	23043	broad.mit.edu	37	3	170784088	170784088	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:170784088C>G	ENST00000436636.2	-	32	4231	c.3887G>C	c.(3886-3888)gGc>gCc	p.G1296A	TNIK_ENST00000460047.1_Missense_Mutation_p.G1233A|TNIK_ENST00000369326.5_Missense_Mutation_p.G1274A|TNIK_ENST00000357327.5_Missense_Mutation_p.G1267A|TNIK_ENST00000341852.6_Missense_Mutation_p.G1212A|TNIK_ENST00000284483.8_Missense_Mutation_p.G1288A|TNIK_ENST00000488470.1_Missense_Mutation_p.G1241A|TNIK_ENST00000475336.1_Missense_Mutation_p.G1204A|TNIK_ENST00000470834.1_Missense_Mutation_p.G1259A|TNIK_ENST00000538048.1_Missense_Mutation_p.G1248A	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1296	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTCGCCCCAGCCCATTATCTG	0.398000													13	99					0	0	0.002450	0	0
INHBA	3624	broad.mit.edu	37	7	41729504	41729504	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:41729504G>A	ENST00000242208.4	-	3	1271	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.P342L|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	342					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ATAGCCAGAGGGAGCAATGAT	0.537000										TSP Lung(11;0.080)			11	179					0	0	0.008291	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67320198	67320198	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:67320198G>T	ENST00000360461.5	+	14	4999	c.2464G>T	c.(2464-2466)Gcg>Tcg	p.A822S	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.A822S|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.A822S|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.A741S	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	822	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGGATGTACGCGCTCTACAG	0.557000													10	92					0.000978159	0.00109912	0.010729	1	0
LPHN2	23266	broad.mit.edu	37	1	82302730	82302730	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:82302730C>A	ENST00000370728.1	+	5	706	c.61C>A	c.(61-63)Cca>Aca	p.P21T	LPHN2_ENST00000370730.1_Missense_Mutation_p.P21T|LPHN2_ENST00000370715.1_Missense_Mutation_p.P21T|LPHN2_ENST00000370727.1_Missense_Mutation_p.P21T|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370713.1_Missense_Mutation_p.P21T|LPHN2_ENST00000370717.2_Missense_Mutation_p.P21T|LPHN2_ENST00000370721.1_Missense_Mutation_p.P21T|LPHN2_ENST00000335786.5_Missense_Mutation_p.P21T|LPHN2_ENST00000394879.1_Missense_Mutation_p.P21T|LPHN2_ENST00000370725.1_Missense_Mutation_p.P21T|LPHN2_ENST00000370723.1_Missense_Mutation_p.P21T|LPHN2_ENST00000271029.4_Missense_Mutation_p.P21T|LPHN2_ENST00000359929.3_Missense_Mutation_p.P21T|LPHN2_ENST00000319517.6_Missense_Mutation_p.P21T			O95490	LPHN2_HUMAN	latrophilin 2	21					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAGCTTCTTACCAAATACAGA	0.323000													11	184					1.58986e-06	2.08732e-06	0.008291	1	0
GRIK3	2899	broad.mit.edu	37	1	37291266	37291266	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:37291266G>T	ENST00000373091.3	-	11	1708	c.1692C>A	c.(1690-1692)gaC>gaA	p.D564E	GRIK3_ENST00000373093.4_Missense_Mutation_p.D564E	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	564					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ACATCCAGATGTCTGGGGACA	0.557000													5	124					0.00116845	0.00129793	0.001168	1	0
ITLN2	142683	broad.mit.edu	37	1	160920955	160920955	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:160920955T>C	ENST00000368029.3	-	4	376	c.319A>G	c.(319-321)Acg>Gcg	p.T107A		NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	107	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCACCCACCGTGCACTTCCCA	0.587000													8	45					0	0	0.003080	0	0
LHFPL1	340596	broad.mit.edu	37	X	111914406	111914406	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:111914406G>T	ENST00000371968.3	-	2	452	c.213C>A	c.(211-213)gcC>gcA	p.A71A	LHFPL1_ENST00000536453.1_Silent_p.A71A|LHFPL1_ENST00000478229.1_Intron	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	71						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CATTGAAGCTGGCATAGCGCC	0.597000													15	133					1.15088e-07	1.59207e-07	0.004007	1	0
HCN1	348980	broad.mit.edu	37	5	45262380	45262380	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:45262380C>A	ENST00000303230.4	-	8	2373	c.2316G>T	c.(2314-2316)caG>caT	p.Q772H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	772						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						TGTGAAGCGCCTGCGTGCTCT	0.632000													6	123					0.000157383	0.000184735	0.003080	1	0
NPY4R	5540	broad.mit.edu	37	10	47087408	47087408	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:47087408C>A	ENST00000374312.1	+	3	1044	c.625C>A	c.(625-627)Cac>Aac	p.H209N	NPY4R_ENST00000395716.1_Missense_Mutation_p.H209N	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		GCCACTGGCTCACCACCGCAC	0.582000													10	227					0.000566183	0.000650081	0.004990	1	0
SEMA5B	54437	broad.mit.edu	37	3	122632705	122632705	+	Splice_Site	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:122632705C>A	ENST00000195173.4	-	15	2435	c.2132_splice	c.e15+1	p.R711_splice	SEMA5B_ENST00000357599.3_Splice_Site_p.R711_splice|SEMA5B_ENST00000451055.2_Splice_Site_p.R765_splice			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	711	TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TCTCCCTCACCGTTCCTCCCG	0.657000													5	193					0.000602214	0.000681538	0.000602	1	0
ACTN2	88	broad.mit.edu	37	1	236891006	236891006	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:236891006C>A	ENST00000366578.4	+	6	731	c.565C>A	c.(565-567)Ctc>Atc	p.L189I	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.L189I	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	189	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACTCTGTGCCCTCATCCACCG	0.547000													8	113					2.17888e-05	2.6848e-05	0.006214	1	0
OR56A3	390083	broad.mit.edu	37	11	5969236	5969236	+	Silent	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:5969236C>G	ENST00000329564.6	+	1	667	c.660C>G	c.(658-660)ctC>ctG	p.L220L		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TTATCTTCCTCTCCTACACCT	0.522000													36	385					0	0	0.010771	0	0
PCLO	27445	broad.mit.edu	37	7	82544299	82544299	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:82544299C>G	ENST00000423517.2	-	7	13340	c.13003G>C	c.(13003-13005)Gcc>Ccc	p.A4335P	PCLO_ENST00000437081.1_Missense_Mutation_p.A1055P|PCLO_ENST00000333891.8_Missense_Mutation_p.A4335P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4266					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						TTAGTTCTGGCAGAGGATGAT	0.428000													10	130					0	0	0.006214	0	0
INO80	54617	broad.mit.edu	37	15	41350930	41350930	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:41350930T>A	ENST00000361937.3	-	16	2316	c.1892A>T	c.(1891-1893)tAt>tTt	p.Y631F	INO80_ENST00000401393.3_Missense_Mutation_p.Y631F			Q9ULG1	INO80_HUMAN	INO80 complex subunit	631	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CACCAGCTGATAGCTGGTAAT	0.448000													10	60					0	0	0.006214	0	0
CALCB	797	broad.mit.edu	37	11	15096627	15096627	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:15096627C>A	ENST00000523376.1	+	8	1402	c.140C>A	c.(139-141)cCa>cAa	p.P47Q	CALCB_ENST00000533448.1_Missense_Mutation_p.P36Q|CALCB_ENST00000324229.6_Missense_Mutation_p.P36Q			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	36					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						GAGAGCAGCCCAGACCCGGCC	0.622000											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	158					1.9806e-07	2.73388e-07	0.014323	1	0
ITPA	3704	broad.mit.edu	37	20	3194649	3194649	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:3194649G>T	ENST00000380113.3	+	4	400	c.208G>T	c.(208-210)Gtt>Ttt	p.V70F	ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000399838.3_Missense_Mutation_p.V29F|ITPA_ENST00000455664.1_Missense_Mutation_p.V53F	NM_033453.3	NP_258412.1	Q9BY32	ITPA_HUMAN	inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	70					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						GCCCGTGCTGGTTGAGGACAC	0.612000													36	190					2.6416e-12	4.22322e-12	0.006230	1	0
PSD	5662	broad.mit.edu	37	10	104176416	104176416	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:104176416C>A	ENST00000020673.5	-	2	906	c.380G>T	c.(379-381)tGg>tTg	p.W127L	PSD_ENST00000406432.1_Missense_Mutation_p.W127L	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	127	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ACCCAGATCCCAGCTCCGACT	0.642000													9	32					0.00448238	0.00485111	0.004482	1	0
ATP11B	23200	broad.mit.edu	37	3	182584169	182584169	+	Silent	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:182584169A>T	ENST00000323116.5	+	14	1817	c.1557A>T	c.(1555-1557)ccA>ccT	p.P519P		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	519					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ACCTGGCACCATCGCAGTTGG	0.443000													20	118					0	0	0.010504	0	0
DGKI	9162	broad.mit.edu	37	7	137075986	137075986	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:137075986C>A	ENST00000453654.1	-	33	2724	c.2185G>T	c.(2185-2187)Gac>Tac	p.D729Y	DGKI_ENST00000424189.2_Missense_Mutation_p.D1073Y|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.D1060Y|DGKI_ENST00000446122.1_Missense_Mutation_p.D1042Y			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1060					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.D1060Y(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GTTTCCAGGTCCTCATGGCCA	0.527000													18	159					1.2644e-06	1.67237e-06	0.010504	1	0
OR56A1	120796	broad.mit.edu	37	11	6048534	6048534	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:6048534C>A	ENST00000316650.5	-	1	437	c.401G>T	c.(400-402)tGc>tTc	p.C134F		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGGGTGGCAGATGGCCAC	0.507000													13	167					1.61879e-10	2.44854e-10	0.013537	1	0
CNKSR2	22866	broad.mit.edu	37	X	21488899	21488899	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:21488899G>A	ENST00000425654.2	+	5	1015	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	CNKSR2_ENST00000543067.1_Missense_Mutation_p.E179K|CNKSR2_ENST00000279451.4_Missense_Mutation_p.E179K|CNKSR2_ENST00000379510.3_Missense_Mutation_p.E179K	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	179					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TACTGTATATGAAACAGAGAA	0.249000													12	51					0	0	0.003163	0	0
ZBBX	79740	broad.mit.edu	37	3	167051656	167051656	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:167051656G>A	ENST00000392766.2	-	10	986	c.646C>T	c.(646-648)Cat>Tat	p.H216Y	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Missense_Mutation_p.H216Y|ZBBX_ENST00000455345.2_Missense_Mutation_p.H216Y|ZBBX_ENST00000307529.5_Missense_Mutation_p.H216Y|ZBBX_ENST00000392764.1_Missense_Mutation_p.H187Y	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	216						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGGGTTTATGTTGAATTTTA	0.368000													28	288					0	0	0.012213	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171259	68171259	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:68171259G>T	ENST00000243457.3	+	2	462	c.79G>T	c.(79-81)Gca>Tca	p.A27S	KCNJ2_ENST00000535240.1_Missense_Mutation_p.A27S	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	27					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CATGGCAGTTGCAAATGGCTT	0.517000													5	75					1.23904e-05	1.55095e-05	0.000602	1	0
PKHD1	5314	broad.mit.edu	37	6	51656119	51656119	+	Silent	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:51656119C>G	ENST00000371117.3	-	53	8630	c.8355G>C	c.(8353-8355)gtG>gtC	p.V2785V	PKHD1_ENST00000340994.4_Silent_p.V2785V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2785	G8 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGTCCCCATCACATACAGCC	0.448000													32	179					0	0	0.012213	0	0
CSMD2	114784	broad.mit.edu	37	1	34100922	34100922	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:34100922C>A	ENST00000373381.4	-	31	5154	c.4978G>T	c.(4978-4980)Ggg>Tgg	p.G1660W	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.G533W	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1620	CUB 10.					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)				TACTGTCCCCCACAGGGGGCT	0.552000											OREG0013349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	54					0.00116845	0.00129793	0.001168	1	0
LPHN2	23266	broad.mit.edu	37	1	82409389	82409389	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:82409389C>A	ENST00000370728.1	+	8	1779	c.1134C>A	c.(1132-1134)taC>taA	p.Y378*	LPHN2_ENST00000370730.1_Nonsense_Mutation_p.Y378*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.Y378*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.Y378*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.Y378*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.Y378*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.Y382*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.Y378*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.Y378*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.Y378*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.Y378*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.Y378*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.Y378*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.Y378*			O95490	LPHN2_HUMAN	latrophilin 2	378	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.Y378Y(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACCAACTTTACGTGTGGAACA	0.403000													10	237					2.17888e-05	2.6848e-05	0.006214	1	0
MS4A14	84689	broad.mit.edu	37	11	60164087	60164087	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:60164087C>T	ENST00000300187.6	+	1	313	c.36C>T	c.(34-36)caC>caT	p.H12H	MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395005.2_Silent_p.H12H|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531783.1_Silent_p.H12H	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	12						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GGGCAACTCACGTCATCACTA	0.453000													11	90					0	0	0.001855	0	0
ABL2	27	broad.mit.edu	37	1	179076925	179076925	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:179076925C>A	ENST00000502732.1	-	12	3680	c.3477G>T	c.(3475-3477)gtG>gtT	p.V1159V	ABL2_ENST00000507173.1_Silent_p.V1035V|ABL2_ENST00000367623.4_Silent_p.V1138V|ABL2_ENST00000344730.3_Silent_p.V1041V|ABL2_ENST00000512653.1_Silent_p.V1144V|ABL2_ENST00000504405.1_Silent_p.V1020V|ABL2_ENST00000408940.3_Silent_p.V1123V|ABL2_ENST00000511413.1_Silent_p.V1056V	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	1159	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTGTCCCGGGCACACCAGCAG	0.507000			T	ETV6	AML								6	78					0.00116845	0.00129793	0.001168	1	0
TTN	7273	broad.mit.edu	37	2	179588354	179588354	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:179588354C>T	ENST00000589042.1	-	74	21697	c.21473G>A	c.(21472-21474)aGc>aAc	p.S7158N	TTN_ENST00000591111.1_Missense_Mutation_p.S6841N|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S5914N|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6841	Ig-like 53.						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)			TCTAATAACGCTTGTGAAGGT	0.418000													3	54					0	0	0.000602	0	0
ZNF536	9745	broad.mit.edu	37	19	30936135	30936135	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:30936135G>T	ENST00000355537.3	+	2	1813	c.1666G>T	c.(1666-1668)Ggg>Tgg	p.G556W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCAAACGCCGGGGTTCTGTT	0.542000													27	123					1.55811e-20	2.69574e-20	0.008361	1	0
MOSPD3	64598	broad.mit.edu	37	7	100212502	100212502	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:100212502A>C	ENST00000393950.2	+	4	806	c.524A>C	c.(523-525)cAa>cCa	p.Q175P	MOSPD3_ENST00000379527.2_Missense_Mutation_p.Q175P|MOSPD3_ENST00000424091.2_Missense_Mutation_p.Q165P|MOSPD3_ENST00000223054.4_Missense_Mutation_p.Q175P	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	175						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCGCCAGCAACTGGCCACC	0.607000													10	125					0	0	0.002450	0	0
SPOCK1	6695	broad.mit.edu	37	5	136448123	136448123	+	Splice_Site	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:136448123C>A	ENST00000394945.1	-	5	644		c.e5+1		SPOCK1_ENST00000282223.7_Splice_Site	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1						cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAAAACCAACCTTGGATGTG	0.498000													14	122					3.45872e-05	4.24113e-05	0.004007	1	0
CA10	56934	broad.mit.edu	37	17	49710879	49710879	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:49710879T>C	ENST00000451037.2	-	8	1862	c.922A>G	c.(922-924)Aag>Gag	p.K308E	CA10_ENST00000570565.1_Missense_Mutation_p.K233E|CA10_ENST00000340813.6_Missense_Mutation_p.K314E|CA10_ENST00000285273.4_Missense_Mutation_p.K308E|CA10_ENST00000442502.2_Missense_Mutation_p.K308E	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	308					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GGACAGTCCTTCCCCTGTAAA	0.507000													6	182					0	0	0.010729	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195303	18195303	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:18195303G>T	ENST00000314254.3	+	1	920	c.500G>T	c.(499-501)gGt>gTt	p.G167V	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	167						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTGTTTAGTGGTGCTGATTCT	0.532000													20	271					1.01871e-10	1.55016e-10	0.008871	1	0
SBSN	374897	broad.mit.edu	37	19	36017670	36017670	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:36017670G>T	ENST00000452271.2	-	1	1542	c.1514C>A	c.(1513-1515)gCt>gAt	p.A505D	SBSN_ENST00000518157.1_Missense_Mutation_p.A162D	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	162						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTCCTTTCCAGCCTGGTCAGC	0.592000													14	59					1.5739e-10	2.38922e-10	0.004007	1	0
LCE2B	26239	broad.mit.edu	37	1	152659577	152659577	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:152659577C>A	ENST00000368780.3	+	2	312	c.258C>A	c.(256-258)caC>caA	p.H86Q	LCE2B_ENST00000417924.2_Missense_Mutation_p.H86Q	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	86	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCGCCGGCACCAGAGCCCCG	0.667000													12	148					3.41278e-10	5.1131e-10	0.004990	1	0
MMP16	4325	broad.mit.edu	37	8	89209477	89209477	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:89209477C>T	ENST00000286614.6	-	2	472	c.191G>A	c.(190-192)cGc>cAc	p.R64H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	64					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CTCTGCAGAGCGCAGCACTGA	0.438000													9	119					0	0	0.004482	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140865563	140865563	+	Missense_Mutation	SNP	G	G	T	rs114142606	by1000genomes	TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:140865563G>T	ENST00000306593.1	+	1	823	c.823G>T	c.(823-825)Ggt>Tgt	p.G275C	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTCCCAGTGGTAACGTCAC	0.537000													14	229					2.23348e-06	2.89917e-06	0.004007	1	0
PRPF3	9129	broad.mit.edu	37	1	150315816	150315816	+	Silent	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:150315816A>G	ENST00000324862.6	+	10	1479	c.1314A>G	c.(1312-1314)gtA>gtG	p.V438V	PRPF3_ENST00000414970.2_Silent_p.V389V|PRPF3_ENST00000543398.1_3'UTR|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	438					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTCTGGGAGTATATCTTACCA	0.378000													5	71					0	0	0.001984	0	0
MSH3	4437	broad.mit.edu	37	5	80074567	80074567	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:80074567C>A	ENST00000265081.6	+	17	2427	c.2347C>A	c.(2347-2349)Cct>Act	p.P783T		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	783					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CTTTCACTCTCCTTTTATTGT	0.403000								Mismatch excision repair (MMR)					25	193					9.04412e-07	1.20113e-06	0.004656	1	0
ZNF257	113835	broad.mit.edu	37	19	22271976	22271976	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:22271976C>T	ENST00000594947.1	+	4	1568	c.1424C>T	c.(1423-1425)aCt>aTt	p.T475I		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCACACCTTACTCAACATAAA	0.388000													6	44					0	0	0.001984	0	0
VWA8	23078	broad.mit.edu	37	13	42161647	42161647	+	Splice_Site	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr13:42161647C>G	ENST00000379310.3	-	42	5340		c.e42+1			NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CATGTCATTACCTGGAACTTC	0.453000													7	125					0	0	0.003080	0	0
HEPHL1	341208	broad.mit.edu	37	11	93819304	93819304	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:93819304G>T	ENST00000315765.9	+	11	2037	c.2029G>T	c.(2029-2031)Gcc>Tcc	p.A677S		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	677	Plastocyanin-like 4.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGACTCCCTGGCCCTGTTTCC	0.522000													5	43					8.12818e-05	9.6303e-05	0.001984	1	0
RARB	5915	broad.mit.edu	37	3	25502764	25502764	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:25502764C>A	ENST00000330688.4	+	2	659	c.238C>A	c.(238-240)Ccc>Acc	p.P80T	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000404969.1_Missense_Mutation_p.P87T|RARB_ENST00000458646.1_5'UTR|RARB_ENST00000437042.2_5'UTR	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	87	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGTGTACAAACCCTGCTTCGT	0.522000													20	187					2.39556e-15	3.9706e-15	0.002780	1	0
STK39	27347	broad.mit.edu	37	2	168997237	168997237	+	Silent	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:168997237C>G	ENST00000355999.4	-	6	1365	c.660G>C	c.(658-660)ggG>ggC	p.G220G		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	220	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						TAACATCACCCCCTGTTGCTA	0.358000													4	104					0	0	0.009096	0	0
FAT3	120114	broad.mit.edu	37	11	92086802	92086802	+	Silent	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:92086802C>G	ENST00000298047.6	+	1	1541	c.1524C>G	c.(1522-1524)acC>acG	p.T508T	FAT3_ENST00000409404.2_Silent_p.T508T|FAT3_ENST00000525166.1_Silent_p.T358T|FAT3_ENST00000541502.1_Silent_p.T508T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	508	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGTACATCACCTATAGTATCG	0.393000										TCGA Ovarian(4;0.039)			9	120					0	0	0.006214	0	0
KIAA1429	25962	broad.mit.edu	37	8	95502247	95502247	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:95502247C>T	ENST00000297591.5	-	23	5279	c.5204G>A	c.(5203-5205)gGa>gAa	p.G1735E	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1735					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ATTGTAATTTCCTCGAGGAGT	0.443000													7	171					0	0	0.001984	0	0
DSEL	92126	broad.mit.edu	37	18	65178453	65178453	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:65178453C>A	ENST00000310045.7	-	2	4896	c.3423G>T	c.(3421-3423)gtG>gtT	p.V1141V	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1131						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GAGGAAAATGCACAATATCTT	0.398000													5	65					5.9392e-07	8.02268e-07	0.001168	1	0
ZNF536	9745	broad.mit.edu	37	19	31039359	31039359	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:31039359C>A	ENST00000355537.3	+	4	2980	c.2833C>A	c.(2833-2835)Cct>Act	p.P945T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCTGACCCCCCTTCCATGAA	0.512000													58	204					1.55545e-33	2.76694e-33	0.014410	1	0
FCRL5	83416	broad.mit.edu	37	1	157508935	157508935	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:157508935C>G	ENST00000361835.3	-	7	1500	c.1343G>C	c.(1342-1344)tGc>tCc	p.C448S	FCRL5_ENST00000356953.4_Missense_Mutation_p.C448S|FCRL5_ENST00000368189.3_Missense_Mutation_p.C448S|FCRL5_ENST00000368191.3_Missense_Mutation_p.C363S|FCRL5_ENST00000368190.3_Missense_Mutation_p.C448S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	448	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GTCAGCTGTGCAGTAGTAGTT	0.602000													5	140					0	0	0.003080	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995949	140995949	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:140995949T>C	ENST00000285879.4	+	4	3045	c.2759T>C	c.(2758-2760)cTc>cCc	p.L920P	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	920	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CGGTTTCTTCTCCTCAAATAT	0.488000										HNSCC(15;0.026)			59	212					0	0	0.014410	0	0
DSG2	1829	broad.mit.edu	37	18	29126202	29126202	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:29126202G>T	ENST00000261590.8	+	15	3062	c.2853G>T	c.(2851-2853)gtG>gtT	p.V951V	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	951					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CAACCACTGTGATCCTGGGTC	0.483000													13	183					1.49906e-05	1.86533e-05	0.002450	1	0
NTF3	4908	broad.mit.edu	37	12	5604132	5604132	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:5604132C>G	ENST00000423158.3	+	2	1003	c.791C>G	c.(790-792)tCg>tGg	p.S264W	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.S251W	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	251					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TGTGCCTTGTCGAGAAAAATC	0.388000													6	60					0	0	0.001168	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92855720	92855720	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:92855720G>A	ENST00000394468.2	-	1	117	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F	HEPACAM2_ENST00000453812.2_Missense_Mutation_p.L14F	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	14						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AAGACCCCAAGTGTGTCACCG	0.453000													11	276					0	0	0.004990	0	0
TIAM2	26230	broad.mit.edu	37	6	155450580	155450580	+	Missense_Mutation	SNP	G	G	C	rs138740409	byFrequency	TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:155450580G>C	ENST00000461783.3	+	6	1496	c.223G>C	c.(223-225)Gca>Cca	p.A75P	TIAM2_ENST00000456144.1_Missense_Mutation_p.A75P|TIAM2_ENST00000318981.5_Missense_Mutation_p.A75P|TIAM2_ENST00000529824.2_Missense_Mutation_p.A75P|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.A75P			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	75					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCAGCCTTACGCATCGAGACT	0.567000													4	38					0	0	0.001168	0	0
VPS18	57617	broad.mit.edu	37	15	41188135	41188135	+	Splice_Site	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:41188135G>T	ENST00000220509.5	+	2	430		c.e2-1		VPS18_ENST00000558474.1_Splice_Site	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)						endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		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)		CTTACCTGTAGGGTATGTGAA	0.517000													12	123					0.000978159	0.00109912	0.010729	1	0
CILP2	148113	broad.mit.edu	37	19	19654863	19654863	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:19654863C>T	ENST00000586018.1	+	8	1629	c.1527C>T	c.(1525-1527)acC>acT	p.T509T	CILP2_ENST00000291495.4_Silent_p.T503T			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	503						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TCGGCTTCACCGCCTACCAGG	0.677000													3	30					0	0	0.004672	0	0
N4BP1	9683	broad.mit.edu	37	16	48581956	48581956	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:48581956C>A	ENST00000262384.3	-	5	2423	c.2187G>T	c.(2185-2187)gtG>gtT	p.V729V	N4BP1_ENST00000565423.1_5'UTR	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	729					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CTGACTCATTCACAAATTCTC	0.308000													14	197					6.31663e-08	8.83488e-08	0.003163	1	0
OSTF1	26578	broad.mit.edu	37	9	77732461	77732461	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr9:77732461A>T	ENST00000346234.6	+	2	226	c.76A>T	c.(76-78)Aga>Tga	p.R26*		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	26	SH3.				ossification|signal transduction	cytoplasm	identical protein binding			endometrium(1)|skin(1)	2						GTTTGAACCCAGAACTGTAAG	0.333000													5	64					0	0	0.001984	0	0
TJP1	7082	broad.mit.edu	37	15	30054591	30054591	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:30054591C>A	ENST00000346128.6	-	6	1114	c.640G>T	c.(640-642)Gat>Tat	p.D214Y	TJP1_ENST00000495972.2_Missense_Mutation_p.D214Y|TJP1_ENST00000545208.2_Missense_Mutation_p.D214Y|TJP1_ENST00000356107.6_Missense_Mutation_p.D214Y|TJP1_ENST00000400011.2_Missense_Mutation_p.D218Y	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	214	PDZ 2.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCCAAACTATCTTGTGAAATT	0.303000													14	119					1.33834e-09	1.9793e-09	0.007413	1	0
ZPLD1	131368	broad.mit.edu	37	3	102175129	102175129	+	Silent	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:102175129A>G	ENST00000306176.1	+	4	568	c.468A>G	c.(466-468)ccA>ccG	p.P156P	ZPLD1_ENST00000466937.1_Silent_p.P140P|ZPLD1_ENST00000491959.1_Silent_p.P140P	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	140	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CAGACCCACCAACAATCATCA	0.388000													47	519					0	0	0.014410	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552110	178552110	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:178552110C>A	ENST00000251582.7	-	19	2923	c.2822G>T	c.(2821-2823)cGc>cTc	p.R941L		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	941	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R941H(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTGAATGCAGCGCACGGAGCG	0.692000													5	60					0.000602214	0.000681538	0.000602	1	0
CDYL2	124359	broad.mit.edu	37	16	80646674	80646674	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:80646674G>T	ENST00000299564.8	-	5	1222	c.1067C>A	c.(1066-1068)cCg>cAg	p.P356Q	CDYL2_ENST00000563890.1_Missense_Mutation_p.P357Q|CDYL2_ENST00000562812.1_Missense_Mutation_p.P357Q|CDYL2_ENST00000566173.1_Missense_Mutation_p.P357Q	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	356						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GCCCAGGGCCGGCCCATTGAT	0.582000													12	185					2.31682e-05	2.84645e-05	0.003163	1	0
FSCB	84075	broad.mit.edu	37	14	44975660	44975660	+	Silent	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:44975660T>C	ENST00000340446.4	-	1	822	c.531A>G	c.(529-531)tcA>tcG	p.S177S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	177						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CATCTTCCTTTGACTTTGTAG	0.403000													43	343					0	0	0.014410	0	0
CD1A	909	broad.mit.edu	37	1	158226612	158226612	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:158226612C>A	ENST00000289429.5	+	4	1174	c.641C>A	c.(640-642)cCt>cAt	p.P214H		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	214	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GGCCCCAGTCCTGGCCCTGGC	0.547000													34	240					2.75727e-19	4.75093e-19	0.004878	1	0
TTN	7273	broad.mit.edu	37	2	179585261	179585261	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:179585261C>G	ENST00000589042.1	-	80	23452	c.23228G>C	c.(23227-23229)aGa>aCa	p.R7743T	TTN_ENST00000591111.1_Missense_Mutation_p.R7426T|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R6499T|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7426	Ig-like 59.						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)			CTTGCTGTTTCTAACCTGCTT	0.388000													4	88					0	0	0.009096	0	0
FOLR1	2348	broad.mit.edu	37	11	71907060	71907060	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:71907060G>T	ENST00000393679.1	+	5	1049	c.613G>T	c.(613-615)Ggg>Tgg	p.G205W	FOLR1_ENST00000393676.3_Missense_Mutation_p.G205W|FOLR1_ENST00000393681.2_Missense_Mutation_p.G205W|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Missense_Mutation_p.G205W			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	205					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						CTACAGCCGAGGGAGTGGCCG	0.587000													5	95					1.3612e-06	1.79645e-06	0.003163	1	0
DCBLD2	131566	broad.mit.edu	37	3	98600395	98600395	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:98600395C>G	ENST00000326840.6	-	2	784	c.422G>C	c.(421-423)aGa>aCa	p.R141T	DCBLD2_ENST00000469648.1_Intron|DCBLD2_ENST00000326857.9_Missense_Mutation_p.R141T	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	141	CUB.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TATTTCAGTTCTGCTGACTCC	0.303000													23	314					0	0	0.014323	0	0
GBX1	2636	broad.mit.edu	37	7	150864102	150864102	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:150864102C>A	ENST00000297537.4	-	1	533	c.534G>T	c.(532-534)ctG>ctT	p.L178L	GBX1_ENST00000475831.1_5'UTR	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	178	Pro-rich.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTTACCGGGCAGACTTGGAA	0.652000													12	61					2.27111e-07	3.11784e-07	0.013537	1	0
NF1	4763	broad.mit.edu	37	17	29527461	29527461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:29527461C>T	ENST00000358273.4	+	9	1293	c.910C>T	c.(910-912)Cga>Tga	p.R304*	NF1_ENST00000431387.4_Nonsense_Mutation_p.R304*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R304*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	304					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)|p.R304*(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGACAGTCTACGAAAAGCTCT	0.368000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			22	106					0	0	0.003330	0	0
CD1A	909	broad.mit.edu	37	1	158227279	158227279	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:158227279G>T	ENST00000289429.5	+	5	1485	c.952G>T	c.(952-954)Gcg>Tcg	p.A318S		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	318					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GATAGGTCTTGCGCTTTGGTT	0.453000													23	676					1.75199e-13	2.83687e-13	0.007291	1	0
HSD17B2	3294	broad.mit.edu	37	16	82104622	82104622	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:82104622A>G	ENST00000199936.4	+	3	747	c.554A>G	c.(553-555)tAc>tGc	p.Y185C	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	185					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	ATGACTGACTACAAACAATGC	0.468000													25	233					0	0	0.004656	0	0
FAT3	120114	broad.mit.edu	37	11	92533553	92533553	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:92533553G>T	ENST00000298047.6	+	9	7391	c.7374G>T	c.(7372-7374)aaG>aaT	p.K2458N	FAT3_ENST00000409404.2_Missense_Mutation_p.K2458N|FAT3_ENST00000525166.1_Missense_Mutation_p.K2308N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2458	Cadherin 22.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCATCGGAAGCAGCGGATGG	0.478000										TCGA Ovarian(4;0.039)			21	78					1.42536e-11	2.23353e-11	0.004656	1	0
KLHL2	11275	broad.mit.edu	37	4	166160028	166160028	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:166160028C>T	ENST00000226725.6	+	4	617	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	KLHL2_ENST00000538127.1_Nonsense_Mutation_p.Q32*|KLHL2_ENST00000421009.2_Intron|KLHL2_ENST00000514860.1_Nonsense_Mutation_p.Q124*	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	120	BTB.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TGCAGAAATTCAGGTTACAGA	0.378000													9	216					0	0	0.010729	0	0
ARHGAP6	395	broad.mit.edu	37	X	11196310	11196310	+	Silent	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:11196310G>C	ENST00000337414.4	-	8	2411	c.1539C>G	c.(1537-1539)ccC>ccG	p.P513P	ARHGAP6_ENST00000380732.3_Silent_p.P545P|ARHGAP6_ENST00000303025.6_Silent_p.P310P|ARHGAP6_ENST00000380718.1_Silent_p.P513P|ARHGAP6_ENST00000534860.1_Silent_p.P338P|ARHGAP6_ENST00000380736.1_Silent_p.P310P|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000413512.3_Silent_p.P322P	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	513	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CGCAGTTGCAGGGAGGTAGAA	0.547000													6	50					0	0	0.003080	0	0
WDR45B	56270	broad.mit.edu	37	17	80588887	80588887	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:80588887C>T	ENST00000392325.4	-	3	348	c.154G>A	c.(154-156)Gga>Aga	p.G52R	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2			WD repeat domain 45B																		CCAACTCCTCCTTCTAGAAAT	0.328000													14	38					0	0	0.002450	0	0
ADH1B	125	broad.mit.edu	37	4	100237162	100237162	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:100237162C>A	ENST00000305046.8	-	5	527	c.460G>T	c.(460-462)Gat>Tat	p.D154Y	ADH1B_ENST00000394887.3_Missense_Mutation_p.D114Y			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	154					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GCATTCTCATCCACCACCGTG	0.572000													19	170					8.00594e-06	1.01725e-05	0.007413	1	0
GGPS1	9453	broad.mit.edu	37	1	235506022	235506022	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:235506022G>T	ENST00000282841.5	+	4	1070	c.838G>T	c.(838-840)Ggg>Tgg	p.G280W	GGPS1_ENST00000391855.2_Missense_Mutation_p.G226W|GGPS1_ENST00000476121.1_Missense_Mutation_p.G280W|GGPS1_ENST00000488594.1_Missense_Mutation_p.G280W|GGPS1_ENST00000358966.2_Missense_Mutation_p.G280W			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	280					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)			TGCACGTGGTGGGAACCCTGA	0.368000													4	82					1.23904e-05	1.55095e-05	0.000602	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146536805	146536805	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:146536805G>T	ENST00000361727.3	+	3	727	c.211G>T	c.(211-213)Gct>Tct	p.A71S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	71	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATCTTCAGGTGCTGGGGGATG	0.428000										HNSCC(39;0.1)			4	86					0.00909568	0.0096699	0.009096	1	0
DNAH7	56171	broad.mit.edu	37	2	196889177	196889177	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:196889177T>C	ENST00000312428.6	-	8	819	c.719A>G	c.(718-720)gAt>gGt	p.D240G	DNAH7_ENST00000410072.1_Missense_Mutation_p.D240G	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	240	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGGAAGTTCATCTGTCTTCTT	0.294000													3	20					0	0	0.004672	0	0
CMTR1	23070	broad.mit.edu	37	6	37411795	37411795	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:37411795G>T	ENST00000373451.4	+	3	318	c.154G>T	c.(154-156)Ggg>Tgg	p.G52W		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		52					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						AAGCCTTAGTGGGTCTGATAG	0.413000													10	238					9.70103e-10	1.43976e-09	0.008291	1	0
PHGDH	26227	broad.mit.edu	37	1	120266066	120266066	+	Splice_Site	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:120266066T>C	ENST00000369407.3	+	2	1761		c.e2+2		PHGDH_ENST00000369409.4_Splice_Site			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase						brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CCTGGCCAGGTAAGTCCCTGA	0.473000													8	197					0	0	0.003080	0	0
PLA2G2C	391013	broad.mit.edu	37	1	20490554	20490554	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:20490554G>T	ENST00000429261.2	-	4	440	c.380C>A	c.(379-381)cCc>cAc	p.P127H	PLA2G2C_ENST00000495760.2_Intron|PLA2G2C_ENST00000247992.5_Missense_Mutation_p.P128H					phospholipase A2, group IIC											NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTCATAGGTGGGCAGGCTCTC	0.572000													4	42					1.23904e-05	1.55095e-05	0.000602	1	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363392	21363392	+	RNA	SNP	G	G	A	rs28522842	by1000genomes	TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr22:21363392G>A	ENST00000452284.1	+	0	1059				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						GGGCCCCATCGAATCACAGGG	0.562000													8	122					0	0	0.003163	0	0
ANO1	55107	broad.mit.edu	37	11	69972210	69972210	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:69972210G>T	ENST00000355303.5	+	10	1311	c.1006G>T	c.(1006-1008)Ggc>Tgc	p.G336C	ANO1_ENST00000316296.5_Missense_Mutation_p.G308C|ANO1_ENST00000538023.1_Missense_Mutation_p.G336C|ANO1_ENST00000531349.1_Missense_Mutation_p.G71C|ANO1_ENST00000530676.1_Missense_Mutation_p.G220C|ANO1_ENST00000398543.2_Missense_Mutation_p.G220C	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	336					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CGCCTGGCTGGGCGTGTACAC	0.552000													7	39					8.12818e-05	9.6303e-05	0.001984	1	0
ARHGEF37	389337	broad.mit.edu	37	5	148999941	148999941	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:148999941G>T	ENST00000333677.6	+	8	1082	c.919G>T	c.(919-921)Gaa>Taa	p.E307*		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	307	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CAGGCCGCACGAATACAATCT	0.512000													19	165					2.89027e-11	4.48453e-11	0.014323	1	0
P2RX1	5023	broad.mit.edu	37	17	3802969	3802969	+	Silent	SNP	C	C	G	rs12602000		TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:3802969C>G	ENST00000225538.3	-	8	1108	c.834G>C	c.(832-834)ggG>ggC	p.G278G		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	278					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CTTCGTACAGCCCATGGAACT	0.567000													11	49					0	0	0.008291	0	0
NR3C2	4306	broad.mit.edu	37	4	149357133	149357133	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:149357133T>C	ENST00000355292.3	-	2	1242	c.880A>G	c.(880-882)Aga>Gga	p.R294G	NR3C2_ENST00000511528.1_Missense_Mutation_p.R294G|NR3C2_ENST00000344721.4_Missense_Mutation_p.R294G|NR3C2_ENST00000342437.4_Missense_Mutation_p.R294G|NR3C2_ENST00000358102.3_Missense_Mutation_p.R294G|NR3C2_ENST00000512865.1_Missense_Mutation_p.R294G			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	294	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ACAGAGGATCTCAGAGTGACA	0.468000													6	89					0	0	0.001984	0	0
TNR	7143	broad.mit.edu	37	1	175331925	175331925	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:175331925C>A	ENST00000367674.1	-	14	3436	c.2728G>T	c.(2728-2730)Gtg>Ttg	p.V910L	TNR_ENST00000263525.2_Missense_Mutation_p.V910L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	910	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TTGGGCACCACTGAGCTGTCT	0.498000													37	206					9.85521e-28	1.74086e-27	0.006230	1	0
TRERF1	55809	broad.mit.edu	37	6	42227235	42227235	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:42227235T>A	ENST00000541110.1	-	9	2739	c.2171A>T	c.(2170-2172)gAg>gTg	p.E724V	TRERF1_ENST00000372922.4_Missense_Mutation_p.E704V|TRERF1_ENST00000340840.2_Missense_Mutation_p.E621V|TRERF1_ENST00000354325.2_Missense_Mutation_p.E621V|TRERF1_ENST00000372917.4_Missense_Mutation_p.E621V			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	704	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGGGGGCAGCTCGTGGGTGGG	0.726000													4	53					0	0	0.000602	0	0
TREML3P	340206	broad.mit.edu	37	6	41185594	41185594	+	RNA	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:41185594C>G	ENST00000564680.1	-	0	91																											AAGTAAGGTACACCGACTTGG	0.498000													7	109					0	0	0.003080	0	0
COL22A1	169044	broad.mit.edu	37	8	139668138	139668138	+	Splice_Site	SNP	A	A	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:139668138A>C	ENST00000303045.6	-	45	3780		c.e45+1		COL22A1_ENST00000435777.1_Splice_Site|COL22A1_ENST00000341807.4_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTATGCTTTTACCTTAGCCAA	0.363000										HNSCC(7;0.00092)			19	708					0	0	0.003330	0	0
PDE11A	50940	broad.mit.edu	37	2	178762853	178762853	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:178762853G>T	ENST00000286063.5	-	4	1551	c.1234C>A	c.(1234-1236)Cat>Aat	p.H412N	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Missense_Mutation_p.H54N|PDE11A_ENST00000409504.1_Missense_Mutation_p.H54N|PDE11A_ENST00000358450.4_Missense_Mutation_p.H162N	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	412	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TGGGCCCGATGCATTATTTTC	0.368000									Primary Pigmented Nodular Adrenocortical Disease, Familial				24	242					1.66031e-10	2.50534e-10	0.003954	1	0
FBXL7	23194	broad.mit.edu	37	5	15937086	15937086	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:15937086C>T	ENST00000504595.1	+	4	1748	c.1267C>T	c.(1267-1269)Ctg>Ttg	p.L423L	FBXL7_ENST00000329673.7_Silent_p.L411L|FBXL7_ENST00000510662.1_Silent_p.L376L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	423					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCTGGAGTGCCTGGCCCTGAA	0.592000													20	59					0	0	0.010504	0	0
REV3L	5980	broad.mit.edu	37	6	111701261	111701261	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:111701261T>C	ENST00000435970.1	-	13	1960	c.1144A>G	c.(1144-1146)Aaa>Gaa	p.K382E	REV3L_ENST00000358835.3_Missense_Mutation_p.K460E|REV3L_ENST00000368802.3_Missense_Mutation_p.K460E|REV3L_ENST00000368805.1_Missense_Mutation_p.K460E			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	460					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATTTCCTCTTTTTCAATCTGT	0.378000								DNA polymerases (catalytic subunits)					23	316					0	0	0.003330	0	0
RYR2	6262	broad.mit.edu	37	1	237660032	237660032	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:237660032A>T	ENST00000366574.2	+	20	2500	c.2183A>T	c.(2182-2184)gAt>gTt	p.D728V	RYR2_ENST00000542537.1_Missense_Mutation_p.D712V|RYR2_ENST00000360064.6_Missense_Mutation_p.D726V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	728	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATGGATTTGATGGCCTTCAT	0.498000													13	254					0	0	0.002450	0	0
FAM135B	51059	broad.mit.edu	37	8	139165438	139165438	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:139165438G>A	ENST00000395297.1	-	13	1450	c.1280C>T	c.(1279-1281)cCt>cTt	p.P427L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	427										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATCAAAATTAGGATAAACACT	0.294000										HNSCC(54;0.14)			5	94					0	0	0.001168	0	0
USH2A	7399	broad.mit.edu	37	1	215847652	215847652	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:215847652C>T	ENST00000366943.2	-	63	13987	c.13601G>A	c.(13600-13602)gGg>gAg	p.G4534E	USH2A_ENST00000307340.3_Missense_Mutation_p.G4534E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4534	Fibronectin type-III 31.				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)		AGGTTCCATCCCTGAGGGTGC	0.507000										HNSCC(13;0.011)			18	302					0	0	0.004990	0	0
ATP4A	495	broad.mit.edu	37	19	36050743	36050743	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:36050743C>A	ENST00000262623.3	-	7	1048	c.1020G>T	c.(1018-1020)gtG>gtT	p.V340V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	340					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCACATAGGCCACCACGATGG	0.597000													18	77					1.50039e-11	2.3395e-11	0.012319	1	0
HTR3D	200909	broad.mit.edu	37	3	183756227	183756227	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:183756227T>A	ENST00000382489.3	+	7	950	c.950T>A	c.(949-951)aTg>aAg	p.M317K	HTR3D_ENST00000453435.1_Missense_Mutation_p.M96K|HTR3D_ENST00000428798.2_Missense_Mutation_p.M267K|HTR3D_ENST00000334128.2_Missense_Mutation_p.M142K	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	317						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTGTCCCTGATGGTGGGCAGC	0.617000													34	318					0	0	0.013726	0	0
KDM4E	390245	broad.mit.edu	37	11	94759260	94759260	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:94759260G>T	ENST00000450979.2	+	1	839	c.539G>T	c.(538-540)gGc>gTc	p.G180V		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	180	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						CTGTACTTTGGCATGTGGAAG	0.522000													11	144					0.00316338	0.00344724	0.003163	1	0
MUC16	94025	broad.mit.edu	37	19	9048764	9048764	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:9048764A>G	ENST00000397910.4	-	5	33070	c.32867T>C	c.(32866-32868)cTt>cCt	p.L10956P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10958	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						TGGTTCACCAAGAGAAAAAGT	0.498000													6	621					0	0	0.001984	0	0
EIF3A	8661	broad.mit.edu	37	10	120825038	120825038	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:120825038G>A	ENST00000369144.3	-	7	1122	c.995C>T	c.(994-996)aCt>aTt	p.T332I	EIF3A_ENST00000541549.1_Missense_Mutation_p.T298I|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	332					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACGCTCAGGAGTAATAGGGAT	0.423000													4	112					0	0	0.009096	0	0
PHF21B	112885	broad.mit.edu	37	22	45312231	45312231	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr22:45312231G>A	ENST00000313237.5	-	4	643	c.493C>T	c.(493-495)Ccc>Tcc	p.P165S	PHF21B_ENST00000447824.3_Missense_Mutation_p.P153S|PHF21B_ENST00000404079.2_Missense_Mutation_p.P153S|PHF21B_ENST00000403565.1_Missense_Mutation_p.P3S|PHF21B_ENST00000396103.3_Missense_Mutation_p.P165S	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	165							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GCGGTGCTGGGGGCCATGGCG	0.677000													8	31					0	0	0.003080	0	0
FRY	10129	broad.mit.edu	37	13	32839660	32839660	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr13:32839660C>A	ENST00000380250.3	+	54	8349	c.7853C>A	c.(7852-7854)cCa>cAa	p.P2618Q	FRY_ENST00000542859.1_5'UTR	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AATGAACTCCCAGCAGCTTTT	0.493000													13	74					0.000219431	0.000256851	0.002450	1	0
MSANTD4	84437	broad.mit.edu	37	11	105881530	105881530	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:105881530T>C	ENST00000301919.4	-	2	1530	c.115A>G	c.(115-117)Aca>Gca	p.T39A		NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	39						nucleus											ACATTAATTGTTGTATTGAGC	0.388000													41	840					0	0	0.007835	0	0
LILRA3	11026	broad.mit.edu	37	19	54804156	54804156	+	Silent	SNP	C	C	A	rs142044806		TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:54804156C>A	ENST00000391745.1	-	5	385	c.69G>T	c.(67-69)acG>acT	p.T23T	LILRA3_ENST00000391744.3_Silent_p.T6T|LILRA3_ENST00000251390.3_Silent_p.T6T					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGATCAGGACCGTGAGGATGG	0.592000													9	65					2.27111e-07	3.11784e-07	0.013537	1	0
TG	7038	broad.mit.edu	37	8	133980047	133980047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:133980047C>T	ENST00000220616.4	+	31	5735	c.5695C>T	c.(5695-5697)Cag>Tag	p.Q1899*	TG_ENST00000519543.1_Nonsense_Mutation_p.Q53*|TG_ENST00000377869.1_Nonsense_Mutation_p.Q1842*|TG_ENST00000542445.1_Nonsense_Mutation_p.Q269*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1899					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			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)		AGGTTGTGTGCAGGAGCACTC	0.493000													24	87					0	0	0.007291	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617836	77617836	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:77617836C>A	ENST00000521891.2	+	2	1961	c.1513C>A	c.(1513-1515)Caa>Aaa	p.Q505K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q505K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q505K|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q505K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	505						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTCTTAAACCAAAGCATTTC	0.398000										HNSCC(33;0.089)			14	36					1.05317e-09	1.55938e-09	0.002450	1	0
CLVS1	157807	broad.mit.edu	37	8	62212388	62212388	+	Translation_Start_Site	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:62212388T>A	ENST00000519846.1	+	3	474	c.2T>A	c.(1-3)aTg>aAg	p.M1K	CLVS1_ENST00000325897.4_Start_Codon_SNP_p.M1K|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	1					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATCAGGTGAATGGGACCAGTC	0.473000													4	161					0	0	0.000602	0	0
RASGRP3	25780	broad.mit.edu	37	2	33740241	33740241	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:33740241A>T	ENST00000403687.3	+	3	778	c.38A>T	c.(37-39)gAt>gTt	p.D13V	RASGRP3_ENST00000407811.1_Missense_Mutation_p.D13V|RASGRP3_ENST00000402538.3_Missense_Mutation_p.D13V	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	13	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GCAACATTAGATGAACTGCTG	0.428000													16	353					0	0	0.007413	0	0
G6PC2	57818	broad.mit.edu	37	2	169764517	169764517	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:169764517C>A	ENST00000375363.3	+	5	1088	c.996C>A	c.(994-996)ccC>ccA	p.P332P	G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	332					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						CATCCATTCCCCTAACTGTGG	0.423000													15	259					2.32078e-09	3.41626e-09	0.003163	1	0
PPP2R3A	5523	broad.mit.edu	37	3	135742036	135742036	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:135742036A>T	ENST00000334546.2	+	1	460	c.125A>T	c.(124-126)cAg>cTg	p.Q42L	PPP2R3A_ENST00000490467.1_Intron|PPP2R3A_ENST00000264977.3_Intron	NM_181897.2	NP_871626.1	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	0					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCATTTCAGCAGACACAGGTT	0.393000													15	239					0	0	0.003163	0	0
ZC3H6	376940	broad.mit.edu	37	2	113088700	113088700	+	Silent	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:113088700A>G	ENST00000409871.1	+	12	2606	c.2205A>G	c.(2203-2205)acA>acG	p.T735T	ZC3H6_ENST00000343936.4_Silent_p.T735T	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	735							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AACCTTCCACAGAACTCAGCA	0.403000													5	43					0	0	0.000602	0	0
RP1L1	94137	broad.mit.edu	37	8	10467245	10467245	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:10467245T>A	ENST00000382483.3	-	4	4586	c.4363A>T	c.(4363-4365)Agt>Tgt	p.S1455C		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1455					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)		CTGAGATGACTAGGGGGCTCT	0.637000													19	177					0	0	0.006122	0	0
ZNF91	7644	broad.mit.edu	37	19	23545105	23545105	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:23545105T>A	ENST00000300619.7	-	4	881	c.676A>T	c.(676-678)Act>Tct	p.T226S	ZNF91_ENST00000397082.2_Missense_Mutation_p.T194S|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	226						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTATGATTAGTAAGGGTTGAG	0.338000													29	94					0	0	0.008361	0	0
ARHGAP5	394	broad.mit.edu	37	14	32561010	32561010	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:32561010G>T	ENST00000345122.3	+	2	1450	c.1135G>T	c.(1135-1137)Gtg>Ttg	p.V379L	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V379L|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V379L|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V379L	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	379	FF 2.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GTTATGTTTTGTGGTGCTAGA	0.358000													6	401					0.00198382	0.00217308	0.001984	1	0
FAT4	79633	broad.mit.edu	37	4	126337718	126337718	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:126337718A>G	ENST00000394329.3	+	6	6972	c.6959A>G	c.(6958-6960)cAg>cGg	p.Q2320R	FAT4_ENST00000335110.5_Missense_Mutation_p.Q618R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2320	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAGTAACACAGAGTCTGGAT	0.398000													22	364					0	0	0.014323	0	0
CD1A	909	broad.mit.edu	37	1	158225118	158225118	+	Nonsense_Mutation	SNP	C	C	A	rs147750753		TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:158225118C>A	ENST00000289429.5	+	2	836	c.303C>A	c.(301-303)taC>taA	p.Y101*		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	101					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TTCGTAGATACGCCCATGAAT	0.463000													7	208					2.17888e-05	2.6848e-05	0.006214	1	0
HHIPL1	84439	broad.mit.edu	37	14	100118680	100118680	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:100118680G>T	ENST00000330710.5	+	2	473	c.375G>T	c.(373-375)ctG>ctT	p.L125L	HHIPL1_ENST00000357223.2_Silent_p.L125L	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	125					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCCGGGGGCTGTTCCGTCACC	0.637000													14	79					2.32078e-09	3.41626e-09	0.003163	1	0
DEFB112	245915	broad.mit.edu	37	6	50011298	50011298	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:50011298G>T	ENST00000322246.4	-	2	331	c.332C>A	c.(331-333)tCa>tAa	p.S111*		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	111					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TCAATGACGTGAGTCTTTAGG	0.413000													7	63					0.00448238	0.00485111	0.004482	1	0
NOL4	8715	broad.mit.edu	37	18	31709892	31709892	+	Silent	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:31709892C>G	ENST00000261592.5	-	2	654	c.357G>C	c.(355-357)acG>acC	p.T119T	NOL4_ENST00000589544.1_Silent_p.T119T|NOL4_ENST00000538587.1_Silent_p.T45T|NOL4_ENST00000269185.4_Silent_p.T5T|NOL4_ENST00000535475.1_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	119						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CATTTGGCCCCGTTTCCACAT	0.403000													15	252					0	0	0.003163	0	0
ISM2	145501	broad.mit.edu	37	14	77944655	77944655	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:77944655C>A	ENST00000393684.3	-	7	1255	c.864G>T	c.(862-864)aaG>aaT	p.K288N	ISM2_ENST00000429906.1_Missense_Mutation_p.K295N|ISM2_ENST00000493585.1_Missense_Mutation_p.R261M|ISM2_ENST00000342219.4_Missense_Mutation_p.K376N|ISM2_ENST00000412904.1_Missense_Mutation_p.K295N			Q6H9L7	ISM2_HUMAN	isthmin 2	376						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CCAAGGTGTCCTTGTCCTCAG	0.627000													12	126					9.16793e-09	1.3188e-08	0.004990	1	0
NUAK1	9891	broad.mit.edu	37	12	106461547	106461547	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:106461547C>A	ENST00000261402.2	-	7	2398	c.1019G>T	c.(1018-1020)gGg>gTg	p.G340V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	340							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						AGCCTGCAGCCCTGTGGAACG	0.572000													8	71					5.18039e-06	6.61561e-06	0.003080	1	0
UGT3A1	133688	broad.mit.edu	37	5	35965803	35965803	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:35965803C>A	ENST00000274278.3	-	4	885	c.528G>T	c.(526-528)ggG>ggT	p.G176G	UGT3A1_ENST00000333811.4_Silent_p.G122G|UGT3A1_ENST00000507113.1_Silent_p.G142G|UGT3A1_ENST00000503189.1_Silent_p.G176G|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	176						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCTTGGTAGCCCAAAATCCA	0.438000													53	181					6.4308e-24	1.12339e-23	0.014410	1	0
TSIX	9383	broad.mit.edu	37	X	73043445	73043445	+	RNA	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:73043445C>A	ENST00000604411.1	+	0	31406				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CAAGGTGGGTCTAATTCACTT	0.383000													8	104					3.86212e-05	4.64558e-05	0.008291	1	0
TP53	7157	broad.mit.edu	37	17	7577507	7577507	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:7577507T>A	ENST00000420246.2	-	7	906	c.774A>T	c.(772-774)gaA>gaT	p.E258D	TP53_ENST00000359597.4_Missense_Mutation_p.E258D|TP53_ENST00000455263.2_Missense_Mutation_p.E258D|TP53_ENST00000269305.4_Missense_Mutation_p.E258D|TP53_ENST00000445888.2_Missense_Mutation_p.E258D|TP53_ENST00000413465.2_Missense_Mutation_p.E258D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	258	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E258D(9)|p.0?(8)|p.D259fs*5(1)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.D259fs*86(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACCTGGAGTCTTCCAGTGTGA	0.577000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			29	62					0	0	0.009535	0	0
BRD4	23476	broad.mit.edu	37	19	15350220	15350220	+	Missense_Mutation	SNP	G	G	T	rs150535175		TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:15350220G>T	ENST00000263377.2	-	17	3780	c.3559C>A	c.(3559-3561)Cca>Aca	p.P1187T		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1187					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGCGCAACTGGAGTCTTCGGC	0.627000			T	C15orf55	lethal midline carcinoma of young people								6	41					0.00116845	0.00129793	0.001168	1	0
RGAG1	57529	broad.mit.edu	37	X	109694148	109694148	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:109694148C>A	ENST00000465301.2	+	3	549	c.303C>A	c.(301-303)tcC>tcA	p.S101S	RGAG1_ENST00000540313.1_Silent_p.S101S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	101										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GGGCACTTTCCCCATTGCTAA	0.532000													37	396					4.32679e-17	7.3058e-17	0.006999	1	0
CALCA	796	broad.mit.edu	37	11	14992724	14992724	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:14992724C>A	ENST00000361010.3	-	2	89	c.15G>T	c.(13-15)aaG>aaT	p.K5N	CALCA_ENST00000331587.4_Missense_Mutation_p.K5N|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000486207.1_Missense_Mutation_p.K5N|CALCA_ENST00000359642.3_Missense_Mutation_p.K5N|CALCA_ENST00000396372.2_Missense_Mutation_p.K5N	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	5					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	AGGGGGAGAACTTTTGGAAGC	0.547000													12	168					0.000978159	0.00109912	0.010729	1	0
HFE2	148738	broad.mit.edu	37	1	145416330	145416330	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:145416330G>C	ENST00000336751.5	+	4	913	c.675G>C	c.(673-675)aaG>aaC	p.K225N	HFE2_ENST00000497365.1_5'UTR|HFE2_ENST00000475797.1_5'UTR|HFE2_ENST00000357836.5_Missense_Mutation_p.K112N	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	225					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCATATTTAAGAACATGCAGG	0.443000													11	182					0	0	0.002450	0	0
VMP1	81671	broad.mit.edu	37	17	57915655	57915655	+	Splice_Site	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:57915655G>T	ENST00000262291.4	+	11	1284		c.e11-1		VMP1_ENST00000537567.1_Splice_Site|VMP1_ENST00000536180.1_Splice_Site|VMP1_ENST00000539763.1_Splice_Site|VMP1_ENST00000588617.1_Intron|VMP1_ENST00000545362.1_Splice_Site	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1						autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						CCTGCTTCCAGTGCTGTCCCC	0.483000													12	98					7.03913e-09	1.02071e-08	0.013537	1	0
XK	7504	broad.mit.edu	37	X	37587592	37587592	+	Silent	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:37587592C>T	ENST00000378616.3	+	3	1415	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	404					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				AGCAAAAACCCTGTGAGCCGA	0.473000													11	118					0	0	0.008291	0	0
MED12L	116931	broad.mit.edu	37	3	151078261	151078261	+	Splice_Site	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:151078261G>T	ENST00000474524.1	+	19	2758		c.e19-1		MED12L_ENST00000273432.4_Splice_Site|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.?(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTCTCCTCAGGTTGTGTGGT	0.373000													27	699					2.85442e-18	4.89162e-18	0.010818	1	0
PYROXD2	84795	broad.mit.edu	37	10	100157240	100157240	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:100157240C>A	ENST00000370575.4	-	6	535	c.487G>T	c.(487-489)Gag>Tag	p.E163*	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	163							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						ATGAACTCCTCATATTTGGGA	0.587000													4	33					0.000602214	0.000681538	0.000602	1	0
VPS13D	55187	broad.mit.edu	37	1	12381896	12381896	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:12381896G>A	ENST00000358136.3	+	33	7709	c.7579G>A	c.(7579-7581)Gat>Aat	p.D2527N	VPS13D_ENST00000356315.4_Missense_Mutation_p.D2527N	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2527					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)		GAATGAGCATGATACAGCTCT	0.398000													14	188					0	0	0.004990	0	0
DGKA	1606	broad.mit.edu	37	12	56333079	56333079	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:56333079G>C	ENST00000331886.5	+	8	1038	c.584G>C	c.(583-585)gGt>gCt	p.G195A	DGKA_ENST00000394147.1_Missense_Mutation_p.G195A|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.G195A	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	195					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GTGCTGCTGGGTCTGGAGATG	0.562000													4	213					0	0	0.000602	0	0
WEE1	7465	broad.mit.edu	37	11	9610100	9610100	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:9610100G>T	ENST00000299613.6	+	11	2005	c.1250G>T	c.(1249-1251)cGa>cTa	p.R417L	WEE1_ENST00000450114.2_Missense_Mutation_p.R631L	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	631	Protein kinase.				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		AGAACATCTCGACTTATTGGA	0.488000													6	75					3.59834e-05	4.34899e-05	0.001168	1	0
CHD2	1106	broad.mit.edu	37	15	93522422	93522422	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:93522422G>A	ENST00000394196.4	+	22	3853	c.2785G>A	c.(2785-2787)Gcc>Acc	p.A929T	CHD2_ENST00000557381.1_Missense_Mutation_p.A929T	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	929	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CATAGAACGGGCCAAAAAGAA	0.478000													6	475					0	0	0.001984	0	0
HS3ST4	9951	broad.mit.edu	37	16	25704416	25704416	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:25704416G>A	ENST00000331351.5	+	1	1070	c.678G>A	c.(676-678)gtG>gtA	p.V226V		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	226					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TGCGGGCGGTGGGCGTAGAGC	0.667000													3	16					0	0	0.000602	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784705	140784705	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:140784705G>C	ENST00000573521.1	+	1	2186	c.2186G>C	c.(2185-2187)aGt>aCt	p.S729T	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCTACCAGTGATGGGTTG	0.587000													4	36					0	0	0.009096	0	0
KMT2A	4297	broad.mit.edu	37	11	118376837	118376837	+	Silent	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:118376837A>G	ENST00000534358.1	+	27	10253	c.10230A>G	c.(10228-10230)ccA>ccG	p.P3410P	KMT2A_ENST00000354520.4_Silent_p.P3369P|KMT2A_ENST00000389506.5_Silent_p.P3407P	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GAATGTTTCCACAACTGGGGA	0.512000													13	147					0	0	0.001855	0	0
APOA2	336	broad.mit.edu	37	1	161192312	161192312	+	Splice_Site	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:161192312C>T	ENST00000367990.3	-	4	243	c.185_splice	c.e4-1	p.K62_splice	APOA2_ENST00000481413.1_5'UTR	NM_001643.1	NP_001634.1	P02652	APOA2_HUMAN	apolipoprotein A-II	62					cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling	chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAAAGTAAGACCTGGATAGGT	0.522000													65	673					0	0	0.014410	0	0
GPR125	166647	broad.mit.edu	37	4	22415263	22415263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:22415263G>A	ENST00000334304.5	-	13	2253	c.1984C>T	c.(1984-1986)Cga>Tga	p.R662*	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	662					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ACAGTACGTCGTTTTCCATCA	0.413000													11	103					0	0	0.002450	0	0
C16orf82	162083	broad.mit.edu	37	16	27078164	27078164	+	RNA	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:27078164C>A	ENST00000505035.1	+	0	137							Q7Z2V1	TNT_HUMAN																			TTCTCCCTCCCACACCCGCCT	0.592000													6	59					1.06961e-07	1.48944e-07	0.003080	1	0
ERP44	23071	broad.mit.edu	37	9	102814756	102814756	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr9:102814756C>A	ENST00000262455.6	-	4	428	c.229G>T	c.(229-231)Gaa>Taa	p.E77*		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	77	Thioredoxin.				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						GGAAATTCTTCCTTAATGACA	0.398000													24	188					7.41945e-09	1.07094e-08	0.005443	1	0
FPR3	2359	broad.mit.edu	37	19	52328054	52328054	+	Silent	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:52328054A>G	ENST00000339223.4	+	2	1232	c.1053A>G	c.(1051-1053)caA>caG	p.Q351Q	FPR3_ENST00000595991.1_Silent_p.Q351Q	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	351					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CGGAGTTACAAGCAATGTGAG	0.493000													12	44					0	0	0.013537	0	0
TRIM51	84767	broad.mit.edu	37	11	55655699	55655699	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:55655699G>T	ENST00000449290.2	+	4	791	c.699G>T	c.(697-699)ctG>ctT	p.L233L	TRIM51_ENST00000244891.3_Silent_p.L90L	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	233						intracellular	zinc ion binding										ATGAGGATCTGAAGCAAATGT	0.453000													13	171					3.41278e-10	5.1131e-10	0.004990	1	0
CIB3	117286	broad.mit.edu	37	19	16279068	16279068	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:16279068G>T	ENST00000269878.4	-	4	275	c.226C>A	c.(226-228)Cag>Aag	p.Q76K	CIB3_ENST00000379859.3_Missense_Mutation_p.Q27K|CIB3_ENST00000541493.1_Intron	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	76	EF-hand 1.						calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						GAGAATACCTGGGCAATCCTC	0.557000													4	66					0.00909568	0.0096699	0.009096	1	0
SIGLEC7	27036	broad.mit.edu	37	19	51650072	51650072	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:51650072C>A	ENST00000317643.6	+	5	1158	c.1089C>A	c.(1087-1089)gcC>gcA	p.A363A	SIGLEC7_ENST00000305628.7_Silent_p.A270A|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	363					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GAGCCACAGCCCTGGTCTTCC	0.582000													13	170					5.35267e-07	7.26927e-07	0.007413	1	0
OR10H2	26538	broad.mit.edu	37	19	15839797	15839797	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:15839797C>G	ENST00000305899.3	+	1	964	c.944C>G	c.(943-945)aCc>aGc	p.T315S		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCCTCAGGCACCTGAGTAGCT	0.502000													6	55					0	0	0.001168	0	0
FRS2	10818	broad.mit.edu	37	12	69965981	69965981	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:69965981A>T	ENST00000299293.2	+	9	1006	c.496A>T	c.(496-498)Aga>Tga	p.R166*	FRS2_ENST00000397997.2_Nonsense_Mutation_p.R166*|FRS2_ENST00000549921.1_Nonsense_Mutation_p.R166*|FRS2_ENST00000550389.1_Nonsense_Mutation_p.R166*	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	166					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TCCGTCAAGCAGACATCCTTC	0.468000													6	142					0	0	0.001984	0	0
COL6A3	1293	broad.mit.edu	37	2	238249743	238249743	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:238249743A>C	ENST00000295550.4	-	38	8268	c.7816T>G	c.(7816-7818)Ttc>Gtc	p.F2606V	COL6A3_ENST00000346358.4_Missense_Mutation_p.F2406V|COL6A3_ENST00000409809.1_Missense_Mutation_p.F2400V|COL6A3_ENST00000353578.4_Missense_Mutation_p.F2400V|COL6A3_ENST00000347401.3_Missense_Mutation_p.F2405V|COL6A3_ENST00000472056.1_Missense_Mutation_p.F1999V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2606	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)		CTGTCCCTGAAGGAAGGCCTC	0.522000													10	199					0	0	0.004007	0	0
OR4N4	283694	broad.mit.edu	37	15	22382907	22382907	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:22382907G>A	ENST00000328795.4	+	1	526	c.435G>A	c.(433-435)atG>atA	p.M145I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATGCAATGATGTTGGCTCTGT	0.522000													26	394					0	0	0.009718	0	0
ATP8B4	79895	broad.mit.edu	37	15	50211081	50211081	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:50211081A>C	ENST00000284509.6	-	19	2131	c.1990T>G	c.(1990-1992)Tca>Gca	p.S664A	ATP8B4_ENST00000559829.1_Missense_Mutation_p.S664A	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	664					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTGGCTAGTGATAAACTTGTA	0.343000													12	283					0	0	0.003163	0	0
ITFG2	55846	broad.mit.edu	37	12	2930910	2930910	+	Silent	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:2930910A>T	ENST00000228799.2	+	9	1039	c.900A>T	c.(898-900)tcA>tcT	p.S300S	ITFG2_ENST00000542548.1_Silent_p.S188S|ITFG2_ENST00000419778.2_Silent_p.S123S	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	300								p.S300S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TGCTGTGGTCAGTGCAGGTGG	0.567000													58	340					0	0	0.014410	0	0
RYR2	6262	broad.mit.edu	37	1	237921009	237921009	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:237921009C>T	ENST00000366574.2	+	82	11575	c.11258C>T	c.(11257-11259)cCa>cTa	p.P3753L	RYR2_ENST00000542537.1_Missense_Mutation_p.P3737L|RYR2_ENST00000360064.6_Missense_Mutation_p.P3759L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3753					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAACTGGACCAATGGTAGCA	0.353000													5	202					0	0	0.001168	0	0
TARS	6897	broad.mit.edu	37	5	33455692	33455692	+	Splice_Site	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:33455692G>T	ENST00000265112.3	+	6	887	c.575_splice	c.e6-1	p.G192_splice	TARS_ENST00000502553.1_Splice_Site_p.G192_splice|TARS_ENST00000541634.1_Splice_Site_p.G88_splice|TARS_ENST00000414361.2_Splice_Site_p.G71_splice|TARS_ENST00000455217.2_Splice_Site_p.G225_splice	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	192					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TCTCCTTCAGGGGTGTGTCTA	0.343000													36	101					1.07121e-22	1.85588e-22	0.006999	1	0
CENPF	1063	broad.mit.edu	37	1	214830567	214830567	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:214830567A>G	ENST00000366955.3	+	18	8945	c.8777A>G	c.(8776-8778)aAt>aGt	p.N2926S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3022	Sufficient for centromere localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCTGGCCAAAATAAAGCTTCA	0.448000													47	394					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179485620	179485620	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:179485620T>G	ENST00000589042.1	-	247	45941	c.45717A>C	c.(45715-45717)aaA>aaC	p.K15239N	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K13598N|TTN_ENST00000359218.5_Missense_Mutation_p.K6299N|TTN_ENST00000460472.2_Missense_Mutation_p.K6174N|TTN_ENST00000342175.6_Missense_Mutation_p.K6366N|TTN_ENST00000342992.6_Missense_Mutation_p.K12671N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13598	Fibronectin type-III 11.						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)			TTCTGAACCATTTGGCTTTGG	0.398000													4	112					0	0	0.001984	0	0
SGMS2	166929	broad.mit.edu	37	4	108824444	108824444	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:108824444G>T	ENST00000394684.4	+	5	1186	c.629G>T	c.(628-630)gGt>gTt	p.G210V	SGMS2_ENST00000359079.4_Missense_Mutation_p.G210V|SGMS2_ENST00000394686.3_Missense_Mutation_p.G210V|RP11-286E11.1_ENST00000499098.1_RNA|RP11-286E11.1_ENST00000513071.1_RNA	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	210					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	ATTTCTGGTGGTGGATTGTCC	0.413000													13	350					2.31682e-05	2.84645e-05	0.003163	1	0
BCAS3	54828	broad.mit.edu	37	17	59115404	59115404	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:59115404G>T	ENST00000589222.1	+	18	1985	c.1917G>T	c.(1915-1917)tgG>tgT	p.W639C	BCAS3_ENST00000408905.3_Missense_Mutation_p.W639C|BCAS3_ENST00000588874.1_Missense_Mutation_p.W410C|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000585744.1_Missense_Mutation_p.W425C|BCAS3_ENST00000588462.1_Missense_Mutation_p.W654C|BCAS3_ENST00000407086.3_Missense_Mutation_p.W639C|BCAS3_ENST00000390652.5_Missense_Mutation_p.W654C			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	654						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GAGCCAGCTGGACTCTGGTTA	0.428000													11	120					1.61879e-10	2.44854e-10	0.013537	1	0
ALG1	56052	broad.mit.edu	37	16	5128824	5128824	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:5128824G>T	ENST00000588623.1	+	8	1574	c.474G>T	c.(472-474)ctG>ctT	p.L158L	ALG1_ENST00000544428.1_Silent_p.L158L|ALG1_ENST00000262374.5_Silent_p.L269L			Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	269					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				GGAGCGGGCTGGTGACGCGTC	0.657000													7	29					0.00307968	0.00335892	0.003080	1	0
FBXL7	23194	broad.mit.edu	37	5	15928267	15928267	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:15928267C>A	ENST00000504595.1	+	3	877	c.396C>A	c.(394-396)aaC>aaA	p.N132K	FBXL7_ENST00000329673.7_Missense_Mutation_p.N120K|FBXL7_ENST00000510662.1_Missense_Mutation_p.N85K	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	132	F-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGCCCACCAACCAGCTGTGCC	0.672000													5	18					0.00116845	0.00129793	0.001168	1	0
AOX1	316	broad.mit.edu	37	2	201488583	201488583	+	Splice_Site	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:201488583G>T	ENST00000374700.2	+	19	2242		c.e19-1		AOX1_ENST00000485106.1_Splice_Site	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1						inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTGTGTCGTAGGTGTTCTGTG	0.488000													17	271					3.99206e-14	6.54801e-14	0.007413	1	0
MAPK9	5601	broad.mit.edu	37	5	179663483	179663483	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:179663483C>A	ENST00000452135.2	-	12	1474	c.1176G>T	c.(1174-1176)tcG>tcT	p.S392S	MAPK9_ENST00000347470.4_Silent_p.S307S|MAPK9_ENST00000455781.1_Silent_p.S392S|MAPK9_ENST00000343111.6_3'UTR|MAPK9_ENST00000393360.3_3'UTR			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	392					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTCATTGATCGATGAAGACT	0.478000													9	184					2.80697e-09	4.09851e-09	0.010729	1	0
CLCA4	22802	broad.mit.edu	37	1	87033185	87033185	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:87033185G>T	ENST00000370563.3	+	7	1075	c.1033G>T	c.(1033-1035)Ggg>Tgg	p.G345W	CLCA4_ENST00000263723.5_Missense_Mutation_p.G58W	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	345	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ATCCTGGGTGGGGATGGTTCA	0.388000													19	147					4.96729e-08	6.98629e-08	0.008871	1	0
DTNA	1837	broad.mit.edu	37	18	32428317	32428317	+	Silent	SNP	G	G	T	rs144776465	byFrequency	TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:32428317G>T	ENST00000283365.9	+	13	1503	c.1152G>T	c.(1150-1152)gcG>gcT	p.A384A	DTNA_ENST00000399121.5_Silent_p.A381A|DTNA_ENST00000597674.1_Silent_p.A63A|DTNA_ENST00000269192.7_Silent_p.A150A|DTNA_ENST00000269191.6_Silent_p.A441A|DTNA_ENST00000598142.1_Silent_p.A384A|DTNA_ENST00000598774.1_Silent_p.A384A|DTNA_ENST00000595022.1_Silent_p.A381A|DTNA_ENST00000601125.1_Silent_p.A63A|DTNA_ENST00000348997.5_Silent_p.A438A|DTNA_ENST00000556414.3_Silent_p.A93A|DTNA_ENST00000591182.1_Silent_p.A89A|DTNA_ENST00000597599.1_Silent_p.A381A|DTNA_ENST00000269190.7_Silent_p.A442A|DTNA_ENST00000399097.3_Silent_p.A89A|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000598334.1_Silent_p.A381A|DTNA_ENST00000444659.1_Silent_p.A441A|DTNA_ENST00000599844.1_Silent_p.A63A|DTNA_ENST00000399113.3_Silent_p.A441A	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	441					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CCAGGTATGCGGCAAGGCTGG	0.443000													7	85					0.00198382	0.00217308	0.001984	1	0
ETS2	2114	broad.mit.edu	37	21	40194596	40194596	+	Splice_Site	SNP	A	A	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr21:40194596A>C	ENST00000360214.3	+	11	1654		c.e11-1		ETS2_ENST00000360938.3_Splice_Site	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2						positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TGTTCACCAAAGGTGGCCCGC	0.443000													11	70					0	0	0.010729	0	0
DCDC2	51473	broad.mit.edu	37	6	24357736	24357736	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:24357736C>G	ENST00000378454.3	-	1	544	c.243G>C	c.(241-243)caG>caC	p.Q81H	KAAG1_ENST00000274766.1_5'UTR	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	81	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TGCCCCCGCTCTGGATCTGGT	0.612000													4	40					0	0	0.009096	0	0
LRP2	4036	broad.mit.edu	37	2	170063608	170063608	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:170063608C>A	ENST00000263816.3	-	39	6907	c.6622G>T	c.(6622-6624)Gac>Tac	p.D2208Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2208					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGCCCATAGTCAGCCCAGAAG	0.488000													14	404					4.14922e-12	6.60008e-12	0.004007	1	0
NPAP1	23742	broad.mit.edu	37	15	24921934	24921934	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:24921934C>A	ENST00000329468.2	+	1	1394	c.920C>A	c.(919-921)cCt>cAt	p.P307H		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GATGAGAAGCCTTTCTGTATT	0.582000													6	143					0.00116845	0.00129793	0.001168	1	0
PDE3A	5139	broad.mit.edu	37	12	20806953	20806953	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:20806953C>A	ENST00000359062.3	+	15	3038	c.2998C>A	c.(2998-3000)Ctt>Att	p.L1000I	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1000	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GCTGGCCAACCTTCAGGAATC	0.488000													29	111					3.73148e-12	5.94307e-12	0.007291	1	0
HEPN1	641654	broad.mit.edu	37	11	124789750	124789750	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:124789750G>A	ENST00000408930.5	+	1	605	c.104G>A	c.(103-105)aGg>aAg	p.R35K	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	35						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	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;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		TTAAGGAGGAGGGAATGGAAT	0.493000													9	87					0	0	0.004482	0	0
NRXN3	9369	broad.mit.edu	37	14	79181165	79181165	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:79181165T>A	ENST00000554719.1	+	5	1099	c.608T>A	c.(607-609)cTg>cAg	p.L203Q	NRXN3_ENST00000335750.5_Missense_Mutation_p.L203Q	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	209	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATCCTGGACCTGGAAGGAGAC	0.597000													9	144					0	0	0.001855	0	0
PKD1L1	168507	broad.mit.edu	37	7	47869105	47869105	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:47869105G>A	ENST00000289672.2	-	44	6703	c.6653C>T	c.(6652-6654)tCt>tTt	p.S2218F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2218					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGCCAATTCAGAGTCCAGATC	0.458000													52	225					0	0	0.014410	0	0
BDKRB2	624	broad.mit.edu	37	14	96706899	96706899	+	Silent	SNP	C	C	A	rs146975044		TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:96706899C>A	ENST00000542454.2	+	3	3241	c.153C>A	c.(151-153)gtC>gtA	p.V51V	BDKRB2_ENST00000306005.3_Silent_p.V78V|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.V51V|BDKRB2_ENST00000554311.1_Silent_p.V78V			P30411	BKRB2_HUMAN	bradykinin receptor B2	78					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		ACATCTTTGTCCTCAGCGTCT	0.627000													19	232					1.96292e-10	2.95491e-10	0.010504	1	0
CRNKL1	51340	broad.mit.edu	37	20	20018210	20018210	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:20018210C>T	ENST00000377340.2	-	14	2167	c.2136G>A	c.(2134-2136)tgG>tgA	p.W712*	CRNKL1_ENST00000521379.1_Intron|CRNKL1_ENST00000377327.4_Nonsense_Mutation_p.W700*|CRNKL1_ENST00000536226.1_Nonsense_Mutation_p.W551*	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	712					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CAAAGCTGATCCATACCTTTA	0.328000													6	136					0	0	0.001168	0	0
CADPS	8618	broad.mit.edu	37	3	62385122	62385122	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:62385122T>C	ENST00000383710.4	-	30	4370	c.4021A>G	c.(4021-4023)Agc>Ggc	p.S1341G	CADPS_ENST00000283269.9_Missense_Mutation_p.S1302G|CADPS_ENST00000357948.3_Missense_Mutation_p.S1262G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1341	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCCTTCATGCTGATGCCCTGC	0.517000													14	282					0	0	0.002450	0	0
OR4C12	283093	broad.mit.edu	37	11	50003262	50003262	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:50003262G>T	ENST00000335238.4	-	1	809	c.776C>A	c.(775-777)tCa>tAa	p.S259*		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S259*(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AGTGGTCACTGAGCGCAGATA	0.433000													8	146					5.18039e-06	6.61561e-06	0.003080	1	0
STRIP2	57464	broad.mit.edu	37	7	129098167	129098167	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:129098167A>T	ENST00000249344.2	+	10	1190	c.1150A>T	c.(1150-1152)Acc>Tcc	p.T384S	STRIP2_ENST00000435494.2_Missense_Mutation_p.T384S	NM_020704.2	NP_065755.1			striatin interacting protein 2																		TGGAGAACGAACCTTGGATGG	0.577000													5	47					0	0	0.001984	0	0
SNAPC1	6617	broad.mit.edu	37	14	62259600	62259600	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:62259600A>T	ENST00000216294.4	+	9	1156	c.1052A>T	c.(1051-1053)aAt>aTt	p.N351I		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	351	Poly-Glu.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		GAAGAAGAGAATGAAAGTTTG	0.333000													8	313					0	0	0.010729	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651281	121651281	+	Silent	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:121651281T>A	ENST00000393386.2	+	12	2592	c.2181T>A	c.(2179-2181)gcT>gcA	p.A727A	PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Silent_p.A727A	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	727					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CACCTCATGCTTTTACCCCAT	0.498000													28	201					0	0	0.007291	0	0
FAT3	120114	broad.mit.edu	37	11	92623945	92623945	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:92623945G>T	ENST00000298047.6	+	27	13453	c.13436G>T	c.(13435-13437)aGc>aTc	p.S4479I	FAT3_ENST00000409404.2_Missense_Mutation_p.S4447I|FAT3_ENST00000525166.1_Missense_Mutation_p.S4329I|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000533797.1_Missense_Mutation_p.S782I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4479	Pro-rich.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCACACTGAGCCCAGACTGC	0.617000										TCGA Ovarian(4;0.039)			9	40					0.000673444	0.000760787	0.008291	1	0
KCNT2	343450	broad.mit.edu	37	1	196434485	196434485	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:196434485C>A	ENST00000367433.5	-	8	677	c.576G>T	c.(574-576)caG>caT	p.Q192H	KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.Q192H|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.Q192H			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	192						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACATTGCAGACTGTGTACGCT	0.279000													29	173					3.99451e-17	6.75377e-17	0.009535	1	0
NRXN1	9378	broad.mit.edu	37	2	50847160	50847160	+	Splice_Site	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:50847160C>T	ENST00000404971.1	-	9	2779	c.1440_splice	c.e9+1	p.E480_splice	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Splice_Site_p.E432_splice|NRXN1_ENST00000406859.3_Splice_Site_p.E440_splice|NRXN1_ENST00000406316.2_Splice_Site_p.E440_splice|NRXN1_ENST00000401669.2_Splice_Site_p.E440_splice|NRXN1_ENST00000405472.3_Splice_Site_p.E432_splice	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	440	Laminin G-like 3.				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)			CGATATTTACCTCTTTGAGAC	0.468000													5	34					0	0	0.000602	0	0
NUP188	23511	broad.mit.edu	37	9	131760828	131760828	+	Silent	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr9:131760828A>T	ENST00000372577.2	+	32	3462	c.3441A>T	c.(3439-3441)ccA>ccT	p.P1147P		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1147					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCCTAGTTCCAGCCTCAGTGA	0.572000													14	61					0	0	0.004990	0	0
LRPPRC	10128	broad.mit.edu	37	2	44145421	44145421	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:44145421G>T	ENST00000260665.7	-	28	3070	c.3013C>A	c.(3013-3015)Cag>Aag	p.Q1005K		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1005					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGAACTTCCTGGTTACCCTCT	0.348000													7	130					0.000274275	0.000316645	0.004482	1	0
PKDREJ	10343	broad.mit.edu	37	22	46657468	46657468	+	Silent	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr22:46657468A>G	ENST00000253255.5	-	1	1751	c.1752T>C	c.(1750-1752)tgT>tgC	p.C584C		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	584	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TAAAATTACTACACTGGACAA	0.358000													6	40					0	0	0.001168	0	0
GRIA1	2890	broad.mit.edu	37	5	153190693	153190693	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:153190693C>G	ENST00000285900.5	+	16	2972	c.2629C>G	c.(2629-2631)Cgg>Ggg	p.R877G	GRIA1_ENST00000340592.5_Missense_Mutation_p.R877G|GRIA1_ENST00000521843.2_Missense_Mutation_p.R808G|GRIA1_ENST00000518783.1_Missense_Mutation_p.R887G|GRIA1_ENST00000518142.1_Missense_Mutation_p.R797G|GRIA1_ENST00000448073.4_Missense_Mutation_p.R887G	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	877					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGAGAATGGTCGGGTGGTCAG	0.587000													4	46					0	0	0.000602	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640628	99640628	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:99640628G>T	ENST00000547776.2	-	13	1770	c.1771C>A	c.(1771-1773)Cag>Aag	p.Q591K	ANKS1B_ENST00000329257.7_Missense_Mutation_p.Q591K|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.Q171K	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	591						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTGTCATCCTGTCGGGAGAGG	0.473000													19	459					7.41877e-09	1.07094e-08	0.012319	1	0
PHACTR3	116154	broad.mit.edu	37	20	58342339	58342339	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:58342339C>A	ENST00000371015.1	+	5	1107	c.640C>A	c.(640-642)Ctg>Atg	p.L214M	PHACTR3_ENST00000359926.3_Missense_Mutation_p.L211M|PHACTR3_ENST00000355648.4_Missense_Mutation_p.L173M|PHACTR3_ENST00000541461.1_Missense_Mutation_p.L173M|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000395636.2_Missense_Mutation_p.L173M	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	214						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GGCTGACTCCCTGGACAGTCC	0.622000													23	240					0.000295444	0.000340772	0.014323	1	0
DICER1	23405	broad.mit.edu	37	14	95570155	95570155	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:95570155T>C	ENST00000526495.1	-	23	3869	c.3578A>G	c.(3577-3579)aAc>aGc	p.N1193S	DICER1_ENST00000343455.3_Missense_Mutation_p.N1193S|DICER1_ENST00000541352.1_Missense_Mutation_p.N1193S|DICER1_ENST00000393063.1_Missense_Mutation_p.N1193S|DICER1_ENST00000527414.1_Missense_Mutation_p.N1193S|DICER1_ENST00000556045.1_Missense_Mutation_p.N91S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1193					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAAGTCTCTGTTAGCTAAATC	0.393000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				26	113					0	0	0.006320	0	0
ZNF462	58499	broad.mit.edu	37	9	109692895	109692895	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr9:109692895G>T	ENST00000277225.5	+	4	6226	c.5937G>T	c.(5935-5937)acG>acT	p.T1979T	ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000457913.1_Silent_p.T1979T|ZNF462_ENST00000441147.2_Silent_p.T824T			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1979					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGCACCCAACGCTCCGAGCCA	0.498000													5	78					0.000602214	0.000681538	0.000602	1	0
COL6A6	131873	broad.mit.edu	37	3	130284197	130284197	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:130284197C>A	ENST00000358511.6	+	3	1052	c.1021C>A	c.(1021-1023)Cac>Aac	p.H341N	COL6A6_ENST00000453409.2_Missense_Mutation_p.H341N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	341	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCTGGTGACCCACCGAGATTC	0.557000													22	327					1.17739e-12	1.88951e-12	0.005443	1	0
KIAA1211L	343990	broad.mit.edu	37	2	99413902	99413902	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:99413902C>A	ENST00000397899.2	-	8	2846	c.2515G>T	c.(2515-2517)Gac>Tac	p.D839Y		NM_207362.2	NP_997245.2			KIAA1211-like																		GGTGGCTGGTCCAAGGTCCCC	0.632000													18	140					1.67942e-08	2.40488e-08	0.006122	1	0
SPP1	6696	broad.mit.edu	37	4	88903958	88903958	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:88903958G>T	ENST00000237623.7	+	6	961	c.813G>T	c.(811-813)ctG>ctT	p.L271L	SPP1_ENST00000360804.4_Silent_p.L258L|SPP1_ENST00000395080.3_Silent_p.L285L|SPP1_ENST00000509659.1_3'UTR	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	285					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		AAGATATGCTGGTTGTAGACC	0.388000													5	79					2.80697e-09	4.09851e-09	0.010729	1	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739635	46739635	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:46739635C>T	ENST00000306448.4	-	2	1329	c.216G>A	c.(214-216)atG>atA	p.M72I	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.M72I	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	72					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCATGGTGGACATCAGGATTT	0.478000													10	276					0	0	0.006214	0	0
STRAP	11171	broad.mit.edu	37	12	16043573	16043573	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:16043573C>T	ENST00000419869.2	+	4	686	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	STRAP_ENST00000538352.1_Missense_Mutation_p.R31C|STRAP_ENST00000025399.6_Missense_Mutation_p.R138C	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	125					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TAAACTGTTACGCATATATGA	0.279000													39	119					0	0	0.013114	0	0
RP1	6101	broad.mit.edu	37	8	55533650	55533650	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:55533650A>T	ENST00000220676.1	+	2	272	c.124A>T	c.(124-126)Aag>Tag	p.K42*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	42	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGTTTCTACAAGAGCGGAGA	0.527000													4	80					0	0	0.009096	0	0
IFI44	10561	broad.mit.edu	37	1	79116197	79116197	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:79116197C>T	ENST00000370747.4	+	2	402	c.317C>T	c.(316-318)aCa>aTa	p.T106I	IFI44_ENST00000545124.1_Intron|IFI44_ENST00000495254.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	106					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TGTGATGTTACAAAATATAAC	0.328000													7	199					0	0	0.001984	0	0
FPR2	2358	broad.mit.edu	37	19	52272424	52272424	+	Silent	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:52272424T>C	ENST00000598776.1	+	2	1285	c.513T>C	c.(511-513)aaT>aaC	p.N171N	FPR2_ENST00000598953.1_Silent_p.N171N|FPR2_ENST00000340023.6_Silent_p.N171N	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	171					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTATTCCAAATGGGGACACAT	0.498000													53	184					0	0	0.014410	0	0
OR5B17	219965	broad.mit.edu	37	11	58126401	58126401	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:58126401G>A	ENST00000357377.3	-	1	141	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGTCCAGCAGGATTAATATG	0.458000													11	148					0	0	0.008291	0	0
GRM8	2918	broad.mit.edu	37	7	126086183	126086183	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:126086183T>A	ENST00000339582.2	-	10	3482	c.2674A>T	c.(2674-2676)Aac>Tac	p.N892Y	GRM8_ENST00000444921.2_Missense_Mutation_p.N892Y|GRM8_ENST00000358373.3_Missense_Mutation_p.N892Y			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	892					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GACTTACTGTTGGTTTCAAGA	0.453000										HNSCC(24;0.065)			9	496					0	0	0.010729	0	0
SYT13	57586	broad.mit.edu	37	11	45265817	45265817	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:45265817C>A	ENST00000020926.3	-	6	1178	c.1067G>T	c.(1066-1068)tGg>tTg	p.W356L		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	356	C2 2.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CATCTCGTTCCACACGGGGTT	0.567000													4	93					0.00909568	0.0096699	0.009096	1	0
SPAM1	6677	broad.mit.edu	37	7	123593777	123593777	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:123593777G>T	ENST00000340011.5	+	3	510	c.153G>T	c.(151-153)tgG>tgT	p.W51C	SPAM1_ENST00000402183.2_Missense_Mutation_p.W51C|SPAM1_ENST00000439500.1_Missense_Mutation_p.W51C|SPAM1_ENST00000460182.1_Missense_Mutation_p.W51C|SPAM1_ENST00000223028.7_Missense_Mutation_p.W51C	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	51					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CTTTCCTCTGGGCCTGGAATG	0.458000													6	89					1.6384e-10	2.47524e-10	0.001984	1	0
C4BPA	722	broad.mit.edu	37	1	207300151	207300151	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:207300151G>T	ENST00000367070.3	+	7	994	c.800G>T	c.(799-801)tGc>tTc	p.C267F		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	267	Sushi 4.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GTGTTTAAGTGCCAAAAAGGT	0.418000													16	279					2.4624e-09	3.6205e-09	0.008871	1	0
EXOC2	55770	broad.mit.edu	37	6	576816	576816	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:576816T>C	ENST00000230449.4	-	12	1394	c.1259A>G	c.(1258-1260)cAt>cGt	p.H420R	EXOC2_ENST00000448181.3_Missense_Mutation_p.H15R	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	420					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTGACTGAGATGGCCCAACAC	0.498000													6	110					0	0	0.001168	0	0
SNTG1	54212	broad.mit.edu	37	8	51617208	51617208	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:51617208G>C	ENST00000522124.1	+	16	1748	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	SNTG1_ENST00000276467.5_Missense_Mutation_p.E363Q|SNTG1_ENST00000518864.1_Missense_Mutation_p.E363Q|SNTG1_ENST00000517473.1_Missense_Mutation_p.E363Q	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	363	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CGTGCAGTCTGAGTCTGGGGA	0.532000													14	201					0	0	0.007413	0	0
OR13G1	441933	broad.mit.edu	37	1	247835758	247835758	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:247835758C>G	ENST00000359688.2	-	1	607	c.586G>C	c.(586-588)Gtg>Ctg	p.V196L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCAACATACACCATCACCTCA	0.453000													6	120					0	0	0.004482	0	0
FAM47C	442444	broad.mit.edu	37	X	37029164	37029164	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:37029164C>A	ENST00000358047.3	+	1	2733	c.2681C>A	c.(2680-2682)tCc>tAc	p.S894Y		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	894										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AACGAGTGTTCCTCAGGGCTG	0.438000													10	109					0.00136819	0.00151582	0.013537	1	0
CSMD1	64478	broad.mit.edu	37	8	2807833	2807833	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:2807833G>C	ENST00000602557.1	-	68	10792	c.10237C>G	c.(10237-10239)Ctg>Gtg	p.L3413V	CSMD1_ENST00000537824.1_Missense_Mutation_p.L3412V|CSMD1_ENST00000400186.3_Missense_Mutation_p.L3236V|CSMD1_ENST00000542608.1_Missense_Mutation_p.L3235V|CSMD1_ENST00000602723.1_Missense_Mutation_p.L3236V|CSMD1_ENST00000520002.1_Missense_Mutation_p.L3413V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3413						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)		AAAGCTTTCAGGAGTAAGTGG	0.398000													5	199					0	0	0.000602	0	0
PASK	23178	broad.mit.edu	37	2	242080011	242080011	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:242080011C>A	ENST00000403638.3	-	3	445	c.354G>T	c.(352-354)tgG>tgT	p.W118C	PASK_ENST00000539818.1_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000234040.4_Missense_Mutation_p.W118C|PASK_ENST00000405260.1_Missense_Mutation_p.W118C|PASK_ENST00000358649.4_Missense_Mutation_p.W118C	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	118					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAGGTGAGGACCACCCTGAGG	0.607000													3	55					0.004672	0.00503047	0.004672	1	0
OR6V1	346517	broad.mit.edu	37	7	142749819	142749819	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:142749819C>A	ENST00000418316.1	+	1	403	c.382C>A	c.(382-384)Ctg>Atg	p.L128M		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CTGCCACCCACTGCGCTATGG	0.597000													40	183					1.15183e-24	2.0177e-24	0.009718	1	0
DEPDC1B	55789	broad.mit.edu	37	5	59943224	59943224	+	Splice_Site	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:59943224C>A	ENST00000265036.5	-	3	518		c.e3+1		DEPDC1B_ENST00000545085.1_Splice_Site|DEPDC1B_ENST00000453022.2_Splice_Site	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				ATGGCACTTACCATCACAACT	0.453000													5	66					3.59834e-05	4.34899e-05	0.001168	1	0
EDA2R	60401	broad.mit.edu	37	X	65824317	65824317	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:65824317G>A	ENST00000374719.3	-	4	354	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	EDA2R_ENST00000456230.2_Nonsense_Mutation_p.Q100*|EDA2R_ENST00000450752.1_Nonsense_Mutation_p.Q100*|EDA2R_ENST00000396050.1_Nonsense_Mutation_p.Q100*|EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000253392.5_Nonsense_Mutation_p.Q100*	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	100					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TCTTGGTCCTGCAGGCCTCCA	0.522000													5	198					0	0	0.001168	0	0
OR2T1	26696	broad.mit.edu	37	1	248569848	248569848	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:248569848C>A	ENST00000366474.1	+	1	553	c.553C>A	c.(553-555)Ctc>Atc	p.L185I		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATACCCTGTCCTCATGAGCCG	0.542000													15	97					3.45872e-05	4.24113e-05	0.004007	1	0
SLC35B4	84912	broad.mit.edu	37	7	133979774	133979774	+	Silent	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:133979774G>C	ENST00000378509.4	-	10	1106	c.807C>G	c.(805-807)gtC>gtG	p.V269V	SLC35B4_ENST00000466599.1_Intron	NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	269						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						CGACGAGCGTGACGGTGAGGG	0.532000													52	501					0	0	0.014410	0	0
RELN	5649	broad.mit.edu	37	7	103474033	103474033	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:103474033T>A	ENST00000424685.2	-	3	583	c.424A>T	c.(424-426)Agt>Tgt	p.S142C	RELN_ENST00000428762.1_Missense_Mutation_p.S142C|RELN_ENST00000343529.5_Missense_Mutation_p.S142C			P78509	RELN_HUMAN	reelin	142	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGATGAAACTGAGGTTGGTT	0.483000													13	186					0	0	0.006122	0	0
PRR5L	79899	broad.mit.edu	37	11	36424881	36424881	+	Silent	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:36424881G>C	ENST00000378867.3	+	4	553	c.198G>C	c.(196-198)ggG>ggC	p.G66G	PRR5L_ENST00000530639.1_Silent_p.G66G|PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000311599.5_Silent_p.G40G|PRR5L_ENST00000527487.1_Silent_p.G66G	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	66										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						TTTTCAAAGGGGGTGGCTTGC	0.493000													7	109					0	0	0.008291	0	0
RAG1	5896	broad.mit.edu	37	11	36597068	36597068	+	Silent	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:36597068G>C	ENST00000299440.5	+	2	2326	c.2214G>C	c.(2212-2214)ctG>ctC	p.L738L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	738					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CCACCCGTCTGGAAGCCTCTC	0.507000									Familial Hemophagocytic Lymphohistiocytosis				15	168					0	0	0.003163	0	0
DOCK2	1794	broad.mit.edu	37	5	169506115	169506115	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:169506115G>T	ENST00000256935.8	+	49	5211	c.5131G>T	c.(5131-5133)Gat>Tat	p.D1711Y	DOCK2_ENST00000520908.1_Missense_Mutation_p.D1203Y|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.D772Y	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1711					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTTTTTGCGGATGAGAAAGC	0.577000													7	40					5.68852e-11	8.68755e-11	0.004482	1	0
NNMT	4837	broad.mit.edu	37	11	114167310	114167310	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:114167310A>G	ENST00000535401.1	+	3	296	c.32A>G	c.(31-33)tAt>tGt	p.Y11C	NNMT_ENST00000299964.3_Missense_Mutation_p.Y11C|RP11-64D24.2_ENST00000544925.1_RNA			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	11					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	AAGGACACCTATCTAAGCCAT	0.458000													13	162					0	0	0.002450	0	0
PLD5	200150	broad.mit.edu	37	1	242451774	242451774	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:242451774G>T	ENST00000442594.2	-	4	618	c.109C>A	c.(109-111)Cac>Aac	p.H37N	PLD5_ENST00000536534.1_Missense_Mutation_p.H129N|PLD5_ENST00000427495.1_Missense_Mutation_p.H67N	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	129						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AGTGATAAGTGAAATGGTGCA	0.373000													17	108					5.03518e-11	7.75541e-11	0.007413	1	0
PKN2	5586	broad.mit.edu	37	1	89279417	89279417	+	Splice_Site	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:89279417G>T	ENST00000370521.3	+	16	2638		c.e16+1		PKN2_ENST00000370513.5_Splice_Site|PKN2_ENST00000370505.3_Splice_Site|PKN2_ENST00000544045.1_Splice_Site	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2						signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CAAGAGCTGTGTGAGTATGCT	0.373000													24	392					7.87624e-14	1.28856e-13	0.002780	1	0
EPT1	85465	broad.mit.edu	37	2	26609319	26609319	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:26609319G>T	ENST00000260585.7	+	9	1129	c.1010G>T	c.(1009-1011)gGa>gTa	p.G337V		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	337					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding										GTAAACCTAGGAGTAGCCTCT	0.443000													13	124					1.5842e-08	2.27369e-08	0.001855	1	0
MYLK	4638	broad.mit.edu	37	3	123457744	123457744	+	Splice_Site	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:123457744C>A	ENST00000360772.3	-	8	966	c.588_splice	c.e8+1	p.K196_splice	MYLK_ENST00000475616.1_Splice_Site_p.K196_splice|MYLK_ENST00000359169.1_Splice_Site_p.K196_splice|MYLK_ENST00000346322.5_Splice_Site_p.K196_splice|MYLK_ENST00000360304.3_Splice_Site_p.K196_splice			Q15746	MYLK_HUMAN	myosin light chain kinase	196	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GAAACCTCACCTTGAGCCAGG	0.522000													8	22					0.000274275	0.000316645	0.004482	1	0
ZNF559	84527	broad.mit.edu	37	19	9453698	9453698	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:9453698G>T	ENST00000393883.2	+	6	2219	c.1571G>T	c.(1570-1572)tGt>tTt	p.C524F	ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.C524F|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Missense_Mutation_p.C444F|ZNF559_ENST00000587557.1_Missense_Mutation_p.C588F|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TATAAGGAATGTGGGCAAACC	0.423000													16	189					2.23348e-06	2.89917e-06	0.004007	1	0
CCDC138	165055	broad.mit.edu	37	2	109455699	109455699	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:109455699A>T	ENST00000295124.4	+	11	1325	c.1265A>T	c.(1264-1266)cAc>cTc	p.H422L	CCDC138_ENST00000412964.2_Missense_Mutation_p.H422L	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	422										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						ATCAAACTTCACGAGCCTTTT	0.358000													8	81					0	0	0.006214	0	0
PPFIA4	8497	broad.mit.edu	37	1	203029443	203029443	+	Silent	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:203029443G>T	ENST00000367240.2	+	21	3146	c.2619G>T	c.(2617-2619)cgG>cgT	p.R873R	PPFIA4_ENST00000599966.1_Silent_p.R388R|PPFIA4_ENST00000447715.2_Silent_p.R872R|PPFIA4_ENST00000414050.2_Silent_p.R601R|PPFIA4_ENST00000272198.6_Silent_p.R388R|PPFIA4_ENST00000295706.4_Silent_p.R388R			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	388					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						AGATCCAGCGGGAGATCGGCA	0.632000													11	160					1.33987e-11	2.11005e-11	0.008291	1	0
SIGLEC12	89858	broad.mit.edu	37	19	52003527	52003527	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:52003527C>A	ENST00000291707.3	-	2	510	c.455G>T	c.(454-456)aGg>aTg	p.R152M	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.R34M	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	152	Ig-like V-type 2.				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)		CACCTCCAGCCTGTATCTTGA	0.587000													9	66					2.80697e-09	4.09851e-09	0.010729	1	0
CHRM2	1129	broad.mit.edu	37	7	136700864	136700864	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:136700864C>A	ENST00000445907.2	+	3	1780	c.1252C>A	c.(1252-1254)Ccc>Acc	p.P418T	CHRM2_ENST00000453373.1_Missense_Mutation_p.P418T|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.P418T|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.P418T|CHRM2_ENST00000402486.3_Missense_Mutation_p.P418T|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.P418T|AC009264.1_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	418					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.P418T(1)|p.P418N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ACCTTGCATCCCCAACACTGT	0.463000													36	362					1.04594e-18	1.79731e-18	0.006230	1	0
MALAT1	378938	broad.mit.edu	37	11	65268079	65268079	+	RNA	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:65268079A>G	ENST00000534336.1	+	0	2847					NR_002819.2																						TGAAGCTAGGAAAAAGGATTC	0.532000													6	56					0	0	0.001984	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325226	150325226	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:150325226C>T	ENST00000328902.5	-	3	676	c.460G>A	c.(460-462)Gtt>Att	p.V154I	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	154							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)		TGACCCAGAACCCCCACTCCA	0.637000													6	308					0	0	0.003080	0	0
ARID1A	8289	broad.mit.edu	37	1	27097665	27097665	+	Nonsense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:27097665C>G	ENST00000324856.7	+	12	3625	c.3254C>G	c.(3253-3255)tCa>tGa	p.S1085*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S702*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S1085*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1085	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGGGCACATCAAGCAGTGCT	0.478000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								13	102					0	0	0.013537	0	0
ABCA13	154664	broad.mit.edu	37	7	48311678	48311678	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:48311678G>A	ENST00000435803.1	+	17	2439	c.2415G>A	c.(2413-2415)caG>caA	p.Q805Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	805					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						GGAAAATGCAGACTCTCGGAA	0.353000													4	61					0	0	0.001168	0	0
TRHDE	29953	broad.mit.edu	37	12	73056961	73056961	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:73056961G>A	ENST00000261180.4	+	19	3157	c.3061G>A	c.(3061-3063)Gct>Act	p.A1021T		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1021					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GTTAGGAAAAGCTCTAAGACA	0.398000													3	55					0	0	0.009096	0	0
KIF13B	23303	broad.mit.edu	37	8	29025056	29025056	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:29025056C>A	ENST00000524189.1	-	11	1030	c.992G>T	c.(991-993)aGt>aTt	p.S331I	KIF13B_ENST00000521515.1_Missense_Mutation_p.S331I	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	331					microtubule-based movement|protein targeting|signal transduction|T cell activation	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)		AGCTGCAGGACTCACAGTAGC	0.483000													6	139					0.00198382	0.00217308	0.001984	1	0
CD163L1	283316	broad.mit.edu	37	12	7559427	7559427	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:7559427C>A	ENST00000313599.3	-	5	845	c.788G>T	c.(787-789)aGg>aTg	p.R263M	CD163L1_ENST00000396630.1_Missense_Mutation_p.R263M|CD163L1_ENST00000416109.2_Missense_Mutation_p.R273M			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	263	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACCTACAAGCCTTAGTTCAAG	0.443000													22	151					4.72057e-08	6.64669e-08	0.003954	1	0
DAB2	1601	broad.mit.edu	37	5	39383131	39383131	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:39383131C>A	ENST00000545653.1	-	9	1397	c.867G>T	c.(865-867)tcG>tcT	p.S289S	DAB2_ENST00000509337.1_Silent_p.S289S|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000320816.6_Silent_p.S310S	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	310					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.S310S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GAGAATCAAACGAAGAAGGTG	0.458000													26	365					3.73988e-18	6.39171e-18	0.006320	1	0
LOC653786	653786	broad.mit.edu	37	16	22588000	22588000	+	RNA	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:22588000G>T	ENST00000550753.1	+	0	2475					NR_003676.2																						AGCTCCTGTGGTGAGTGGCCT	0.537000													11	128					4.3838e-07	5.96632e-07	0.001855	1	0
OR5T3	390154	broad.mit.edu	37	11	56020456	56020456	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:56020456G>T	ENST00000303059.3	+	1	781	c.781G>T	c.(781-783)Gct>Tct	p.A261S		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A261P(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GATGCATTCTGCTAAGGGAAG	0.408000													18	338					5.35267e-07	7.26927e-07	0.007413	1	0
CNN1	1264	broad.mit.edu	37	19	11660455	11660455	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:11660455A>T	ENST00000592923.1	+	8	1166	c.589A>T	c.(589-591)Atg>Ttg	p.M197L	CNN1_ENST00000535659.2_Missense_Mutation_p.M197L|CNN1_ENST00000544952.1_Missense_Mutation_p.M227L|CNN1_ENST00000252456.2_Missense_Mutation_p.M247L			P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	247					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						CAGCCTGCAGATGGGCAGCAA	0.647000													14	120					0	0	0.002450	0	0
NIPAL3	57185	broad.mit.edu	37	1	24795651	24795651	+	Silent	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:24795651C>G	ENST00000003912.3	+	13	1666	c.951C>G	c.(949-951)gtC>gtG	p.V317V	NIPAL3_ENST00000374399.4_Silent_p.V399V			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	399						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CCTACCGAGTCCTAGAGCACA	0.512000													4	51					0	0	0.009096	0	0
TAF2	6873	broad.mit.edu	37	8	120774807	120774807	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:120774807C>A	ENST00000378164.2	-	19	2704	c.2406G>T	c.(2404-2406)ctG>ctT	p.L802L	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	802					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CAGAGTTGGCCAGGGCATCAA	0.348000													31	63					3.99451e-17	6.75377e-17	0.009535	1	0
FMO1	2326	broad.mit.edu	37	1	171244600	171244600	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:171244600G>C	ENST00000354841.4	+	3	568	c.437G>C	c.(436-438)tGc>tCc	p.C146S	FMO1_ENST00000402921.2_Missense_Mutation_p.C83S|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.C146S			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	146					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTCATGGTCTGCACTGGCTTT	0.438000													21	321					0	0	0.014323	0	0
XIRP2	129446	broad.mit.edu	37	2	168106256	168106256	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:168106256C>A	ENST00000409195.1	+	9	8443	c.8354C>A	c.(8353-8355)cCt>cAt	p.P2785H	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2785H|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2563H	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2610					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTACAATTGCCTACAGAATCC	0.413000													9	246					6.42651e-13	1.03397e-12	0.010729	1	0
DAB1	1600	broad.mit.edu	37	1	57480733	57480733	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:57480733G>C	ENST00000371236.2	-	12	1530	c.1267C>G	c.(1267-1269)Cct>Gct	p.P423A	DAB1_ENST00000420954.2_Missense_Mutation_p.P421A|DAB1_ENST00000371231.1_Missense_Mutation_p.P456A|DAB1_ENST00000371234.4_Missense_Mutation_p.P423A|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.P405A|DAB1_ENST00000439789.2_Missense_Mutation_p.P337A			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	456					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ACGGGCGGAGGCTGGGCCATC	0.587000													5	119					0	0	0.001984	0	0
SNAP91	9892	broad.mit.edu	37	6	84311042	84311042	+	Silent	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:84311042G>C	ENST00000428679.2	-	16	1865	c.1272C>G	c.(1270-1272)gcC>gcG	p.A424A	SNAP91_ENST00000521485.1_Silent_p.A424A|SNAP91_ENST00000195649.6_Silent_p.A424A|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000369694.2_Silent_p.A424A|SNAP91_ENST00000521743.1_Silent_p.A424A|SNAP91_ENST00000520302.1_Silent_p.A422A|SNAP91_ENST00000439399.2_Silent_p.A424A			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	424	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TAGTAGTGGAGGCAGAAGCTG	0.443000													4	44					0	0	0.009096	0	0
SLC6A18	348932	broad.mit.edu	37	5	1243773	1243773	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:1243773C>G	ENST00000324642.3	+	9	1358	c.1235C>G	c.(1234-1236)aCc>aGc	p.T412S	SLC6A18_ENST00000296821.4_Missense_Mutation_p.T341S	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	412					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ATGCTGTTCACCTTGGGGCTA	0.662000													3	98					0	0	0.009096	0	0
TBX3	6926	broad.mit.edu	37	12	115114156	115114156	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:115114156G>C	ENST00000349155.2	-	5	1964	c.1001C>G	c.(1000-1002)tCt>tGt	p.S334C	TBX3_ENST00000257566.3_Missense_Mutation_p.S354C	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	354					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGCGGCTGGAGAAGAAGCCTG	0.512000													3	69					0	0	0.000602	0	0
TRIO	7204	broad.mit.edu	37	5	14420035	14420035	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:14420035G>T	ENST00000344204.4	+	34	5132	c.5108G>T	c.(5107-5109)cGc>cTc	p.R1703L	TRIO_ENST00000537187.1_Missense_Mutation_p.R1703L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1703	SH3 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACAACTGACCGCTCCCCAGCG	0.602000													7	112					2.7689e-08	3.93819e-08	0.001984	1	0
TRAV3	28690	broad.mit.edu	37	14	22192023	22192023	+	RNA	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:22192023G>T	ENST00000390425.2	+	0	64																											TGCTGACACAGGGTTGCTGGT	0.597000													8	42					0.00448238	0.00485111	0.004482	1	0
MYBPC2	4606	broad.mit.edu	37	19	50944203	50944203	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:50944203G>A	ENST00000357701.5	+	8	690	c.639G>A	c.(637-639)gaG>gaA	p.E213E		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	213					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TCCCCCCGGAGATTTGGGAGC	0.572000													11	34					0	0	0.010729	0	0
FER1L6	654463	broad.mit.edu	37	8	125115453	125115453	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:125115453C>A	ENST00000522917.1	+	39	5398	c.5192C>A	c.(5191-5193)gCc>gAc	p.A1731D	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.A1731D	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1731						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGTGATCTTGCCAAGTTTGAA	0.468000													20	485					5.35356e-11	8.20576e-11	0.002780	1	0
BACH2	60468	broad.mit.edu	37	6	90661568	90661568	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:90661568C>T	ENST00000257749.4	-	7	964	c.257G>A	c.(256-258)gGc>gAc	p.G86D	BACH2_ENST00000343122.3_Missense_Mutation_p.G86D|BACH2_ENST00000537989.1_Missense_Mutation_p.G86D|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	86	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CGGCCCAAAGCCCCTGGCTGT	0.522000													6	76					0	0	0.003080	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26234840	26234840	+	Missense_Mutation	SNP	G	G	A	rs144176369		TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:26234840G>A	ENST00000244534.5	-	1	376	c.322C>T	c.(322-324)Ctc>Ttc	p.L108F		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	108	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTCTTGTTGAGTTTGAAGGAG	0.542000													23	84					0	0	0.003954	0	0
SNHG14	104472715	broad.mit.edu	37	15	25230254	25230254	+	RNA	SNP	T	T	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr15:25230254T>G	ENST00000551631.2	+	0	887				SNORD64_ENST00000386683.1_RNA|SNHG14_ENST00000551361.1_RNA	NR_001293.1																						GCTGGATTTGTGATGAGCTGT	0.398000													8	129					0	0	0.008291	0	0
UNC13B	10497	broad.mit.edu	37	9	35403482	35403482	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr9:35403482G>T	ENST00000378495.3	+	38	4598	c.4376G>T	c.(4375-4377)cGg>cTg	p.R1459L	UNC13B_ENST00000396787.1_Missense_Mutation_p.R1490L|UNC13B_ENST00000378496.4_Missense_Mutation_p.R1478L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1459	C2 3.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGTATGTTCCGGCCTTTCGTG	0.517000													11	129					0.000978159	0.00109912	0.010729	1	0
OR51G2	81282	broad.mit.edu	37	11	4936138	4936138	+	Silent	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:4936138A>G	ENST00000322013.3	-	1	784	c.756T>C	c.(754-756)gcT>gcC	p.A252A	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAGCAGCACAGCACAGATGT	0.542000													21	127					0	0	0.005443	0	0
GPR133	283383	broad.mit.edu	37	12	131471658	131471658	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:131471658T>C	ENST00000261654.5	+	6	1068	c.509T>C	c.(508-510)gTc>gCc	p.V170A	GPR133_ENST00000535015.1_Missense_Mutation_p.V202A	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	170					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGGACTCATGTCCTATTTACA	0.498000													9	57					0	0	0.004482	0	0
DENND1C	79958	broad.mit.edu	37	19	6468428	6468428	+	Silent	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:6468428A>G	ENST00000381480.2	-	22	1720	c.1608T>C	c.(1606-1608)gaT>gaC	p.D536D	DENND1C_ENST00000543576.1_Silent_p.D492D	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	536						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GGCACCCCTCATCCTCAGGGC	0.582000													3	32					0	0	0.009096	0	0
FSIP2	401024	broad.mit.edu	37	2	186697850	186697850	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:186697850C>A	ENST00000343098.5	+	23	20888	c.20888C>A	c.(20887-20889)tCt>tAt	p.S6963Y	FSIP2_ENST00000424728.1_Missense_Mutation_p.S6874Y	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAACAAGGATCTAAAATGCTG	0.383000													11	128					7.93312e-07	1.05691e-06	0.002450	1	0
HOXD10	3236	broad.mit.edu	37	2	176983853	176983853	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:176983853C>T	ENST00000249501.4	+	2	1172	c.917C>T	c.(916-918)aCc>aTc	p.T306I	HOXD10_ENST00000490088.2_3'UTR	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	306						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GTTAACCTCACCGACAGGCAG	0.488000													20	125					0	0	0.005443	0	0
CUBN	8029	broad.mit.edu	37	10	17113474	17113474	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:17113474G>C	ENST00000377833.4	-	19	2641	c.2576C>G	c.(2575-2577)aCt>aGt	p.T859S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	859	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTCAAAGACAGTGAAGTTGAG	0.398000													14	154					0	0	0.004007	0	0
TGFB2	7042	broad.mit.edu	37	1	218614643	218614643	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:218614643G>T	ENST00000366929.4	+	8	1735	c.1268G>T	c.(1267-1269)gGc>gTc	p.G423V	TGFB2_ENST00000366930.4_Missense_Mutation_p.G395V|TGFB2_ENST00000479322.1_3'UTR	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	395					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TACTACATTGGCAAAACACCC	0.388000													39	162					8.20599e-20	1.41587e-19	0.011902	1	0
SLC45A2	51151	broad.mit.edu	37	5	33964047	33964047	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:33964047T>C	ENST00000382102.3	-	3	694	c.637A>G	c.(637-639)Aca>Gca	p.T213A	SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000342059.3_Missense_Mutation_p.T154A|SLC45A2_ENST00000296589.4_Missense_Mutation_p.T213A|SLC45A2_ENST00000509381.1_Intron	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	213					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TGGAATTCTGTACCCAACAGT	0.478000													9	107					0	0	0.008291	0	0
ARID2	196528	broad.mit.edu	37	12	46230774	46230774	+	Splice_Site	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:46230774G>T	ENST00000334344.6	+	8	1195	c.1023_splice	c.e8+1	p.E341_splice	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Splice_Site_p.E192_splice	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	341					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTGCAGCTGAGGTAAGCATGT	0.328000			"""N, S, F"""		hepatocellular carcinoma								23	110					1.42536e-11	2.23353e-11	0.004656	1	0
BAI1	575	broad.mit.edu	37	8	143558885	143558885	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:143558885G>C	ENST00000517894.1	+	6	2256	c.1362G>C	c.(1360-1362)aaG>aaC	p.K454N	BAI1_ENST00000323289.5_Missense_Mutation_p.K454N			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	454	TSP type-1 3.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGCAAACCAAGTTCTGCAACA	0.662000													8	11					0	0	0.004482	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C_ENST00000438826.3_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000519970.1_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													4	136					0	0	0.009096	0	0
FAM47A	158724	broad.mit.edu	37	X	34148840	34148840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:34148840G>T	ENST00000346193.3	-	1	1607	c.1556C>A	c.(1555-1557)tCg>tAg	p.S519*		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	519										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGGAGGCTCCGAGCGGAGACT	0.662000													5	62					5.9392e-07	8.02268e-07	0.001168	1	0
TLR4	7099	broad.mit.edu	37	9	120466790	120466790	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr9:120466790G>T	ENST00000355622.6	+	1	141	c.40G>T	c.(40-42)Gcc>Tcc	p.A14S	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_5'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	14					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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 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 NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|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|T-helper 1 type immune response|Toll signaling pathway|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						TCTGATCCCAGCCATGGCCTT	0.602000													22	108					4.26978e-12	6.77478e-12	0.003330	1	0
ADAMTS8	11095	broad.mit.edu	37	11	130275920	130275920	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:130275920G>A	ENST00000257359.6	-	9	2909	c.2203C>T	c.(2203-2205)Ctg>Ttg	p.L735L		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	735	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCCGTCTTCAGCGCCAGGTAG	0.567000													33	261					0	0	0.006999	0	0
SERPINB7	8710	broad.mit.edu	37	18	61459636	61459636	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr18:61459636G>A	ENST00000398019.2	+	3	503	c.178G>A	c.(178-180)Gtt>Att	p.V60I	SERPINB7_ENST00000336429.2_Missense_Mutation_p.V60I|SERPINB7_ENST00000540675.1_Intron|SERPINB7_ENST00000546027.1_Missense_Mutation_p.V60I	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	60					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GTTGCTTCATGTTAACACTGC	0.388000													9	93					0	0	0.008291	0	0
FAT3	120114	broad.mit.edu	37	11	92086419	92086419	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:92086419T>A	ENST00000298047.6	+	1	1158	c.1141T>A	c.(1141-1143)Tac>Aac	p.Y381N	FAT3_ENST00000409404.2_Missense_Mutation_p.Y381N|FAT3_ENST00000525166.1_Missense_Mutation_p.Y231N|FAT3_ENST00000541502.1_Missense_Mutation_p.Y381N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	381	Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAAAGAAGTGTACGATGTGAG	0.408000										TCGA Ovarian(4;0.039)			8	45					0	0	0.003080	0	0
SUN3	256979	broad.mit.edu	37	7	48026964	48026964	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:48026964C>T	ENST00000453192.2	-	11	1244	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	SUN3_ENST00000297325.4_Missense_Mutation_p.R346Q|SUN3_ENST00000412142.1_Missense_Mutation_p.R258Q|SUN3_ENST00000395572.2_Missense_Mutation_p.R346Q|SUN3_ENST00000473723.1_5'UTR			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	346	SUN.					integral to membrane		p.R346L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GACCCTGAATCGATATAAACA	0.383000													14	250					0	0	0.004990	0	0
RIMS2	9699	broad.mit.edu	37	8	104928756	104928756	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:104928756G>T	ENST00000507740.1	+	6	1687	c.1451G>T	c.(1450-1452)aGg>aTg	p.R484M	RIMS2_ENST00000262231.10_Missense_Mutation_p.R531M|RIMS2_ENST00000436393.2_Missense_Mutation_p.R454M|RIMS2_ENST00000406091.3_Missense_Mutation_p.R676M	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	754					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTAGTTTCAAGGCCTATTGGG	0.348000										HNSCC(12;0.0054)			5	118					0.000602214	0.000681538	0.000602	1	0
NTF3	4908	broad.mit.edu	37	12	5603743	5603743	+	Silent	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:5603743G>A	ENST00000423158.3	+	2	614	c.402G>A	c.(400-402)gaG>gaA	p.E134E	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Silent_p.E121E	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	121					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						ATCTCATGGAGGATTACGTGG	0.607000													6	156					0	0	0.001984	0	0
LAMC2	3918	broad.mit.edu	37	1	183177098	183177098	+	Silent	SNP	C	C	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:183177098C>G	ENST00000264144.4	+	2	227	c.162C>G	c.(160-162)ctC>ctG	p.L54L	LAMC2_ENST00000493293.1_Silent_p.L54L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	54	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	p.L54L(1)|p.L54>?(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TCCGCTGCCTCAACTGCAATG	0.488000													137	931					0	0	0.014410	0	0
KRT33A	3883	broad.mit.edu	37	17	39503366	39503366	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:39503366C>T	ENST00000007735.3	-	4	741	c.697G>A	c.(697-699)Gag>Aag	p.E233K		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	233	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ACCAGGGCCTCATACTGACTC	0.637000													9	85					0	0	0.006214	0	0
LRIT2	340745	broad.mit.edu	37	10	85984516	85984516	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:85984516G>T	ENST00000372113.4	-	2	470	c.465C>A	c.(463-465)taC>taA	p.Y155*	LRIT2_ENST00000538192.1_Nonsense_Mutation_p.Y155*	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	155						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						ATAGGTCAAGGTAGGTCAGGC	0.537000													10	150					3.07112e-06	3.9742e-06	0.010729	1	0
ENTPD6	955	broad.mit.edu	37	20	25193996	25193996	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:25193996G>C	ENST00000360031.2	+	5	730	c.548G>C	c.(547-549)gGc>gCc	p.G183A	ENTPD6_ENST00000433259.2_Missense_Mutation_p.G184A|ENTPD6_ENST00000354989.5_Missense_Mutation_p.G167A|ENTPD6_ENST00000376652.4_Missense_Mutation_p.G184A	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	184						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GCCACAGCTGGCTTACGCCTG	0.567000													5	79					0	0	0.001168	0	0
MACF1	23499	broad.mit.edu	37	1	39927704	39927704	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:39927704G>A	ENST00000564288.1	+	93	22450	c.21673G>A	c.(21673-21675)Gat>Aat	p.D7225N	MACF1_ENST00000567887.1_Missense_Mutation_p.D7262N|MACF1_ENST00000317713.7_Missense_Mutation_p.D5166N|MACF1_ENST00000539005.1_Missense_Mutation_p.D5036N|MACF1_ENST00000361689.2_Missense_Mutation_p.D5166N|MACF1_ENST00000545844.1_Missense_Mutation_p.D5166N|MACF1_ENST00000372915.3_Missense_Mutation_p.D7124N|MACF1_ENST00000289893.4_Missense_Mutation_p.D5668N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7124	C-terminal tail (By similarity).|Ser-rich.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAAAATCGAAGATGAGGTAAG	0.393000													13	108					0	0	0.001855	0	0
OR4K1	79544	broad.mit.edu	37	14	20403887	20403887	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:20403887G>C	ENST00000285600.4	+	1	121	c.62G>C	c.(61-63)tGg>tCg	p.W21S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCTAATTCCTGGGGACTTCAA	0.353000													20	528					0	0	0.010504	0	0
TRPC1	7220	broad.mit.edu	37	3	142503642	142503642	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:142503642A>G	ENST00000273482.6	+	6	1346	c.955A>G	c.(955-957)Act>Gct	p.T319A	TRPC1_ENST00000476941.1_Missense_Mutation_p.T353A	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	353					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GAAGATAATGACTGTTTTGAC	0.433000													12	61					0	0	0.001855	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585148	70585148	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:70585148G>A	ENST00000260126.3	-	10	3209	c.2503C>T	c.(2503-2505)Ccg>Tcg	p.P835S	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P780S	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	835						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCCAGCCCCGGGTCCGCAGAG	0.547000													9	135					0	0	0.006214	0	0
LSAMP	4045	broad.mit.edu	37	3	115529250	115529250	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:115529250C>T	ENST00000490035.1	-	7	1430	c.931G>A	c.(931-933)Gtg>Atg	p.V311M	LSAMP_ENST00000539563.1_Missense_Mutation_p.V331M	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	311					cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		ATTCCTCTCACCGACCCAGGT	0.458000													4	31					0	0	0.000602	0	0
AKAP6	9472	broad.mit.edu	37	14	33290911	33290911	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:33290911G>A	ENST00000280979.4	+	13	4062	c.3892G>A	c.(3892-3894)Gag>Aag	p.E1298K	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1298					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)		TGAACTCTATGAGGACAACCA	0.433000													5	109					0	0	0.001168	0	0
IGLV3-22	28795	broad.mit.edu	37	22	23047050	23047050	+	RNA	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr22:23047050T>C	ENST00000390307.2	+	0	152																											ACCCTCGGTGTCAGTGTCCCC	0.552000													5	89					0	0	0.001168	0	0
HMCN1	83872	broad.mit.edu	37	1	186059944	186059944	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:186059944G>A	ENST00000271588.4	+	64	10011	c.9782G>A	c.(9781-9783)gGa>gAa	p.G3261E	HMCN1_ENST00000367492.2_Missense_Mutation_p.G3261E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3261	Ig-like C2-type 31.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTCCTTCTAGGAGAAAATGTT	0.398000													14	247					0	0	0.004990	0	0
DZIP3	9666	broad.mit.edu	37	3	108409751	108409751	+	Splice_Site	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:108409751G>T	ENST00000361582.3	+	32	3863		c.e32+1		DZIP3_ENST00000463306.1_3'UTR	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3						protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CTGATACAAGGTCGGGGTGTC	0.468000													4	92					0.00909568	0.0096699	0.009096	1	0
OR10A2	341276	broad.mit.edu	37	11	6891362	6891362	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:6891362G>T	ENST00000307322.4	+	1	439	c.377G>T	c.(376-378)aGg>aTg	p.R126M		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R126M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATGAACCAAAGGACTCGTGCC	0.532000													24	308					9.39395e-14	1.53487e-13	0.006320	1	0
IGKV3D-11	28876	broad.mit.edu	37	2	90212112	90212112	+	RNA	SNP	C	C	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:90212112C>T	ENST00000390277.2	+	0	301																											GGCTCCTCATCTATGATGCAT	0.597000													29	94					0	0	0.006320	0	0
TYR	7299	broad.mit.edu	37	11	88911450	88911450	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:88911450C>A	ENST00000263321.5	+	1	831	c.329C>A	c.(328-330)cCa>cAa	p.P110Q	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	110					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TTTTGGGGACCAAACTGCACA	0.473000													10	213					2.17888e-05	2.6848e-05	0.006214	1	0
PAPOLA	10914	broad.mit.edu	37	14	97008599	97008599	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr14:97008599G>T	ENST00000216277.8	+	13	1355	c.1135G>T	c.(1135-1137)Gca>Tca	p.A379S	PAPOLA_ENST00000392990.2_Missense_Mutation_p.A379S	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	379					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TGTACTTCTAGCAAGTGCACC	0.338000													5	46					1.23904e-05	1.55095e-05	0.000602	1	0
C17orf64	124773	broad.mit.edu	37	17	58506867	58506867	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:58506867C>A	ENST00000269127.4	+	5	658	c.574C>A	c.(574-576)Caa>Aaa	p.Q192K		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	192										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			GACCCCAGGTCAAGGGAGCCC	0.592000													10	62					6.40141e-05	7.66349e-05	0.010729	1	0
PLB1	151056	broad.mit.edu	37	2	28828767	28828767	+	Silent	SNP	A	A	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:28828767A>G	ENST00000422425.2	+	41	3020	c.2976A>G	c.(2974-2976)ccA>ccG	p.P992P	PLB1_ENST00000541605.1_Intron|PLB1_ENST00000327757.5_Silent_p.P1003P	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1003	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GCATCCACCCAAATCAGAAAT	0.517000													115	492					0	0	0.014410	0	0
RFTN2	130132	broad.mit.edu	37	2	198540116	198540116	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:198540116G>T	ENST00000295049.3	-	1	603	c.67C>A	c.(67-69)Ctg>Atg	p.L23M		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	23						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GGTCTCTTCAGGGTAGAAAAT	0.383000													23	253					1.75199e-13	2.83687e-13	0.007291	1	0
CH25H	9023	broad.mit.edu	37	10	90966765	90966765	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr10:90966765A>T	ENST00000371852.2	-	1	306	c.285T>A	c.(283-285)caT>caA	p.H95Q		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	95					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		CAAACATCACATGCTGGTAGA	0.667000													7	47					0	0	0.006214	0	0
OR5D13	390142	broad.mit.edu	37	11	55541512	55541512	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:55541512T>C	ENST00000361760.1	+	1	599	c.599T>C	c.(598-600)cTa>cCa	p.L200P		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				AGCCAGAGGCTATGCTTTATT	0.368000													12	272					0	0	0.013537	0	0
VRK2	7444	broad.mit.edu	37	2	58315576	58315576	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:58315576C>A	ENST00000435505.2	+	9	1190	c.445C>A	c.(445-447)Cga>Aga	p.R149R	VRK2_ENST00000412104.2_Silent_p.R149R|VRK2_ENST00000440705.2_Silent_p.R126R|VRK2_ENST00000417641.2_Silent_p.R149R|VRK2_ENST00000340157.4_Silent_p.R149R			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	149	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.R149R(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						ATTAGGTATCCGAATGGTAAG	0.338000													18	292					5.03518e-11	7.75541e-11	0.007413	1	0
CCNH	902	broad.mit.edu	37	5	86705175	86705175	+	Silent	SNP	C	C	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:86705175C>A	ENST00000508855.1	-	2	76	c.24G>T	c.(22-24)acG>acT	p.T8T	CCNH_ENST00000513499.1_5'UTR|CCNH_ENST00000504878.1_Silent_p.T8T|CCNH_ENST00000256897.4_Silent_p.T82T			P51946	CCNH_HUMAN	cyclin H	82					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		ACATACAAGCCGTACCCTAAG	0.289000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					6	25					0.00116845	0.00129793	0.001168	1	0
TTLL7	79739	broad.mit.edu	37	1	84414310	84414310	+	Splice_Site	DEL	C	C	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:84414310delC	ENST00000260505.8	-	5	725		c.e5+1		TTLL7_ENST00000477524.1_Splice_Site	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7						cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ATAAAGATTACTTGGTCATAT	0.313													15	233	---	---	---	---					
CHD1L	9557	broad.mit.edu	37	1	146714468	146714469	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:146714468_146714469insG	ENST00000369258.4	+	1	135_136	c.115_116insG	c.(115-117)gggfs	p.G39fs	CHD1L_ENST00000361293.5_5'UTR|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Frame_Shift_Ins_p.G39fs|CHD1L_ENST00000369259.3_Frame_Shift_Ins_p.G39fs	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	39					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CTTACGGCAGTGGGGGCTGACA	0.728													2	4	---	---	---	---					
THBS3	7059	broad.mit.edu	37	1	155174750	155174750	+	Splice_Site	DEL	T	T	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:155174750delT	ENST00000368378.3	-	4	564		c.e4-2		THBS3_ENST00000541990.1_Intron|THBS3_ENST00000487250.1_Splice_Site|THBS3_ENST00000457183.2_Intron|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000428962.2_Intron|RP11-263K19.4_ENST00000430312.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3						cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CACAAAGCCCTGGGGGGATAG	0.557													9	49	---	---	---	---					
CR1	1378	broad.mit.edu	37	1	207741268	207741269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:207741268_207741269insC	ENST00000367049.4	+	25	4052_4053	c.4052_4053insC	c.(4051-4053)gccfs	p.A1351fs	CR1_ENST00000367051.1_Frame_Shift_Ins_p.A901fs|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Frame_Shift_Ins_p.A901fs|CR1_ENST00000367053.1_Frame_Shift_Ins_p.A901fs|CR1_ENST00000367052.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	901	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TACACATGCGACCCCCACCCAG	0.520													9	283	---	---	---	---					
HSD11B1	3290	broad.mit.edu	37	1	209878313	209878314	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:209878313_209878314insC	ENST00000367028.2	+	2	195_196	c.26_27insC	c.(25-27)cccfs	p.P9fs	RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Frame_Shift_Ins_p.P9fs|HSD11B1_ENST00000367027.3_Frame_Shift_Ins_p.P9fs	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	9					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding	p.L9L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	AAATATCTCCTCCCCATTCTGG	0.465													11	222	---	---	---	---					
ACTA1	58	broad.mit.edu	37	1	229568617	229568617	+	Frame_Shift_Del	DEL	A	A	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr1:229568617delA	ENST00000366684.3	-	3	242	c.140delT	c.(139-141)gcfs	p.V47fs	ACTA1_ENST00000366683.2_Frame_Shift_Del_p.V47fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	47					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	ACCCATACCGACCATGACGCC	0.632													7	54	---	---	---	---					
TTC27	55622	broad.mit.edu	37	2	33036200	33036200	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:33036200delC	ENST00000317907.4	+	17	2339	c.2108delC	c.(2107-2109)tafs	p.S703fs		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	703							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AGAGTGACTTCAAGAGTGACA	0.453													11	243	---	---	---	---					
KCMF1	56888	broad.mit.edu	37	2	85280407	85280408	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:85280407_85280408insG	ENST00000409785.3	+	7	1380_1381	c.1021_1022insG	c.(1021-1023)gggfs	p.G341fs		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	341						intracellular	ligase activity|zinc ion binding			ovary(3)	3						TGAGGATGATCGGGGGGAGATG	0.450													8	124	---	---	---	---					
AFF3	3899	broad.mit.edu	37	2	100210038	100210038	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:100210038delG	ENST00000317233.4	-	14	2320	c.2085delC	c.(2083-2085)acfs	p.T695fs	AFF3_ENST00000356421.2_Frame_Shift_Del_p.T720fs|AFF3_ENST00000409579.1_Frame_Shift_Del_p.T720fs|AFF3_ENST00000409236.1_Frame_Shift_Del_p.T695fs	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	695					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGGCAGCCACGGTCTGTGCTT	0.612													12	96	---	---	---	---					
CREG2	200407	broad.mit.edu	37	2	102000066	102000066	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:102000066delG	ENST00000324768.4	-	2	677	c.540delC	c.(538-540)ccfs	p.P180fs	CREG2_ENST00000495455.1_5'UTR	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	180						extracellular region	FMN binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CAGCCACCACGGGGTCCTTGG	0.552													14	110	---	---	---	---					
EPHA4	2043	broad.mit.edu	37	2	222294682	222294688	+	Frame_Shift_Del	DEL	AGCTCTC	AGCTCTC	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr2:222294682_222294688delAGCTCTC	ENST00000281821.2	-	15	2721_2727	c.2680_2686delGAGAGCT	c.(2680-2688)ccfs	p.ESS894fs	EPHA4_ENST00000409938.1_Frame_Shift_Del_p.ESS894fs|EPHA4_ENST00000392071.4_Frame_Shift_Del_p.ESS843fs|EPHA4_ENST00000409854.1_Frame_Shift_Del_p.ESS894fs	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	894						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCTGACCTGGAGCTCTCCGTCCCTGTC	0.488													7	611	---	---	---	---					
KLHDC8B	200942	broad.mit.edu	37	3	49212336	49212336	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:49212336delC	ENST00000332780.2	+	4	912	c.703delC	c.(703-705)ccfs	p.P235fs	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	235						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAGCCTGGGCCCCACAACTT	0.617													7	125	---	---	---	---					
ATP13A4	84239	broad.mit.edu	37	3	193182776	193182776	+	Frame_Shift_Del	DEL	G	G	-	rs146360602		TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr3:193182776delG	ENST00000342695.4	-	12	1736	c.1414delC	c.(1414-1416)agfs	p.Q472fs	ATP13A4_ENST00000295548.3_Frame_Shift_Del_p.Q472fs|ATP13A4_ENST00000392443.3_Frame_Shift_Del_p.Q453fs	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	472					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTGATCCTCTGGGGGCTAATG	0.463													25	378	---	---	---	---					
PCDH18	54510	broad.mit.edu	37	4	138453028	138453028	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:138453028delC	ENST00000344876.4	-	1	601	c.215delG	c.(214-216)gafs	p.G72fs	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Frame_Shift_Del_p.G72fs|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	72	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AGGAGAATTTCCCCTCTGCAT	0.433													16	343	---	---	---	---					
SNX25	83891	broad.mit.edu	37	4	186274647	186274648	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr4:186274647_186274648delAG	ENST00000504273.1	+	15	2277_2278	c.1983_1984delAG	c.(1981-1986)acagfs	p.TE661fs	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Frame_Shift_Del_p.TE661fs			Q9H3E2	SNX25_HUMAN	sorting nexin 25	661					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AGGAGGAGACAGAGGAGGACAG	0.426													7	167	---	---	---	---					
RPS14	6208	broad.mit.edu	37	5	149823870	149823871	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr5:149823870_149823871insC	ENST00000401695.3	-	5	480_481	c.434_435insG	c.(433-435)gcgfs	p.A145fs	RPS14_ENST00000312037.5_Frame_Shift_Ins_p.A145fs|RPS14_ENST00000407193.1_Frame_Shift_Ins_p.A145fs			P62263	RS14_HUMAN	ribosomal protein S14	145					endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACCACGGCGACCCCCCTTCCT	0.525													7	362	---	---	---	---					
ZNF184	7738	broad.mit.edu	37	6	27420810	27420810	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:27420810delT	ENST00000211936.6	-	6	812	c.528delA	c.(526-528)aafs	p.K176fs	ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTACAGGGCCTTTTTCCCAAC	0.408													7	694	---	---	---	---					
FOXP4	116113	broad.mit.edu	37	6	41558052	41558053	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:41558052_41558053insC	ENST00000373060.1	+	12	1859_1860	c.1401_1402insC	c.(1399-1404)cgccccfs	p.RP467fs	FOXP4_ENST00000307972.4_Frame_Shift_Ins_p.RP467fs|FOXP4_ENST00000373063.3_Frame_Shift_Ins_p.RP454fs|FOXP4_ENST00000373057.3_Frame_Shift_Ins_p.RP465fs|FOXP4_ENST00000409208.1_Frame_Shift_Ins_p.RP455fs	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	467					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCGACGTCCGGCCCCCCTTCAC	0.629													7	306	---	---	---	---					
LAMA2	3908	broad.mit.edu	37	6	129468135	129468136	+	Frame_Shift_Ins	INS	-	-	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:129468135_129468136insA	ENST00000421865.2	+	6	900_901	c.851_852insA	c.(850-852)gggfs	p.G284fs		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	284	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTTCAGTTGGAGGGATGTGCA	0.426													7	548	---	---	---	---					
HIVEP2	3097	broad.mit.edu	37	6	143094352	143094352	+	Frame_Shift_Del	DEL	A	A	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr6:143094352delA	ENST00000367603.2	-	5	2266	c.1524delT	c.(1522-1524)atfs	p.I508fs	HIVEP2_ENST00000367604.1_Frame_Shift_Del_p.I508fs|HIVEP2_ENST00000012134.2_Frame_Shift_Del_p.I508fs	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TAGATGATGGAATAATCTGGG	0.463													11	140	---	---	---	---					
SDK1	221935	broad.mit.edu	37	7	4152974	4152974	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:4152974delC	ENST00000404826.2	+	24	3627	c.3488delC	c.(3487-3489)tcfs	p.S1163fs	SDK1_ENST00000389531.3_Frame_Shift_Del_p.S1163fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1163	Fibronectin type-III 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGTCCGTCTTCCCGGGTCATC	0.577													14	254	---	---	---	---					
DGKB	1607	broad.mit.edu	37	7	14647102	14647103	+	Frame_Shift_Ins	INS	-	-	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:14647102_14647103insA	ENST00000403951.2	-	17	1811_1812	c.1392_1393insT	c.(1390-1395)aactcgfs	p.S465fs	DGKB_ENST00000258767.5_Frame_Shift_Ins_p.S465fs|DGKB_ENST00000444700.2_Frame_Shift_Ins_p.S446fs|DGKB_ENST00000407950.1_Frame_Shift_Ins_p.S457fs|DGKB_ENST00000406247.3_Frame_Shift_Ins_p.S465fs|DGKB_ENST00000402815.1_Frame_Shift_Ins_p.S464fs|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Frame_Shift_Ins_p.S465fs			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	465	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ACCTGACGAGGATTTAATAGAT	0.277													25	173	---	---	---	---					
PPP1R9A	55607	broad.mit.edu	37	7	94539687	94539688	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:94539687_94539688insG	ENST00000289495.5	+	1	478_479	c.262_263insG	c.(262-264)gggfs	p.G88fs	PPP1R9A_ENST00000433881.1_Frame_Shift_Ins_p.G88fs|PPP1R9A_ENST00000433360.1_Frame_Shift_Ins_p.G88fs|PPP1R9A_ENST00000424654.1_Frame_Shift_Ins_p.G88fs|PPP1R9A_ENST00000340694.4_Frame_Shift_Ins_p.G88fs|PPP1R9A_ENST00000456331.2_Frame_Shift_Ins_p.G88fs	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	88	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TGCCAAAACAAGGGGGAAAGGT	0.426										HNSCC(28;0.073)			7	59	---	---	---	---					
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-357)aggfs	p.R119fs		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564													7	58	---	---	---	---					
ZNF704	619279	broad.mit.edu	37	8	81733697	81733697	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr8:81733697delC	ENST00000327835.3	-	2	364	c.133delG	c.(133-135)acfs	p.D45fs		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	45						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TTTTCATGGTCAAGGATCCGG	0.433													21	1282	---	---	---	---					
LOC101928381	101928381	broad.mit.edu	37	9	70117457	70117458	+	RNA	INS	-	-	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr9:70117457_70117458insG	ENST00000588215.1	-	0	82																											aagaaagaaaaaGAGAGAGAGA	0.465													5	6	---	---	---	---					
NLRP14	338323	broad.mit.edu	37	11	7060058	7060058	+	Frame_Shift_Del	DEL	A	A	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:7060058delA	ENST00000299481.4	+	2	587	c.241delA	c.(241-243)agfs	p.K81fs		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	81	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AATCTTTGGCAAGATGAACCT	0.483													13	105	---	---	---	---					
STX5	6811	broad.mit.edu	37	11	62598584	62598585	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:62598584_62598585insG	ENST00000294179.3	-	2	284_285	c.131_132insC	c.(130-132)cgtfs	p.R44fs	STX5_ENST00000377897.4_Frame_Shift_Ins_p.R44fs|STX5_ENST00000541317.1_Intron|STX5_ENST00000394690.1_Splice_Site	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	44					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity	p.V45fs*38(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						CGAGGGTCACTGGGGGGGGCAG	0.629													2	4	---	---	---	---					
CORO1B	57175	broad.mit.edu	37	11	67209168	67209168	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr11:67209168delG	ENST00000545016.1	-	4	575	c.490delC	c.(490-492)acfs	p.H164fs	CORO1B_ENST00000453768.2_Intron|CORO1B_ENST00000393893.1_Intron|CORO1B_ENST00000341356.5_Intron			Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	0					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGGGGTCCGTGGGGGGGGGGA	0.657													2	4	---	---	---	---					
ANO2	57101	broad.mit.edu	37	12	5672676	5672676	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr12:5672676delT	ENST00000356134.5	-	27	2860	c.2789delA	c.(2788-2790)gcfs	p.D930fs	ANO2_ENST00000546188.1_Frame_Shift_Del_p.D930fs|ANO2_ENST00000327087.8_Frame_Shift_Del_p.D929fs	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	934						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						GTCGCTGATGTCCGTGGGGAT	0.527													28	343	---	---	---	---					
TPTE2P2	644623	broad.mit.edu	37	13	52796688	52796688	+	RNA	DEL	C	C	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr13:52796688delC	ENST00000451298.1	-	0	1229				RP11-64P12.8_ENST00000606031.1_RNA																							cgctattgctccccacccatc	0.537													4	8	---	---	---	---					
FBXL3	26224	broad.mit.edu	37	13	77581683	77581683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr13:77581683delA	ENST00000355619.5	-	5	1208	c.884delT	c.(883-885)tafs	p.L295fs	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	295					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.L295fs*3(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTCTTCATATAAAAAAAAATA	0.418													7	108	---	---	---	---					
RP11-51O6.1	0	broad.mit.edu	37	16	61089679	61089679	+	RNA	DEL	C	C	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:61089679delC	ENST00000591758.1	-	0	189																											CAGCTGCTTGCCAGCAAAGAT	0.453													10	95	---	---	---	---					
WDR59	79726	broad.mit.edu	37	16	74943495	74943496	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr16:74943495_74943496insG	ENST00000262144.6	-	16	1675_1676	c.1545_1546insC	c.(1543-1548)cctaccfs	p.T516fs		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	516										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AACGTCGGTAAGGGGGGAGTGA	0.554													7	416	---	---	---	---					
MYH3	4621	broad.mit.edu	37	17	10543699	10543699	+	Frame_Shift_Del	DEL	A	A	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr17:10543699delA	ENST00000583535.1	-	21	2464	c.2377delT	c.(2377-2379)gcfs	p.C793fs	MYH3_ENST00000226209.7_Frame_Shift_Del_p.C793fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	793	IQ.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AACCCTCTGCACACAGCTTGT	0.557													15	107	---	---	---	---					
C19orf26	255057	broad.mit.edu	37	19	1231033	1231034	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:1231033_1231034insG	ENST00000590083.1	-	9	1512_1513	c.1220_1221insC	c.(1219-1221)cagfs	p.Q407fs	C19orf26_ENST00000215376.6_Frame_Shift_Ins_p.Q401fs|C19orf26_ENST00000382477.2_Intron			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	437						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		TGGGCCGCCTAGGGGGGGGCGA	0.708										HNSCC(14;0.022)			6	11	---	---	---	---					
ZNF728	388523	broad.mit.edu	37	19	23159186	23159186	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:23159186delC	ENST00000594710.1	-	4	1098	c.953delG	c.(952-954)gcfs	p.G318fs		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		GAAAGCTTTGCCACATTCTTC	0.423													7	119	---	---	---	---					
MED25	81857	broad.mit.edu	37	19	50333382	50333383	+	Frame_Shift_Ins	INS	-	-	C	rs147677997	by1000genomes	TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr19:50333382_50333383insC	ENST00000312865.6	+	7	779_780	c.726_727insC	c.(724-729)aaagccfs	p.KA242fs	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	242	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		TCCAGTCAAAGCAGCCAGTCCC	0.653													7	118	---	---	---	---					
ISM1	140862	broad.mit.edu	37	20	13260474	13260475	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:13260474_13260475insC	ENST00000262487.3	+	3	578_579	c.572_573insC	c.(571-573)accfs	p.T191fs	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	191						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						AACTTCCTCAACCCCCCCAGGG	0.554													8	148	---	---	---	---					
C20orf26	26074	broad.mit.edu	37	20	20180463	20180463	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chr20:20180463delC	ENST00000245957.5	+	17	1925	c.1849delC	c.(1849-1851)ccfs	p.P617fs	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	617										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TTACTTGGTTCCCGTGCGACC	0.532													19	389	---	---	---	---					
OR13H1	347468	broad.mit.edu	37	X	130678698	130678699	+	Frame_Shift_Ins	INS	-	-	A			TCGA-17-Z055-01A-01W-0747-08	TCGA-17-Z055-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de78326d-3afc-4f29-af7f-1750da544826	548b12ac-2ba9-40e1-9299-8bfed3d5765b	g.chrX:130678698_130678699insA	ENST00000338616.3	+	1	749_750	c.651_652insA	c.(649-654)tatacgfs	p.YT217fs		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TCCTCTCCTACATACGAATTGC	0.470													46	530	---	---	---	---					
