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
GJA5	2702	broad.mit.edu	37	1	147230396	147230396	+	Silent	SNP	A	A	G			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr1:147230396A>G	uc021ovl.1	-	0	951	c.951T>C	c.(949-951)taT>taC	p.Y317Y	GJA5_uc001eps.1_Silent_p.Y317Y|GJA5_uc001ept.1_Silent_p.Y317Y	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	317					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.R316C(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GCTTCTGGCCATAACGAACCT	0.542												
KPRP	448834	broad.mit.edu	37	1	152732251	152732251	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr1:152732251G>A	uc001fal.1	+	1	245	c.187G>A	c.(187-189)Gct>Act	p.A63T	KPRP_uc021ozf.1_Missense_Mutation_p.A63T	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	63	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCAGACCAGGCTCCATGCCA	0.552												
METTL13	51603	broad.mit.edu	37	1	171765699	171765699	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr1:171765699C>A	uc001ghz.3	+	7	2250	c.1903C>A	c.(1903-1905)Ccc>Acc	p.P635T	METTL13_uc001gia.3_Missense_Mutation_p.P549T|METTL13_uc001gib.3_Missense_Mutation_p.P479T|METTL13_uc010pml.2_Missense_Mutation_p.P634T|METTL13_uc001gic.1_Non-coding_Transcript	NM_015935	NP_055770	Q8N6R0	MTL13_HUMAN	Homo sapiens methyltransferase like 13 (METTL13), transcript variant 1, mRNA.	635							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GGCAGTGTTCCCCCTCCTATA	0.498												
TPR	7175	broad.mit.edu	37	1	186289465	186289465	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr1:186289465C>T	uc001grv.3	-	45	6844	c.6547G>A	c.(6547-6549)Ggc>Agc	p.G2183S	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	2183					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCAAGCTGGCCAAGATCAGAG	0.418			T	NTRK1	papillary thyroid							
PTEN	5728	broad.mit.edu	37	10	89624299	89624299	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr10:89624299T>G	uc001kfb.3	+	0	1105	c.73T>G	c.(73-75)Ttg>Gtg	p.L25V	PTEN_uc021pvw.1_Non-coding_Transcript|KLLN_uc009xti.3_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	25	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.D24Y(5)|p.D24G(4)|p.D24E(2)|p.D24N(2)|p.L25F(2)|p.D24_L25del(2)|p.D24fs*19(2)|p.D24fs*20(2)|p.L25fs*28(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CGACTTAGACTTGACCTGTAT	0.463		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
TSPAN32	10077	broad.mit.edu	37	11	2334954	2334954	+	Missense_Mutation	SNP	G	G	A	rs138129469		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:2334954G>A	uc001lvy.1	+	4	562	c.425G>A	c.(424-426)cGg>cAg	p.R142Q	TSPAN32_uc001lvx.1_Intron|TSPAN32_uc009ydk.1_Missense_Mutation_p.R152Q|TSPAN32_uc010qxk.2_Missense_Mutation_p.R177Q|TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Missense_Mutation_p.R112Q|TSPAN32_uc001lwb.1_Missense_Mutation_p.R112Q|TSPAN32_uc001lwc.1_Missense_Mutation_p.R87Q|TSPAN32_uc001lwd.1_5'Flank	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	Homo sapiens tetraspanin 32 (TSPAN32), mRNA.	142					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TCCCACGTCCGGCGGCAGGAG	0.647												
OR52R1	119695	broad.mit.edu	37	11	4825512	4825512	+	Silent	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:4825512C>T	uc021qcs.1	-	0	99	c.99G>A	c.(97-99)ccG>ccA	p.P33P		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCACAGAACGGAAAGGCAA	0.512												
OR5D14	219436	broad.mit.edu	37	11	55563722	55563722	+	Missense_Mutation	SNP	C	C	T	rs143761060		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:55563722C>T	uc010rim.2	+	0	691	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ACTAAAAATCCGTTCTGTTAG	0.473												
MS4A6E	245802	broad.mit.edu	37	11	60102450	60102450	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:60102450G>A	uc001npd.3	+	0	96	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	28						integral to membrane	receptor activity	p.E28*(2)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						AGAGAAACCCGAACCCACCAA	0.443												
MS4A14	84689	broad.mit.edu	37	11	60183031	60183031	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:60183031C>T	uc001npj.3	+	4	1155	c.590C>T	c.(589-591)gCa>gTa	p.A197V	MS4A14_uc001npi.3_Missense_Mutation_p.A85V|MS4A14_uc001npn.3_5'UTR|MS4A14_uc001npk.3_Missense_Mutation_p.A180V|MS4A14_uc001npl.3_5'UTR|MS4A14_uc001npm.3_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	197						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						ACAACAAATGCACAATCTGTT	0.378												
MS4A12	54860	broad.mit.edu	37	11	60271232	60271232	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:60271232T>C	uc001npr.3	+	4	587	c.530T>C	c.(529-531)aTt>aCt	p.I177T	MS4A12_uc021qkb.1_Missense_Mutation_p.I131T	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.	177						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						ATTGGAGTGATTCTGCTGCTG	0.458												
PPFIA1	8500	broad.mit.edu	37	11	70181755	70181755	+	Silent	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:70181755G>A	uc001opo.3	+	10	1598	c.1383G>A	c.(1381-1383)agG>agA	p.R461R	PPFIA1_uc001opn.2_Silent_p.R461R|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	461					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTAATGAGAGGCTTCAACTTC	0.403												
CADM1	23705	broad.mit.edu	37	11	115111056	115111056	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:115111056T>A	uc001ppi.4	-	1	338	c.209A>T	c.(208-210)gAc>gTc	p.D70V	CADM1_uc001ppf.4_Missense_Mutation_p.D70V|CADM1_uc001ppk.4_Missense_Mutation_p.D70V|CADM1_uc001ppj.4_Missense_Mutation_p.D70V|CADM1_uc001ppl.3_Missense_Mutation_p.D70V	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	70	Ig-like V-type.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CACAGAGTCGTCACTCTTATT	0.443												
CHEK1	1111	broad.mit.edu	37	11	125503132	125503132	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:125503132A>T	uc009zbo.3	+	5	1396	c.499A>T	c.(499-501)Atg>Ttg	p.M167L	CHEK1_uc010sbi.2_Missense_Mutation_p.M167L|CHEK1_uc010sbh.2_Missense_Mutation_p.M183L|CHEK1_uc001qcf.4_Missense_Mutation_p.M167L|CHEK1_uc009zbp.3_Missense_Mutation_p.M167L|CHEK1_uc001qcg.4_Missense_Mutation_p.M167L	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.	167	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.K166N(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GTTGAACAAGATGTGTGGTAC	0.378								Other conserved DNA damage response genes				
PLCZ1	89869	broad.mit.edu	37	12	18836249	18836249	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr12:18836249C>T	uc021qvx.1	-	14	1942	c.1751G>A	c.(1750-1752)cGt>cAt	p.R584H	PLCZ1_uc001rdv.4_Missense_Mutation_p.R480H|PLCZ1_uc001rdw.4_Missense_Mutation_p.R325H|PLCZ1_uc001rdu.1_Missense_Mutation_p.R366H|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	584					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R584C(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CAGAGGAATACGACGATAACC	0.378												
OR6C75	390323	broad.mit.edu	37	12	55758922	55758922	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr12:55758922delT	uc010spk.2	+	0	28	c.28delT	c.(28-30)tttfs	p.F10fs		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						AGTAACAGACTTTATTCTTCT	0.353												
EP400	57634	broad.mit.edu	37	12	132491424	132491424	+	Splice_Site	SNP	T	T	C			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr12:132491424T>C	uc001ujn.3	+	15	3456	c.3304_splice	c.e15+2	p.G1102_splice	EP400_uc021rgq.1_Splice_Site_p.G1101_splice|EP400_uc001ujm.3_Splice_Site_p.G1102_splice	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1138	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTAACGAAGGTAAGAGTTTGC	0.413												
EFHA1	221154	broad.mit.edu	37	13	22067477	22067477	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr13:22067477T>G	uc001uof.3	-	11	1284	c.1216A>C	c.(1216-1218)Agt>Cgt	p.S406R	EFHA1_uc010tct.2_Missense_Mutation_p.S196R	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	Homo sapiens EF-hand domain family, member A1 (EFHA1), mRNA.	406							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|skin(2)	13		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		TCTTGTATACTCTGATGTTGT	0.318												
MCF2L	23263	broad.mit.edu	37	13	113729315	113729315	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr13:113729315G>T	uc001vsu.3	+	10	1291	c.1291G>T	c.(1291-1293)Gcc>Tcc	p.A431S	MCF2L_uc001vsq.3_Missense_Mutation_p.A431S|MCF2L_uc010tjr.2_Missense_Mutation_p.A374S|MCF2L_uc001vsr.3_Missense_Mutation_p.A378S|MCF2L_uc001vss.4_Missense_Mutation_p.A372S|MCF2L_uc010tjs.2_Missense_Mutation_p.A372S|MCF2L_uc001vst.1_Missense_Mutation_p.A336S	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	404					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|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCCACAGGTGGCCGTGGAGAG	0.647												
KCNK10	54207	broad.mit.edu	37	14	88651963	88651963	+	Silent	SNP	G	G	A	rs75132782	byFrequency	TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr14:88651963G>A	uc001xwm.3	-	6	1670	c.1548C>T	c.(1546-1548)caC>caT	p.H516H	KCNK10_uc001xwn.3_Silent_p.H516H|KCNK10_uc001xwo.3_Silent_p.H511H	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	511					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCAACTCAGCGTGCTGCTGGA	0.498												
FMN1	342184	broad.mit.edu	37	15	33359812	33359812	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr15:33359812C>T	uc001zhf.4	-	0	274	c.274G>A	c.(274-276)Gga>Aga	p.G92R	FMN1_uc001zhg.2_Missense_Mutation_p.G92R	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	0	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCATCATTTCCGAGGTCAGGT	0.493												
TGM5	9333	broad.mit.edu	37	15	43544994	43544994	+	Silent	SNP	G	G	A	rs138771869		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr15:43544994G>A	uc001zrd.2	-	5	833	c.825C>T	c.(823-825)taC>taT	p.Y275Y	TGM5_uc001zre.2_Silent_p.Y193Y	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	275					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R274C(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AGCATTGCCCGTAGCGCACGG	0.587												
LDHAL6B	92483	broad.mit.edu	37	15	59499582	59499582	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr15:59499582G>T	uc002agb.3	+	0	541	c.443G>T	c.(442-444)cGc>cTc	p.R148L	MYO1E_uc002aga.3_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	Homo sapiens lactate dehydrogenase A-like 6B (LDHAL6B), mRNA.	148					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GCAGGTGCACGCCAAGAAAAG	0.438												
ZNF710	374655	broad.mit.edu	37	15	90610585	90610585	+	Silent	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr15:90610585C>T	uc002bov.2	+	1	339	c.216C>T	c.(214-216)aaC>aaT	p.N72N		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	Homo sapiens zinc finger protein 710 (ZNF710), mRNA.	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TGGCCTGCAACGGGAGGGCCT	0.711												
C16orf59	80178	broad.mit.edu	37	16	2511144	2511144	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr16:2511144C>G	uc002cqh.3	+	3	555	c.524C>G	c.(523-525)cCt>cGt	p.P175R	C16orf59_uc002cqg.2_Missense_Mutation_p.P8R|C16orf59_uc002cqi.3_Missense_Mutation_p.P8R|C16orf59_uc010uwb.2_Missense_Mutation_p.P8R	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	175										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				ACCCCCAGGCCTGGGGCGGGC	0.687												
GRIN2A	2903	broad.mit.edu	37	16	9858638	9858638	+	Silent	SNP	A	A	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr16:9858638A>T	uc010uym.2	-	13	3073	c.2763T>A	c.(2761-2763)gcT>gcA	p.A921A	GRIN2A_uc002czo.4_Silent_p.A921A|GRIN2A_uc010uyn.2_Silent_p.A764A|GRIN2A_uc002czr.4_Silent_p.A921A	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	921					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R920K(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGAAGTCAGCAGCTCTTTTGG	0.468												
LRRC48	83450	broad.mit.edu	37	17	17910458	17910458	+	Silent	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr17:17910458C>T	uc021trj.1	+	12	1702	c.1323C>T	c.(1321-1323)cgC>cgT	p.R441R	LRRC48_uc010vxe.2_Silent_p.R441R|LRRC48_uc021tri.1_Silent_p.R441R|LRRC48_uc021trk.1_Silent_p.R441R	NM_001130090	NP_112584	Q9H069	LRC48_HUMAN	Homo sapiens leucine rich repeat containing 48 (LRRC48), transcript variant 1, mRNA.	441						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					ACGACCTGCGCGCGGTAGGCG	0.617												
CD79B	974	broad.mit.edu	37	17	62007651	62007651	+	Silent	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr17:62007651G>A	uc002jdp.1	-	2	299	c.216C>T	c.(214-216)tcC>tcT	p.S72S	CD79B_uc002jdq.1_Silent_p.S71S|CD79B_uc002jdr.1_Intron	NM_001039933	NP_001035022	P40259	CD79B_HUMAN	Homo sapiens CD79b molecule, immunoglobulin-associated beta (CD79B), transcript variant 3, mRNA.	71	Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity	p.S71S(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCACATTGCCGGAGGCGCTGT	0.567			"""Mis, O"""		DLBCL							
CDH19	28513	broad.mit.edu	37	18	64211976	64211978	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr18:64211976_64211978delCTT	uc002lkc.1	-	5	1076_1078	c.938_940delAAG	c.(937-942)gaagga>gga	p.E313del	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_In_Frame_Del_p.E313del|CDH19_uc002lkd.3_In_Frame_Del_p.E313del	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	313	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E313K(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATAACTATTCCTTCTTGAGTTTC	0.300												
THEG	51298	broad.mit.edu	37	19	362356	362356	+	Silent	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr19:362356C>T	uc002lol.3	-	7	1027	c.984G>A	c.(982-984)aaG>aaA	p.K328K	THEG_uc002lom.3_Silent_p.K304K	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	328					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCACCTTCTTGGTGACAT	0.617												
COL5A3	50509	broad.mit.edu	37	19	10104318	10104318	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr19:10104318G>T	uc002mmq.1	-	17	1758	c.1672C>A	c.(1672-1674)Ctg>Atg	p.L558M		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	558	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCACCAGGCAGCCCAGGGAGG	0.587												
RYR1	6261	broad.mit.edu	37	19	39001381	39001381	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr19:39001381G>A	uc002oit.3	+	59	9212	c.9082G>A	c.(9082-9084)Ggt>Agt	p.G3028S	RYR1_uc002oiu.3_Missense_Mutation_p.G3028S|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3028					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTGGGCAGCGGTGGCCACGC	0.572												
PRX	57716	broad.mit.edu	37	19	40902416	40902416	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr19:40902416C>T	uc002onr.3	-	6	2112	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	PRX_uc002onq.3_Missense_Mutation_p.D476N|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	615	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGTGCACATCGGGCACGGCC	0.552												
KCNJ3	3760	broad.mit.edu	37	2	155711520	155711520	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr2:155711520T>A	uc002tyv.1	+	2	1396	c.1201T>A	c.(1201-1203)Tct>Act	p.S401T	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	401					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AAAACTACCATCTAAGCTGCA	0.398												
LRP2	4036	broad.mit.edu	37	2	170003375	170003375	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr2:170003375C>A	uc002ues.3	-	68	12898	c.12685G>T	c.(12685-12687)Ggt>Tgt	p.G4229C		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4229					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)	GTTGGCCAACCAAGGTCCTCG	0.448												
TTC30A	92104	broad.mit.edu	37	2	178482747	178482747	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr2:178482747C>T	uc002ulo.3	-	0	948	c.683G>A	c.(682-684)gGc>gAc	p.G228D		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA.	228					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGTGGTCATGCCCACACCTAG	0.527												
MATN4	8785	broad.mit.edu	37	20	43926658	43926658	+	Silent	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr20:43926658G>A	uc002xnn.2	-	7	1666	c.1479C>T	c.(1477-1479)cgC>cgT	p.R493R	MATN4_uc002xnp.2_Silent_p.R411R|MATN4_uc002xno.2_Silent_p.R452R|MATN4_uc010zwr.1_Silent_p.R441R|MATN4_uc002xnr.1_Silent_p.R493R	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	534	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGGCGATCTCGCGCAGCTCCG	0.672												
NCOA5	57727	broad.mit.edu	37	20	44693706	44693706	+	Missense_Mutation	SNP	C	C	T	rs150367556		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr20:44693706C>T	uc002xrd.3	-	4	1319	c.791G>A	c.(790-792)cGc>cAc	p.R264H	NCOA5_uc002xrc.3_Missense_Mutation_p.R152H|NCOA5_uc002xre.3_Missense_Mutation_p.R264H	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	p.H263L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGTGCAGGAGCGGTGAATCTG	0.473												
COL6A1	1291	broad.mit.edu	37	21	47410308	47410308	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr21:47410308G>A	uc002zhu.1	+	12	1076	c.974G>A	c.(973-975)cGt>cAt	p.R325H		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	325	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AAGGGCAAGCGTGGCATCGAC	0.657												
TCF20	6942	broad.mit.edu	37	22	42609517	42609517	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr22:42609517C>A	uc003bcj.1	-	0	1929	c.1795G>T	c.(1795-1797)Gtt>Ttt	p.V599F	TCF20_uc003bck.1_Missense_Mutation_p.V599F	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTCTCATTAACCTTTGGGTTC	0.542												
PLCL2	23228	broad.mit.edu	37	3	17053527	17053527	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:17053527A>G	uc011awc.2	+	2	2761	c.2665A>G	c.(2665-2667)Aga>Gga	p.R889G	PLCL2_uc011awd.2_Missense_Mutation_p.R771G	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	897					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCTTTCTGTGAGAAAAGGGAA	0.463												
TRAK1	22906	broad.mit.edu	37	3	42167078	42167078	+	Silent	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:42167078G>A	uc003cky.3	+	1	474	c.258G>A	c.(256-258)gaG>gaA	p.E86E	TRAK1_uc011azh.2_Silent_p.E86E|TRAK1_uc011azi.2_Silent_p.E86E	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	86	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TCACAACCGAGCAAATTGAAG	0.443												
OR5H1	26341	broad.mit.edu	37	3	97852415	97852415	+	Silent	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:97852415C>T	uc011bgt.2	+	0	874	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CATCTACAGTCTGAGAAATAA	0.348												
OR5K1	26339	broad.mit.edu	37	3	98189045	98189045	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:98189045T>A	uc003dsm.3	+	0	625	c.625T>A	c.(625-627)Ttt>Att	p.F209I		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTTCAAGTCTTTACCATAGG	0.353												
EHHADH	1962	broad.mit.edu	37	3	184910535	184910535	+	Nonsense_Mutation	SNP	G	G	A	rs138388673	byFrequency	TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:184910535G>A	uc003fpf.3	-	6	1727	c.1651C>T	c.(1651-1653)Cga>Tga	p.R551*	EHHADH_uc011brs.2_Nonsense_Mutation_p.R455*	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	551	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CCCCTTTTTCGGGCAGGAGTT	0.473												
MUC4	4585	broad.mit.edu	37	3	195515435	195515435	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:195515435C>T	uc021xjp.1	-	1	3172	c.3016G>A	c.(3016-3018)Gcc>Acc	p.A1006T	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1008	Repeat.|Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.A1006T(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.582												
RGS12	6002	broad.mit.edu	37	4	3319669	3319669	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr4:3319669C>T	uc003ggw.3	+	1	2676	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	RGS12_uc003ggu.2_Missense_Mutation_p.A591V|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.A591V|RGS12_uc003ggx.1_Missense_Mutation_p.A591V	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	591						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCAGCTTCGCGCAGCCCCCG	0.577												
AFM	173	broad.mit.edu	37	4	74367504	74367504	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr4:74367504G>C	uc003hhb.3	+	13	1678	c.1647_splice	c.e13-1	p.R549_splice		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	549	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGGCCACAGGTTTCTTGTCA	0.388												
RXFP1	59350	broad.mit.edu	37	4	159554592	159554592	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr4:159554592C>T	uc003ipz.3	+	11	1198	c.935C>T	c.(934-936)cCg>cTg	p.P312L	RXFP1_uc010iqj.2_Missense_Mutation_p.P141L|RXFP1_uc010iqk.3_Missense_Mutation_p.P180L|RXFP1_uc011cja.2_Missense_Mutation_p.P207L|RXFP1_uc010iqo.3_Intron|RXFP1_uc011cjb.2_Intron|RXFP1_uc011cjc.2_Missense_Mutation_p.P231L|RXFP1_uc011cjd.2_Missense_Mutation_p.P231L|RXFP1_uc010iql.3_Missense_Mutation_p.P156L|RXFP1_uc011cje.2_Missense_Mutation_p.P339L|RXFP1_uc010iqm.3_Missense_Mutation_p.P279L|RXFP1_uc011cjf.2_Missense_Mutation_p.P182L|RXFP1_uc010iqn.3_Missense_Mutation_p.P258L	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	312						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AATCTTCCACCGCTTATATTC	0.289												
SPOCK3	50859	broad.mit.edu	37	4	167663205	167663205	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr4:167663205G>T	uc011cjq.1	-	7	1030	c.973C>A	c.(973-975)Cct>Act	p.P325T	SPOCK3_uc021xuf.1_Missense_Mutation_p.P316T|SPOCK3_uc011cjr.1_Missense_Mutation_p.P196T|SPOCK3_uc003iri.1_Missense_Mutation_p.P316T|SPOCK3_uc011cjs.1_Missense_Mutation_p.P265T|SPOCK3_uc003irj.1_Missense_Mutation_p.P313T|SPOCK3_uc011cjt.1_Missense_Mutation_p.P224T|SPOCK3_uc011cjp.2_Missense_Mutation_p.P273T|SPOCK3_uc011cju.1_Missense_Mutation_p.P220T|SPOCK3_uc011cjv.1_Missense_Mutation_p.P218T	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	316	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.R324L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GTCTGGCAAGGTGGGTCTGCA	0.373												
NMUR2	56923	broad.mit.edu	37	5	151775094	151775094	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr5:151775094C>T	uc003luv.2	-	2	1029	c.863G>A	c.(862-864)cGa>cAa	p.R288Q		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	288					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.R288R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAAGAAGAGTCGGTCAATGTG	0.483												
DDAH2	23564	broad.mit.edu	37	6	31696723	31696723	+	Silent	SNP	T	T	C			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr6:31696723T>C	uc003nwp.3	-	0	847	c.216A>G	c.(214-216)ggA>ggG	p.G72G	DDAH2_uc003nwq.3_Silent_p.G72G	NM_013974	NP_039268	O95865	DDAH2_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 2 (DDAH2), mRNA.	72					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	CAAGCAGCGGTCCCAGCGGCA	0.662												
LPA	4018	broad.mit.edu	37	6	161007524	161007524	+	Silent	SNP	G	G	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr6:161007524G>T	uc003qtl.3	-	25	4206	c.4086C>A	c.(4084-4086)ccC>ccA	p.P1362P		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3870	Kringle 12.				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)	GGACCACCGTGGGAGTTGTGA	0.498												
CCR6	1235	broad.mit.edu	37	6	167549965	167549965	+	Missense_Mutation	SNP	G	G	A	rs76452893	by1000genomes	TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr6:167549965G>A	uc003qvl.3	+	12	2723	c.247G>A	c.(247-249)Gtc>Atc	p.V83I	CCR6_uc010kkm.3_Missense_Mutation_p.V83I|CCR6_uc003qvn.4_Missense_Mutation_p.V83I|CCR6_uc003qvm.4_Missense_Mutation_p.V83I	NM_031409	NP_113597	P51684	CCR6_HUMAN	Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA.	83					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TATGACAGACGTCTATCTCTT	0.488												
USP42	84132	broad.mit.edu	37	7	6189342	6189342	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:6189342G>T	uc011jwo.1	+	12	1638	c.1515G>T	c.(1513-1515)tgG>tgT	p.W505C	USP42_uc010kth.1_Missense_Mutation_p.W438C|USP42_uc011jwp.2_Missense_Mutation_p.W505C|USP42_uc011jwq.2_Missense_Mutation_p.W312C|USP42_uc011jwr.1_Missense_Mutation_p.W350C	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.	505					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TCCAAAACTGGTCAGTTAATA	0.443												
SKAP2	8935	broad.mit.edu	37	7	26779515	26779515	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:26779515G>A	uc003syc.3	-	4	669	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	SKAP2_uc011jzi.2_5'UTR|SKAP2_uc011jzj.2_Missense_Mutation_p.R111C	NM_003930	NP_003921	O75563	SKAP2_HUMAN	Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.	126	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	p.R126C(2)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						CCTTTTCTGCGTTTTTCAAGG	0.373												
EGFR	1956	broad.mit.edu	37	7	55233110	55233110	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:55233110C>G	uc003tqk.3	+	14	2106	c.1860C>G	c.(1858-1860)tgC>tgG	p.C620W	EGFR_uc003tqi.3_Missense_Mutation_p.C620W|EGFR_uc003tqj.3_Missense_Mutation_p.C620W|EGFR_uc022adm.1_Missense_Mutation_p.C620W|EGFR_uc010kzg.2_Missense_Mutation_p.C575W|EGFR_uc022adn.1_Missense_Mutation_p.C575W|EGFR_uc011kco.2_Missense_Mutation_p.C567W|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	620					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.C620W(2)|p.C620Y(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCCACCTGTGCCATCCAAACT	0.542		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
CCDC132	55610	broad.mit.edu	37	7	92932809	92932809	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:92932809G>C	uc003umo.3	+	16	1527	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	CCDC132_uc003ump.3_Missense_Mutation_p.E437Q|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.E187Q	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	467										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTAGAGAATGAGACTTGGGA	0.343												
TRRAP	8295	broad.mit.edu	37	7	98547126	98547126	+	Silent	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:98547126G>A	uc003upp.3	+	34	5063	c.4854G>A	c.(4852-4854)ggG>ggA	p.G1618G	TRRAP_uc011kis.2_Silent_p.G1600G|TRRAP_uc003upr.3_Silent_p.G1317G	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1618					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTGCCGGGGGGTGCCCAGA	0.617												
CUL1	8454	broad.mit.edu	37	7	148495685	148495685	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:148495685delC	uc010lpg.3	+	19	2578	c.2052delC	c.(2050-2052)atcfs	p.I684fs	CUL1_uc003wey.3_Frame_Shift_Del_p.I684fs|CUL1_uc003wez.3_Frame_Shift_Del_p.I574fs|CUL1_uc003wfa.3_Frame_Shift_Del_p.I345fs	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	684					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGGTTAACATCAATGTGCCAA	0.373												
SOX7	83595	broad.mit.edu	37	8	10583718	10583718	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:10583718G>A	uc011kwz.2	-	5	886	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C	SOX7_uc003wtf.3_Missense_Mutation_p.R233C	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	233	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.S285F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TGGGGGATGCGGCGGGGATGG	0.692												
DOK2	9046	broad.mit.edu	37	8	21767417	21767417	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:21767417C>T	uc003wzx.1	-	4	737	c.644G>A	c.(643-645)cGt>cAt	p.R215H	DOK2_uc003wzy.1_Missense_Mutation_p.R215H|DOK2_uc003wzz.1_Missense_Mutation_p.R61H|DOK2_uc010lth.1_Missense_Mutation_p.R61H	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	215	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	p.G214F(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GACGCAGCGACGGCCTGCCTC	0.522												
KCNU1	157855	broad.mit.edu	37	8	36642023	36642023	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:36642023T>C	uc010lvw.3	+	0	182	c.95T>C	c.(94-96)tTt>tCt	p.F32S	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	32						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)		CTCTCTTCCTTTGTGACCTTC	0.413												
ZFAND1	79752	broad.mit.edu	37	8	82626245	82626245	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:82626245G>A	uc003ycj.2	-	5	411	c.388C>T	c.(388-390)Cga>Tga	p.R130*	ZFAND1_uc010lzx.2_Nonsense_Mutation_p.R130*|ZFAND1_uc022awt.1_Non-coding_Transcript|ZFAND1_uc022awu.1_Nonsense_Mutation_p.R23*|ZFAND1_uc003yck.2_Nonsense_Mutation_p.R23*|ZFAND1_uc022awv.1_Nonsense_Mutation_p.R130*|ZFAND1_uc022aww.1_Nonsense_Mutation_p.R23*	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN	Homo sapiens zinc finger, AN1-type domain 1 (ZFAND1), transcript variant 1, mRNA.	130							zinc ion binding	p.R130*(6)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCTTTCCATCGTTTACTTGCT	0.343												
ANKRD46	157567	broad.mit.edu	37	8	101541822	101541823	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:101541822_101541823delTG	uc003yjo.1	-	3	548_549	c.239_240delCA	c.(238-240)acafs	p.T80fs	ANKRD46_uc003yjm.3_Frame_Shift_Del_p.T80fs|ANKRD46_uc003yjn.1_Frame_Shift_Del_p.T80fs|ANKRD46_uc003yjp.1_Frame_Shift_Del_p.T80fs	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	Homo sapiens ankyrin repeat domain 46 (ANKRD46), mRNA.	80						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			GGTGAAGAGCTGTGTTTCCTTG	0.436												
GRIN3A	116443	broad.mit.edu	37	9	104335628	104335628	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr9:104335628C>T	uc004bbp.2	-	8	3777	c.3176G>A	c.(3175-3177)cGg>cAg	p.R1059Q	GRIN3A_uc004bbo.2_Missense_Mutation_p.R134Q	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	1059					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.R1059Q(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ATTGGTGGTCCGCAAGGCAGG	0.527												
DBC1	1620	broad.mit.edu	37	9	122000991	122000991	+	Silent	SNP	A	A	G			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr9:122000991A>G	uc004bkc.2	-	4	1083	c.627T>C	c.(625-627)aaT>aaC	p.N209N	DBC1_uc004bkd.2_Silent_p.N209N	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	209	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CAGAGTCCAGATTGTCATAGC	0.507												
OCRL	4952	broad.mit.edu	37	X	128696660	128696660	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chrX:128696660G>A	uc004euq.3	+	11	1306	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	OCRL_uc004eur.3_Missense_Mutation_p.E381K	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	381					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TGCACACGTGGAGGACTTTGA	0.438												
MAMLD1	10046	broad.mit.edu	37	X	149639327	149639327	+	Silent	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chrX:149639327G>A	uc011mxu.2	+	2	1717	c.1407G>A	c.(1405-1407)caG>caA	p.Q469Q	MAMLD1_uc011mxt.1_Silent_p.Q456Q|MAMLD1_uc004fee.2_Silent_p.Q494Q|MAMLD1_uc011mxv.2_Silent_p.Q469Q|MAMLD1_uc011mxw.2_Silent_p.Q421Q	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	494					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GCcagcaacagcagcagcagc	0.532												
