Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MST1P2	11209	broad.mit.edu	37	1	16976743	16976743	+	RNA	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:16976743C>T	uc010och.2	+	13		c.2464C>T			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCAGCCTTGACGCCATATGCT	0.468000														83			14		0	0	0.014323	0	0
AFM	173	broad.mit.edu	37	4	74352687	74352687	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:74352687T>G	uc003hhb.3	+	4	517	c.486T>G	c.(484-486)ttT>ttG	p.F162L		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	162	Albumin 1.				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)			TTTATAGCTTTTTATATGAAG	0.428000														36			25		0	0	0.005443	0	0
ABCC8	6833	broad.mit.edu	37	11	17482077	17482077	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:17482077G>A	uc001mnc.3	-	5	1095	c.969C>T	c.(967-969)atC>atT	p.I323I	ABCC8_uc010rcy.1_Silent_p.I322I	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	323	ABC transmembrane type-1 1.				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)	GGTGGTCCACGATCCCAAAGA	0.602000														200			138		0	0	0.014410	0	0
RP1L1	94137	broad.mit.edu	37	8	10469091	10469091	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:10469091C>T	uc003wtc.3	-	3	2746	c.2517G>A	c.(2515-2517)cgG>cgA	p.R839R		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	839					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)		GGGAGGGTCCCCGCTGGGCCT	0.716000														11			11		0	0	0.010729	0	0
PHLDB2	90102	broad.mit.edu	37	3	111658470	111658470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:111658470C>T	uc010hqa.3	+	6	2690	c.2279C>T	c.(2278-2280)tCt>tTt	p.S760F	PHLDB2_uc003dyc.3_Missense_Mutation_p.S744F|PHLDB2_uc003dyd.3_Missense_Mutation_p.S717F|PHLDB2_uc003dyg.3_Missense_Mutation_p.S760F|PHLDB2_uc003dyh.3_Missense_Mutation_p.S717F|PHLDB2_uc003dyi.3_Missense_Mutation_p.S346F	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	760						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AACATCGTTTCTAGAAAGGTA	0.378000														20			10		0	0	0.008291	0	0
ATRNL1	26033	broad.mit.edu	37	10	116887370	116887370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:116887370C>T	uc001lcg.3	+	3	891	c.505C>T	c.(505-507)Cct>Tct	p.P169S	ATRNL1_uc001lce.3_Non-coding_Transcript|ATRNL1_uc001lcf.3_Missense_Mutation_p.P169S	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	169	CUB.					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)		TTTGATAGTCCCTGAAATAAG	0.328000														13			12		0	0	0.013537	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54905807	54905807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:54905807G>A	uc001sgc.4	+	8	938	c.859G>A	c.(859-861)Ggc>Agc	p.G287S	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.G237S	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	287					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GTGTCTGCAGGGCTCCCTCTA	0.532000														38			32		0	0	0.003755	0	0
COL4A2	1284	broad.mit.edu	37	13	111109710	111109710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:111109710G>A	uc001vqx.3	+	20	1649	c.1360G>A	c.(1360-1362)Gga>Aga	p.G454R		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	454	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGGGCTGAAAGGAGCAAAAGG	0.627000														14			7		0	0	0.001984	0	0
OR10G7	390265	broad.mit.edu	37	11	123908965	123908965	+	Silent	SNP	A	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:123908965A>C	uc001pzq.1	-	0	744	c.744T>G	c.(742-744)ctT>ctG	p.L248L		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CAAAGAAGCAAAGGACCACGA	0.562000														32			21		0	0	0.014323	0	0
INPP5A	3632	broad.mit.edu	37	10	134563050	134563050	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:134563050G>A	uc001llp.3	+	9	1010	c.762G>A	c.(760-762)acG>acA	p.T254T	INPP5A_uc001llo.1_Silent_p.T254T|INPP5A_uc001llq.3_Intron	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	254					cell communication	membrane	PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CCATGCAGACGGTCCGGGCCG	0.622000														36			18		0	0	0.007413	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951599	30951599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:30951599C>T	uc003aig.1	-	3	753	c.613G>A	c.(613-615)Gac>Aac	p.D205N	GAL3ST1_uc003aih.1_Missense_Mutation_p.D205N|GAL3ST1_uc003aii.1_Missense_Mutation_p.D205N|GAL3ST1_uc010gvz.1_Missense_Mutation_p.D205N	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	205					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CCGTTGGGGTCGTAGTAGCGA	0.627000														59			30		0	0	0.007291	0	0
GIGYF2	26058	broad.mit.edu	37	2	233620943	233620943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:233620943C>T	uc002vtj.4	+	6	545	c.278C>T	c.(277-279)tCc>tTc	p.S93F	GIGYF2_uc010zmj.1_Missense_Mutation_p.S93F|GIGYF2_uc002vtg.2_Missense_Mutation_p.S93F|GIGYF2_uc002vti.4_Missense_Mutation_p.S93F|GIGYF2_uc002vtk.4_Missense_Mutation_p.S93F|GIGYF2_uc002vth.4_Missense_Mutation_p.S93F|GIGYF2_uc010zmk.2_Non-coding_Transcript	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	93					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGAAACTTTTCCATGTCTGTA	0.408000														21			13		0	0	0.013537	0	0
PLXNA2	5362	broad.mit.edu	37	1	208234042	208234042	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:208234042G>A	uc001hgz.3	-	12	3485	c.2727C>T	c.(2725-2727)atC>atT	p.I909I		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	909	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCTCAGCGATGATGTATTCCC	0.617000														30			14		0	0	0.003163	0	0
ASIC2	40	broad.mit.edu	37	17	32483160	32483160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:32483160G>A	uc002hhu.3	-	0	666	c.392C>T	c.(391-393)cCc>cTc	p.P131L		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA.	131					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CAGCACGGAGGGGTCAGCCAG	0.617000														69			54		0	0	0.014410	0	0
TECTA	7007	broad.mit.edu	37	11	121059869	121059869	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:121059869G>A	uc010rzo.2	+	20	6243	c.6243G>A	c.(6241-6243)agG>agA	p.R2081R		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	2081					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GACCTATTAGGAGAAAAAGTA	0.428000														18			12		0	0	0.010729	0	0
TSPAN12	23554	broad.mit.edu	37	7	120450525	120450525	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:120450525G>A	uc003vjk.3	-	5	834	c.460C>T	c.(460-462)Cag>Tag	p.Q154*	TSPAN12_uc010lkj.3_Nonsense_Mutation_p.Q27*	NM_012338	NP_036470	O95859	TSN12_HUMAN	Homo sapiens tetraspanin 12 (TSPAN12), mRNA.	154					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					ACCTCTCTCTGAAAAAAATTC	0.398000														23			25		0	0	0.007291	0	0
ROPN1L	83853	broad.mit.edu	37	5	10442315	10442315	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:10442315G>A	uc021xwo.1	+	1	219	c.36G>A	c.(34-36)caG>caA	p.Q12Q	ROPN1L_uc003jex.4_Silent_p.Q12Q	NM_001201466	NP_001188395	Q96C74	ROP1L_HUMAN	Homo sapiens rhophilin associated tail protein 1-like (ROPN1L), transcript variant 2, mRNA.	12					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						GCGCTCAGCAGATCCACATTC	0.662000														9			38		0	0	0.005524	0	0
STAB2	55576	broad.mit.edu	37	12	104140468	104140468	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:104140468G>A	uc001tjw.3	+	57	6416	c.6230G>A	c.(6229-6231)gGa>gAa	p.G2077E	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2077	EGF-like 15.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAAGGTGACGGAATCACATGC	0.512000														73			80		0	0	0.014410	0	0
RPTN	126638	broad.mit.edu	37	1	152127305	152127305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:152127305C>T	uc001ezs.1	-	2	2335	c.2270G>A	c.(2269-2271)cGa>cAa	p.R757Q		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	757	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTGCCTGTCTCGTCTCTGATG	0.512000														219			173		0	0	0.014410	0	0
CR1	1378	broad.mit.edu	37	1	207700144	207700144	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:207700144G>A	uc001hfy.3	+	5	1073	c.933G>A	c.(931-933)agG>agA	p.R311R	CR1_uc009xcl.1_Intron|CR1_uc001hfx.3_Silent_p.R311R|CR1_uc021pij.1_Silent_p.R311R|CR1_uc009xcj.1_Intron|CR1_uc009xck.1_Silent_p.R311R	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	311	Sushi 5.				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						GTACCCAAAGGGACAAGGACA	0.527000														139			71		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179475012	179475012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:179475012G>A	uc021vsy.1	-	219	43762	c.43537C>T	c.(43537-43539)Cat>Tat	p.H14513Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.H8208Y|TTN_uc021vta.1_Missense_Mutation_p.H8141Y|TTN_uc021vtb.1_Missense_Mutation_p.H8016Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15440							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)			AGGACATAATGAAGAATTGGG	0.428000														95			72		0	0	0.014410	0	0
AADACL3	126767	broad.mit.edu	37	1	12785267	12785267	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:12785267C>T	uc009vnn.1	+	3	590	c.357C>T	c.(355-357)tcC>tcT	p.S119S	AADACL3_uc001aug.1_Silent_p.S49S	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	119							hydrolase activity	p.S119S(1)|p.S49S(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGAAGTCCCTGGATGCAT	0.512000														69			49		0	0	0.014410	0	0
TEX13A	56157	broad.mit.edu	37	X	104464658	104464658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:104464658C>T	uc004ema.3	-	1	536	c.424G>A	c.(424-426)Gag>Aag	p.E142K	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Missense_Mutation_p.E142K	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	142						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TTGTCTCTCTCTTTCTGCACC	0.607000														1			17		0	0	0.010504	0	0
LRRC32	2615	broad.mit.edu	37	11	76371341	76371341	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:76371341G>A	uc001oxq.4	-	2	1539	c.1296C>T	c.(1294-1296)ggC>ggT	p.G432G	LRRC32_uc001oxr.4_Silent_p.G432G|LRRC32_uc010rsf.2_Silent_p.G432G	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	432						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGCCGGAGGGGCCAGGCTCAT	0.657000														8			16		0	0	0.004990	0	0
GOLM1	51280	broad.mit.edu	37	9	88661463	88661463	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:88661463T>A	uc004aol.3	-	4	595	c.389A>T	c.(388-390)aAt>aTt	p.N130I	GOLM1_uc010mqd.1_Non-coding_Transcript|GOLM1_uc004aom.3_Missense_Mutation_p.N130I	NM_016548	NP_808800	Q8NBJ4	GOLM1_HUMAN	Homo sapiens golgi membrane protein 1 (GOLM1), transcript variant 1, mRNA.	130						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CCTGCCGTAATTCCTCTGCAG	0.532000														9			7		0	0	0.008291	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416205	105416206	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:105416205_105416206GG>AA	uc010axc.1	-	6	5702_5703	c.5582_5583CC>TT	c.(5581-5583)tcc>tTT	p.S1861F	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S1761F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1861						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCCTGCATGGAGGGGAGGCT	0.644000														135			92		0	0	0.004672	0	0
KCNQ2	3785	broad.mit.edu	37	20	62070013	62070013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:62070013C>T	uc002yey.1	-	6	1165	c.988G>A	c.(988-990)Gag>Aag	p.E330K	KCNQ2_uc002yez.1_Missense_Mutation_p.E330K|KCNQ2_uc002yfa.1_Missense_Mutation_p.E330K|KCNQ2_uc002yfb.1_Missense_Mutation_p.E330K|KCNQ2_uc011aax.1_Missense_Mutation_p.E330K|KCNQ2_uc002yfc.1_Missense_Mutation_p.E330K	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	330					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CGCCTCTTCTCAAAGTGCTTC	0.622000														44			20		0	0	0.010504	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303095	151303095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:151303095G>A	uc022cgz.1	-	0	998	c.998C>T	c.(997-999)gCt>gTt	p.A333V	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.A333V|MAGEA10_uc004ffm.2_Missense_Mutation_p.A333V|MAGEA10_uc004ffl.3_Missense_Mutation_p.A333V	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	333	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATCTTTCAAAGCCTCCTCATA	0.488000														13			61		0	0	0.014410	0	0
TRPC5	7224	broad.mit.edu	37	X	111195505	111195505	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:111195505C>T	uc004epl.1	-	1	1063	c.144G>A	c.(142-144)gtG>gtA	p.V48V	TRPC5_uc004epm.1_Silent_p.V48V	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	48					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGGCCTGCTTCACAGTGGCAT	0.547000														7			33		0	0	0.003271	0	0
PDHX	8050	broad.mit.edu	37	11	35016516	35016516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:35016516C>T	uc001mvt.3	+	10	1829	c.1303C>T	c.(1303-1305)Cct>Tct	p.P435S	PDHX_uc010rep.2_Missense_Mutation_p.P420S|PDHX_uc010req.2_Missense_Mutation_p.P208S	NM_003477	NP_003468	O00330	ODPX_HUMAN	Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	435					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			GATTAACCCTCCTCAGGCCTG	0.498000														78			58		0	0	0.014410	0	0
ABCC12	94160	broad.mit.edu	37	16	48167670	48167670	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:48167670G>A	uc002efc.1	-	6	1402	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.I352I|ABCC12_uc010vgj.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	352	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGGTGGACACGATGGGGGCCA	0.502000														25			25		0	0	0.005443	0	0
BTG1	694	broad.mit.edu	37	12	92539259	92539259	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:92539259G>A	uc001tby.3	-	0	415	c.53C>T	c.(52-54)gCc>gTc	p.A18V	BTG1_uc001tbv.1_5'Flank|BTG1_uc001tbw.1_5'Flank|BTG1_uc001tbx.1_5'Flank|BTG1_uc009zss.1_5'Flank|BC044741_uc001tca.3_5'Flank	NM_001731	NP_001722	P62324	BTG1_HUMAN	Homo sapiens B-cell translocation gene 1, anti-proliferative (BTG1), mRNA.	18					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				GAAGGACACGGCGGCGGCGAT	0.706000			T	MYC	BCLL									51			41		0	0	0.011902	0	0
SLC4A3	6508	broad.mit.edu	37	2	220500401	220500401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:220500401C>T	uc002vmo.4	+	13	2269	c.2060C>T	c.(2059-2061)tCt>tTt	p.S687F	SLC4A3_uc002vmp.4_Missense_Mutation_p.S660F|SLC4A3_uc010fwm.3_Missense_Mutation_p.S210F|SLC4A3_uc010fwn.1_Missense_Mutation_p.S169F	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	660					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)		CCAGAACTGTCTTTGGAGTTG	0.637000														11			9		0	0	0.004482	0	0
IDH3A	3419	broad.mit.edu	37	15	78453956	78453956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:78453956C>T	uc002bdd.3	+	4	350	c.323C>T	c.(322-324)cCa>cTa	p.P108L	IDH3A_uc010umt.2_Intron|IDH3A_uc010umu.2_5'UTR|IDH3A_uc002bdf.3_5'UTR|IDH3A_uc010umv.2_Missense_Mutation_p.P58L|IDH3A_uc021srf.1_Non-coding_Transcript|IDH3A_uc002bdg.3_Missense_Mutation_p.P21L	NM_005530	NP_005521	P50213	IDH3A_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) alpha (IDH3A), nuclear gene encoding mitochondrial protein, mRNA.	108					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	GCCGGTCACCCATCTATGAAT	0.453000														43			18		0	0	0.007413	0	0
NPEPPS	9520	broad.mit.edu	37	17	45669398	45669398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:45669398G>A	uc002ilr.4	+	10	1560	c.1337G>A	c.(1336-1338)cGa>cAa	p.R446Q	NPEPPS_uc010wkt.2_Missense_Mutation_p.R442Q|NPEPPS_uc010wku.2_Missense_Mutation_p.R410Q|NPEPPS_uc010wkv.2_5'UTR	NM_006310	NP_006301	P55786	PSA_HUMAN	Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA.	446					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TCTGTCATCCGAATGCTGCAT	0.373000														40			6		0	0	0.004482	0	0
ERC2	26059	broad.mit.edu	37	3	56330089	56330089	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:56330089C>T	uc021wzo.1	-	1	1172	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V	ERC2_uc003dhr.1_Silent_p.V344V	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	344						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GATCTAAAATCACTTCCAAGT	0.428000														53			36		0	0	0.013726	0	0
CDH22	64405	broad.mit.edu	37	20	44841652	44841652	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:44841652G>A	uc002xrm.2	-	4	1413	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A	CDH22_uc010ghk.1_Silent_p.A338A|CDH22_uc002xrn.2_Silent_p.A89A	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	338	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E337E(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CTACGATGATGGCCTCCTGAG	0.607000														31			14		0	0	0.004990	0	0
CPXM2	119587	broad.mit.edu	37	10	125514272	125514272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:125514272G>A	uc001lhk.1	-	12	2249	c.1924C>T	c.(1924-1926)Cgt>Tgt	p.R642C	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	642					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TTAATGCCACGATGAACCTGC	0.517000														58			47		0	0	0.013114	0	0
ZNF251	90987	broad.mit.edu	37	8	145947332	145947332	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:145947332A>T	uc003zdv.4	-	4	1969	c.1713T>A	c.(1711-1713)taT>taA	p.Y571*		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		AAGCTTTTCCATATTCATTAC	0.468000														39			33		0	0	0.012213	0	0
LRSAM1	90678	broad.mit.edu	37	9	130236188	130236188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:130236188C>T	uc004brb.2	+	10	1100	c.728C>T	c.(727-729)tCa>tTa	p.S243L	LRSAM1_uc010mxk.2_Missense_Mutation_p.S243L|LRSAM1_uc004brc.2_Missense_Mutation_p.S243L|LRSAM1_uc004brd.2_Missense_Mutation_p.S243L	NM_001005373	NP_612370	Q6UWE0	LRSM1_HUMAN	Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA.	243					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GACAGATTCTCAAGGGAGGAG	0.537000														33			38		0	0	0.014410	0	0
ZNF665	79788	broad.mit.edu	37	19	53667831	53667831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:53667831G>A	uc010eqm.1	-	3	2012	c.1912C>T	c.(1912-1914)Cgt>Tgt	p.R638C		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AGGGTTGAACGAACACTGAAG	0.393000														43			25		0	0	0.004656	0	0
BPTF	2186	broad.mit.edu	37	17	65914854	65914854	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:65914854C>T	uc002jgf.3	+	11	5389	c.5328C>T	c.(5326-5328)tcC>tcT	p.S1776S	BPTF_uc002jge.3_Silent_p.S1902S	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1902	Thr-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGTAAAGTCCTTAGCTGGAG	0.428000														88			55		0	0	0.014410	0	0
FAM189B	10712	broad.mit.edu	37	1	155220423	155220423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:155220423G>A	uc001fjm.3	-	8	1760	c.1154C>T	c.(1153-1155)cCc>cTc	p.P385L	FAM189B_uc009wql.3_Missense_Mutation_p.P187L|FAM189B_uc001fjn.3_Missense_Mutation_p.P289L|FAM189B_uc001fjo.3_Missense_Mutation_p.P367L|FAM189B_uc001fjp.3_Intron	NM_006589	NP_006580	P81408	F189B_HUMAN	Homo sapiens family with sequence similarity 189, member B (FAM189B), transcript variant 1, mRNA.	385						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TTCCTCGAAGGGGCCCCGCAG	0.701000														21			13		0	0	0.004990	0	0
PAPOLG	64895	broad.mit.edu	37	2	61021139	61021139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:61021139C>T	uc002sai.3	+	18	2051	c.1802C>T	c.(1801-1803)cCc>cTc	p.P601L	PAPOLG_uc002saj.3_Missense_Mutation_p.P290L|PAPOLG_uc002sak.3_Missense_Mutation_p.P136L|PAPOLG_uc010fch.3_Missense_Mutation_p.P290L	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA.	601					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			GTATCACCCCCCACTGTGTGT	0.393000														48			32		0	0	0.013726	0	0
C10orf54	64115	broad.mit.edu	37	10	73511434	73511434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:73511434G>A	uc001jsd.3	-	5	1030	c.889C>T	c.(889-891)Cca>Tca	p.P297S	CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_Missense_Mutation_p.P165S	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA.	297						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CCCAGGGATGGGAAGAAGACG	0.627000														30			23		0	0	0.004656	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				19			144		7.99487e-62	8.63653e-62	0.014410	1	0
IGFN1	91156	broad.mit.edu	37	1	201190759	201190759	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:201190759G>A	uc001gwc.3	+	18	10216	c.10086G>A	c.(10084-10086)acG>acA	p.T3362T	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCACCTACACGGCCAAGGGGC	0.617000														33			39		0	0	0.006230	0	0
AQP12B	653437	broad.mit.edu	37	2	241622081	241622081	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:241622081G>A	uc010fzj.3	-	0	237	c.174C>T	c.(172-174)gtC>gtT	p.V58V	AQP12B_uc002vzt.3_Intron	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN	Homo sapiens aquaporin 12B (AQP12B), mRNA.	46						integral to membrane	transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GCCCGAGCTCGACCAGCGTCC	0.701000														19			17		0	0	0.004007	0	0
MAFB	9935	broad.mit.edu	37	20	39316829	39316830	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:39316829_39316830AC>TT	uc002xji.3	-	0	1047_1048	c.661_662GT>AA	c.(661-663)gtg>AAg	p.V221K		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) (MAFB), mRNA.	221					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				CAGCTCGCGCACGGACATGGAC	0.723000			T	IGH@	MM									11			4		0	0	0.004672	0	0
SLIT1	6585	broad.mit.edu	37	10	98923177	98923177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:98923177C>T	uc001kmw.2	-	2	553	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	SLIT1_uc009xvh.1_Missense_Mutation_p.E101K|ARHGAP19_uc001kmy.3_Non-coding_Transcript	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	101					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCACCACGTTCCACTGCTCCA	0.597000														182			158		0	0	0.014410	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137212	40137212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:40137212C>T	uc021qgf.1	-	0	631	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	LRRC4C_uc001mxc.1_Missense_Mutation_p.E207K|LRRC4C_uc001mxd.1_Missense_Mutation_p.E207K|LRRC4C_uc001mxa.1_Missense_Mutation_p.E211K|LRRC4C_uc001mxb.1_Missense_Mutation_p.E207K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	211					regulation of axonogenesis	integral to membrane	protein binding	p.E211*(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTAGGGATTTCCCGAAGGTTG	0.453000														42			31		0	0	0.010818	0	0
DDX53	168400	broad.mit.edu	37	X	23018312	23018312	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:23018312C>T	uc004daj.3	+	0	235	c.138C>T	c.(136-138)tcC>tcT	p.S46S		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	46						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CAGCAGGCTCCCGTGAACCAC	0.507000														4			21		0	0	0.012319	0	0
UBE3A	7337	broad.mit.edu	37	15	25616380	25616380	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:25616380G>A	uc001zaq.3	-	6	1710	c.950C>T	c.(949-951)cCc>cTc	p.P317L	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Missense_Mutation_p.P294L|UBE3A_uc001zas.3_Missense_Mutation_p.P314L|UBE3A_uc001zat.3_Missense_Mutation_p.P294L	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	317					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GGCTGCAAGGGGTAGCTTGCT	0.393000														27			30		0	0	0.008361	0	0
ZBTB39	9880	broad.mit.edu	37	12	57397508	57397508	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:57397508G>A	uc001sml.2	-	1	1347	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	ZBTB39_uc021qzg.1_Silent_p.F398F	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AGGAGAAAAGGAAAATACCAA	0.512000														35			29		0	0	0.007291	0	0
NEURL3	93082	broad.mit.edu	37	2	97165184	97165184	+	RNA	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:97165184G>A	uc010fhx.3	-	3		c.767C>T			NEURL3_uc002swc.3_Non-coding_Transcript					Homo sapiens neuralized homolog 3 (Drosophila) pseudogene (NEURL3), non-coding RNA.																		CTGGCTGTGGGATCTGAGGCA	0.632000														40			31		0	0	0.010818	0	0
CSMD3	114788	broad.mit.edu	37	8	113246620	113246620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:113246620C>T	uc003ynu.3	-	67	10873	c.10714G>A	c.(10714-10716)Gaa>Aaa	p.E3572K	CSMD3_uc003yns.3_Missense_Mutation_p.E2774K|CSMD3_uc003ynt.3_Missense_Mutation_p.E3532K|CSMD3_uc011lhx.2_Missense_Mutation_p.E3403K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3572						integral to membrane|plasma membrane		p.E3572*(2)|p.E3532*(1)		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						CAATTTTCTTCCTTCATTTTC	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				61			33		0	0	0.004878	0	0
NEB	4703	broad.mit.edu	37	2	152482132	152482132	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:152482132C>T	uc021vrb.1	-	65	9668	c.9639G>A	c.(9637-9639)tgG>tgA	p.W3213*	NEB_uc002txu.3_Nonsense_Mutation_p.W3456*|NEB_uc021vrc.1_Nonsense_Mutation_p.W3456*|NEB_uc010fnx.3_Nonsense_Mutation_p.W3201*|NEB_uc021vrd.1_Nonsense_Mutation_p.W3213*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3213					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTCTTTGTCCCAGGCTTCTG	0.338000														15			9		0	0	0.004482	0	0
LCE2B	26239	broad.mit.edu	37	1	152659456	152659456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:152659456C>T	uc001fai.3	+	1	191	c.137C>T	c.(136-138)tCt>tTt	p.S46F	LCE2B_uc021ozd.1_Missense_Mutation_p.S46F	NM_014357	NP_055172	O14633	LCE2B_HUMAN	Homo sapiens late cornified envelope 2B (LCE2B), mRNA.	46	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)			GCAGTCTCTTCTTGCTGTGGT	0.627000														101			70		0	0	0.014410	0	0
SPOCK3	50859	broad.mit.edu	37	4	167983660	167983660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:167983660C>T	uc011cjq.1	-	1	311	c.254G>A	c.(253-255)gGa>gAa	p.G85E	SPOCK3_uc021xuf.1_Missense_Mutation_p.G76E|SPOCK3_uc011cjr.1_5'UTR|SPOCK3_uc003iri.1_Missense_Mutation_p.G76E|SPOCK3_uc011cjs.1_Missense_Mutation_p.G25E|SPOCK3_uc003irj.1_Missense_Mutation_p.G73E|SPOCK3_uc011cjt.1_Intron|SPOCK3_uc011cjp.2_Missense_Mutation_p.G73E|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.4_Missense_Mutation_p.G73E|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	76					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			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)		GAAGGGTTTTCCTGGACTCCA	0.308000														30			28		0	0	0.013726	0	0
PCDH15	65217	broad.mit.edu	37	10	55955622	55955622	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:55955622G>A	uc010qhy.1	-	11	1536	c.1141C>T	c.(1141-1143)Cct>Tct	p.P381S	PCDH15_uc010qhq.2_Missense_Mutation_p.P381S|PCDH15_uc010qhr.2_Missense_Mutation_p.P376S|PCDH15_uc021pqv.1_Missense_Mutation_p.P376S|PCDH15_uc021pqw.1_Missense_Mutation_p.P381S|PCDH15_uc010qht.2_Missense_Mutation_p.P376S|PCDH15_uc021pqx.1_Missense_Mutation_p.P376S|PCDH15_uc001jjv.1_Missense_Mutation_p.P354S|PCDH15_uc021pqy.1_Missense_Mutation_p.P376S|PCDH15_uc021pqz.1_Missense_Mutation_p.P354S|PCDH15_uc010qhv.1_Missense_Mutation_p.P376S|PCDH15_uc010qhw.1_Missense_Mutation_p.P339S|PCDH15_uc010qhx.1_Missense_Mutation_p.P376S|PCDH15_uc010qhz.1_Missense_Mutation_p.P376S|PCDH15_uc010qia.1_Missense_Mutation_p.P354S|PCDH15_uc001jju.1_Missense_Mutation_p.P376S|PCDH15_uc010qib.1_Missense_Mutation_p.P354S|PCDH15_uc001jjw.3_Missense_Mutation_p.P376S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	376	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCAAAGGCAGGAAGAGGATGA	0.368000										HNSCC(58;0.16)				38			21		0	0	0.014323	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138738767	138738767	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:138738767G>A	uc003vun.3	-	10	2650	c.2262C>T	c.(2260-2262)ttC>ttT	p.F754F		NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	754	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTTCAATCTTGAAATTTTTCA	0.338000														19			15		0	0	0.002450	0	0
MYF6	4618	broad.mit.edu	37	12	81101504	81101504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:81101504G>A	uc001szf.2	+	0	97	c.6G>A	c.(4-6)atG>atA	p.M2I		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	2					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						AGAACATGATGATGGACCTTT	0.463000														41			36		0	0	0.005524	0	0
SLC6A4	6532	broad.mit.edu	37	17	28537620	28537620	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:28537620G>A	uc002hey.4	-	10	1906	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	SLC6A4_uc010csg.3_Non-coding_Transcript	NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	454					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AGACGTGTGGGAACTCATCCA	0.592000														53			46		0	0	0.014410	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12883419	12883419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:12883419G>A	uc002gnr.4	+	18	2135	c.1808G>A	c.(1807-1809)gGa>gAa	p.G603E	ARHGAP44_uc010vvk.2_Missense_Mutation_p.G603E|ARHGAP44_uc010vvl.2_Missense_Mutation_p.G597E|ARHGAP44_uc002gns.4_Missense_Mutation_p.G397E|ARHGAP44_uc010vvm.2_Missense_Mutation_p.G597E|ARHGAP44_uc010vvn.2_Intron	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	603					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GCACAGAAAGGAAGTCCAGGC	0.592000														23			7		0	0	0.001984	0	0
SRL	6345	broad.mit.edu	37	16	4242767	4242768	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:4242767_4242768CC>TT	uc002cvz.4	-	5	821_822	c.808_809GG>AA	c.(808-810)ggg>AAg	p.G270K	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	729	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	p.G270R(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GAAGAGGGCCCCGTAAACCCGC	0.554000														46			42		0	0	0.004672	0	0
UNC5C	8633	broad.mit.edu	37	4	96199441	96199441	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:96199441C>T	uc003hto.3	-	3	916	c.563G>A	c.(562-564)tGt>tAt	p.C188Y	UNC5C_uc010ilc.2_Missense_Mutation_p.C188Y|UNC5C_uc003htq.3_Missense_Mutation_p.C188Y	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	188	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGGTGGTCGACACTGGAGTAA	0.438000														36			24		0	0	0.006320	0	0
DCHS1	8642	broad.mit.edu	37	11	6662256	6662256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:6662256G>A	uc001mem.1	-	1	990	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	197	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGGACCGGGGCGTGTCTCC	0.597000														34			31		0	0	0.003271	0	0
SERPINA6	866	broad.mit.edu	37	14	94780716	94780716	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:94780716G>A	uc001ycv.3	-	1	374	c.270C>T	c.(268-270)ctC>ctT	p.L90L	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	90					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CCAGGCCCTGGAGAAGCTGGG	0.547000														17			12		0	0	0.001855	0	0
PKN3	29941	broad.mit.edu	37	9	131475654	131475654	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:131475654C>T	uc004bvw.3	+	7	1473	c.1080C>T	c.(1078-1080)atC>atT	p.I360I	PKN3_uc010myh.3_Silent_p.I360I|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	360					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CCTTTGTCATCCCACTGGAGC	0.652000														73			42		0	0	0.008740	0	0
RNF217	154214	broad.mit.edu	37	6	125404058	125404058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:125404058G>A	uc003pzr.3	+	5	1433	c.899G>A	c.(898-900)cGa>cAa	p.R300Q	RNF217_uc003pzs.3_3'UTR|RNF217_uc003pzt.3_Non-coding_Transcript			Q8TC41	RN217_HUMAN	Homo sapiens ring finger protein 217 (RNF217), mRNA.	110					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CAGAGAAAACGATCACGGACA	0.393000														12			13		0	0	0.002450	0	0
EPOR	2057	broad.mit.edu	37	19	11489371	11489371	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:11489371A>G	uc002mrj.2	-	6	1046	c.911T>C	c.(910-912)tTc>tCc	p.F304S	EPOR_uc010xly.2_Missense_Mutation_p.F131S|EPOR_uc002mrk.2_Missense_Mutation_p.F131S|EPOR_uc010xlx.2_Non-coding_Transcript	NM_000121	NP_000112	P19235	EPOR_HUMAN	Homo sapiens erythropoietin receptor (EPOR), transcript variant 1, mRNA.	304						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	ACCTACCTGGAAGTTACCCTT	0.562000														49			45		0	0	0.013114	0	0
COL5A3	50509	broad.mit.edu	37	19	10089817	10089817	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:10089817C>T	uc002mmq.1	-	38	2951	c.2865G>A	c.(2863-2865)gaG>gaA	p.E955E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	955	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)			CCTTGGCCCCCTCTCTGCCTT	0.582000														25			24		0	0	0.003954	0	0
NBEA	26960	broad.mit.edu	37	13	36006489	36006489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:36006489C>T	uc021rid.1	+	38	6797	c.6263C>T	c.(6262-6264)tCc>tTc	p.S2088F	NBEA_uc021ric.1_Missense_Mutation_p.S2085F|NBEA_uc010abi.3_Missense_Mutation_p.S744F	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2088						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCATTTGGCTCCACTCATGCT	0.428000														11			7		0	0	0.003080	0	0
LMTK3	114783	broad.mit.edu	37	19	49001418	49001418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:49001418C>T	uc002pjk.3	-	11	2995	c.2995G>A	c.(2995-2997)Gag>Aag	p.E999K		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCTTTCTCCTCCCTCCTTGGG	0.642000														67			64		0	0	0.014410	0	0
SESN3	143686	broad.mit.edu	37	11	94924756	94924756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:94924756C>T	uc001pfk.1	-	2	376	c.154G>A	c.(154-156)Gca>Aca	p.A52T	SESN3_uc010rug.1_5'UTR|SESN3_uc001pfl.3_Missense_Mutation_p.A52T	NM_144665	NP_653266	P58005	SESN3_HUMAN	Homo sapiens sestrin 3 (SESN3), mRNA.	52					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ACTGTGTTTGCTTGGACAACC	0.363000														17			23		0	0	0.002780	0	0
PIGR	5284	broad.mit.edu	37	1	207107923	207107923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:207107923G>A	uc001hez.3	-	5	1731	c.1547C>T	c.(1546-1548)gCc>gTc	p.A516V	PIGR_uc009xbz.3_Missense_Mutation_p.A516V	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	516	Ig-like V-type 5.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTTCACGAAGGCCTTGCTGGG	0.582000														66			34		0	0	0.006999	0	0
AUTS2	26053	broad.mit.edu	37	7	70252365	70252365	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:70252365G>A	uc003tvw.4	+	17	3214	c.2479G>A	c.(2479-2481)Gat>Aat	p.D827N	AUTS2_uc003tvx.4_Missense_Mutation_p.D803N|AUTS2_uc011keg.2_Missense_Mutation_p.D279N	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	827										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TCATGACAGAGATAGAGATGT	0.582000														10			24		0	0	0.004656	0	0
OR10A2	341276	broad.mit.edu	37	11	6891566	6891566	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:6891566T>G	uc001meu.1	+	0	581	c.581T>G	c.(580-582)gTc>gGc	p.V194G		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		ATTCTGGTGGTCATGATCCCC	0.498000														70			72		0	0	0.014410	0	0
FAM3B	54097	broad.mit.edu	37	21	42716438	42716438	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr21:42716438G>T	uc002yzb.1	+	3	469	c.323G>T	c.(322-324)gGa>gTa	p.G108V	FAM3B_uc002yza.2_Non-coding_Transcript|FAM3B_uc002yzc.1_Missense_Mutation_p.G60V|FAM3B_uc011aeq.2_Missense_Mutation_p.G122V	NM_058186	NP_478066	P58499	FAM3B_HUMAN	Homo sapiens family with sequence similarity 3, member B (FAM3B), transcript variant 1, mRNA.	108					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GTTGCCAGAGGAATAAACATT	0.433000														10			7		8.12818e-05	8.49831e-05	0.001984	1	0
PRSS48	345062	broad.mit.edu	37	4	152204347	152204347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:152204347C>T	uc011cif.2	+	3	560	c.560C>T	c.(559-561)cCc>cTc	p.P187L	PRSS48_uc011cig.2_Missense_Mutation_p.P44L	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	Homo sapiens protease, serine, 48 (PRSS48), mRNA.	187	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CTCTACAATCCCATCGGTATC	0.468000														97			64		0	0	0.014410	0	0
PLXNA4	91584	broad.mit.edu	37	7	131872265	131872265	+	Silent	SNP	C	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:131872265C>A	uc003vra.4	-	14	3187	c.2958G>T	c.(2956-2958)gtG>gtT	p.V986V		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	986	IPT/TIG 2.					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						CAAACATCACCACCACGTTGC	0.562000														166			158		4.3967e-48	4.74519e-48	0.014410	1	0
LRBA	987	broad.mit.edu	37	4	151792567	151792567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:151792567G>A	uc010ipj.3	-	18	2541	c.2297C>T	c.(2296-2298)tCa>tTa	p.S766L	LRBA_uc003ilu.4_Missense_Mutation_p.S766L	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	766						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGCTAGCAATGAAAACAATCC	0.368000														38			26		0	0	0.008361	0	0
NF1	4763	broad.mit.edu	37	17	29483086	29483087	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:29483086_29483087AC>TT	uc002hgg.3	+	1	529_530	c.146_147AC>TT	c.(145-147)tac>tTT	p.Y49F	NF1_uc002hge.2_Missense_Mutation_p.Y49F|NF1_uc002hgf.2_Missense_Mutation_p.Y49F|NF1_uc002hgh.3_Missense_Mutation_p.Y49F|NF1_uc010csn.2_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	49					MAPKKK cascade|Ras protein signal transduction|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|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|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|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	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	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)		ATTTCCAAATACAAGTTTTCTT	0.337000			"""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)				38			17		0	0	0.004672	0	0
NCAM1	4684	broad.mit.edu	37	11	113078697	113078697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:113078697G>A	uc021qqp.1	+	6	1255	c.883G>A	c.(883-885)Gat>Aat	p.D295N	NCAM1_uc001pno.3_Missense_Mutation_p.D179N|NCAM1_uc001pnp.3_Missense_Mutation_p.D295N|NCAM1_uc021qqo.1_Missense_Mutation_p.D295N|NCAM1_uc001pnq.3_Missense_Mutation_p.D295N|NCAM1_uc001pnr.3_Missense_Mutation_p.D295N	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	297	Ig-like C2-type 3.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGGCGAGCAGGATGCGACCAT	0.532000														15			5		0	0	0.000602	0	0
ANO4	121601	broad.mit.edu	37	12	101477456	101477456	+	Splice_Site	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:101477456G>A	uc010svm.1	+	16	1968	c.1396_splice	c.e16-1	p.E466_splice	ANO4_uc001thw.2_Splice_Site_p.E431_splice|ANO4_uc001thx.2_Splice_Site_p.E466_splice|ANO4_uc001thy.2_Intron	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	466	Poly-Glu.					chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGTCCTTTAGGAAGAAATACG	0.378000										HNSCC(74;0.22)				43			26		0	0	0.005443	0	0
COL3A1	1281	broad.mit.edu	37	2	189861125	189861125	+	Splice_Site	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:189861125G>A	uc002uqj.1	+	24	1780	c.1663_splice	c.e24-1	p.G555_splice		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	555	Triple-helical region.				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)	TCTTATTAGGGAAGTCAAGGA	0.423000														28			12		0	0	0.013537	0	0
TSKS	60385	broad.mit.edu	37	19	50247522	50247522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:50247522G>A	uc002ppm.3	-	7	1338	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	443							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TGGTGGGACCGATCCAGGTTC	0.592000														32			27		0	0	0.004656	0	0
ZNF229	7772	broad.mit.edu	37	19	44932600	44932600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:44932600G>A	uc002oze.1	-	5	2790	c.2356C>T	c.(2356-2358)Cat>Tat	p.H786Y	ZNF229_uc010ejk.1_Missense_Mutation_p.H440Y|ZNF229_uc010ejl.1_Missense_Mutation_p.H780Y	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	786					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ACTCTCTGATGAACATGAAGA	0.502000														35			23		0	0	0.014323	0	0
DCC	1630	broad.mit.edu	37	18	51025846	51025846	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:51025846G>A	uc002lfe.2	+	26	4693	c.4077G>A	c.(4075-4077)ccG>ccA	p.P1359P	DCC_uc010dpf.2_Silent_p.P992P	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1359					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAATAGAACCGAAAGTCCCTT	0.448000														57			36		0	0	0.005524	0	0
EP300	2033	broad.mit.edu	37	22	41572330	41572331	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:41572330_41572331CC>TT	uc003azl.4	+	29	5254_5255	c.4859_4860CC>TT	c.(4858-4860)ccc>cTT	p.P1620L		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1620	Binding region for E1A adenovirus.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCTCTCATCCCCTGCGATCTGA	0.550000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					75			39		0	0	0.004672	0	0
NTRK1	4914	broad.mit.edu	37	1	156849090	156849090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:156849090G>A	uc001fqh.1	+	14	2038	c.1982G>A	c.(1981-1983)gGa>gAa	p.G661E	NTRK1_uc001fqf.1_Missense_Mutation_p.G625E|NTRK1_uc009wsi.1_Missense_Mutation_p.G360E|NTRK1_uc001fqi.1_Missense_Mutation_p.G655E|NTRK1_uc009wsk.1_Missense_Mutation_p.G658E	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	661	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GTGGGCCAGGGACTGGTGGTC	0.587000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				38			32		0	0	0.010818	0	0
MASP2	10747	broad.mit.edu	37	1	11106674	11106674	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:11106674G>A	uc001aru.3	-	2	383	c.351C>T	c.(349-351)ttC>ttT	p.F117F	MASP2_uc001arv.3_Silent_p.F117F|MASP2_uc001arw.3_Silent_p.F117F|MASP2_uc001arx.2_Silent_p.F117F	NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	117	CUB 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AGTCGGAGCGGAAGGTAATGT	0.627000														2			25		0	0	0.003330	0	0
KLHL32	114792	broad.mit.edu	37	6	97587033	97587033	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:97587033T>A	uc010kcm.1	+	10	2210	c.1738T>A	c.(1738-1740)Ttc>Atc	p.F580I	KLHL32_uc003poz.2_Missense_Mutation_p.F136I|KLHL32_uc011ead.1_Missense_Mutation_p.F544I|KLHL32_uc011eae.1_Missense_Mutation_p.F511I|KLHL32_uc003ppa.2_Non-coding_Transcript|MIR548H3_uc021zda.1_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA.	580										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AGAAGAAGTATTCTATGGGCC	0.413000														51			52		0	0	0.014410	0	0
GABRG2	2566	broad.mit.edu	37	5	161580138	161580138	+	Nonsense_Mutation	SNP	C	T	T	rs121909674		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:161580138C>T	uc010jjc.3	+	10	1670	c.1312C>T	c.(1312-1314)Caa>Taa	p.Q438*	GABRG2_uc003lyy.4_Nonsense_Mutation_p.Q398*|GABRG2_uc003lyz.4_Nonsense_Mutation_p.Q390*|GABRG2_uc011dej.2_Nonsense_Mutation_p.Q295*	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	390	Interaction with GABARAP (Potential).			IA -> RI (in Ref. 4; no nucleotide entry).	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	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;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AGCAACCATTCAAATGAATAA	0.483000														9			40		0	0	0.006230	0	0
NBEA	26960	broad.mit.edu	37	13	36046664	36046664	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:36046664C>T	uc021rid.1	+	40	7110	c.6576C>T	c.(6574-6576)atC>atT	p.I2192I	NBEA_uc021ric.1_Silent_p.I2189I|NBEA_uc010abi.3_Silent_p.I848I|NBEA_uc010tee.1_5'UTR	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2192						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCAAGAAGATCGACACGAAAG	0.478000														22			20		0	0	0.010504	0	0
NDRG1	10397	broad.mit.edu	37	8	134256628	134256628	+	Silent	SNP	C	T	T	rs150101908	by1000genomes	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:134256628C>T	uc003yuh.2	-	13	1447	c.861G>A	c.(859-861)gcG>gcA	p.A287A	NDRG1_uc003yue.1_Silent_p.A2A|NDRG1_uc003yuf.1_Silent_p.A98A|NDRG1_uc003yug.2_Silent_p.A287A|NDRG1_uc010mee.2_Silent_p.A206A|NDRG1_uc010mef.2_Silent_p.A221A|NDRG1_uc011ljh.1_Silent_p.A115A|NDRG1_uc011lji.1_Silent_p.A34A|NDRG1_uc003yui.1_5'Flank	NM_001135242	NP_006087	Q92597	NDRG1_HUMAN	Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA.	287					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CGCCACAGTCCGCCATCTAGG	0.577000			T	ERG	prostate									20			16		0	0	0.004990	0	0
ZNF714	148206	broad.mit.edu	37	19	21300609	21300609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:21300609C>T	uc002npo.4	+	4	1517	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	ZNF714_uc002npl.3_Missense_Mutation_p.S226F|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	Homo sapiens zinc finger protein 714 (ZNF714), mRNA.	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TTTAACCACTCCTCAAAACTT	0.358000														13			8		0	0	0.006214	0	0
ZNF92	168374	broad.mit.edu	37	7	64864771	64864771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:64864771G>A	uc003ttz.3	+	3	1887	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	ZNF92_uc003tua.3_Missense_Mutation_p.E513K|ZNF92_uc010kzu.3_Missense_Mutation_p.E550K|ZNF92_uc003tub.3_Missense_Mutation_p.E506K|ZNF92_uc022afd.1_Non-coding_Transcript	NM_152626	NP_009070	Q03936	ZNF92_HUMAN	Homo sapiens zinc finger protein 92 (ZNF92), transcript variant 2, mRNA.	582						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)				TTATACTAAAGAGAAACTACA	0.348000														48			22		0	0	0.003330	0	0
STAT4	6775	broad.mit.edu	37	2	192012849	192012849	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:192012849G>A	uc002usm.2	-	1	396	c.81C>T	c.(79-81)ccC>ccT	p.P27P	STAT4_uc010zgm.1_Non-coding_Transcript|STAT4_uc010zgn.1_Non-coding_Transcript|STAT4_uc010zgo.1_Non-coding_Transcript|STAT4_uc002usn.2_Silent_p.P27P|STAT4_uc002uso.2_Silent_p.P27P|STAT4_uc002usp.4_Silent_p.P27P|STAT4_uc010zgl.2_Silent_p.P27P	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	27					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GAATTTCCATGGGAAAGTTGT	0.393000														30			30		0	0	0.007291	0	0
ST14	6768	broad.mit.edu	37	11	130060463	130060463	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:130060463G>A	uc001qfw.3	+	6	942	c.749G>A	c.(748-750)gGg>gAg	p.G250E	ST14_uc010sca.1_Missense_Mutation_p.G60E	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	250	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCCCTGCGGGGGGACGCCGAC	0.697000														18			18		0	0	0.010504	0	0
CIZ1	25792	broad.mit.edu	37	9	130931699	130931699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:130931699C>T	uc011mas.2	-	13	2464	c.2299G>A	c.(2299-2301)Gac>Aac	p.D767N	CIZ1_uc004btr.3_Missense_Mutation_p.D683N|CIZ1_uc004bts.3_Missense_Mutation_p.D682N|CIZ1_uc011maq.2_Missense_Mutation_p.D650N|CIZ1_uc004btu.3_Missense_Mutation_p.D631N|CIZ1_uc004btt.3_Missense_Mutation_p.D711N|CIZ1_uc011mar.2_Missense_Mutation_p.D610N|CIZ1_uc004btw.3_Missense_Mutation_p.D655N|CIZ1_uc004btv.3_Missense_Mutation_p.D711N	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA.	711						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TTGGCTTTGTCCTTATGCCCC	0.542000														22			19		0	0	0.012319	0	0
RAN	5901	broad.mit.edu	37	12	131359257	131359257	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:131359257C>T	uc001uis.3	+	3	770	c.474C>T	c.(472-474)ttC>ttT	p.F158F	RAN_uc001uir.3_Silent_p.F138F|RAN_uc010tbk.2_Silent_p.F50F|RAN_uc010tbl.2_Silent_p.F50F	NM_006325	NP_006316	P62826	RAN_HUMAN	Homo sapiens RAN, member RAS oncogene family (RAN), mRNA.	138					DNA metabolic process|RNA export from nucleus|androgen receptor signaling pathway|cell division|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	GTP binding|GTPase activity|androgen receptor binding|chromatin binding|transcription coactivator activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		CCATTGTCTTCCACCGAAAGA	0.383000														25			21		0	0	0.012319	0	0
RAVER1	125950	broad.mit.edu	37	19	10433932	10433932	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:10433932C>A	uc002moa.3	-	4	1098	c.1018G>T	c.(1018-1020)Gga>Tga	p.G340*		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	323	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GGGAGGAGTCCCTTCCCCCGA	0.672000														30			14		1.5739e-10	1.66189e-10	0.004007	1	0
CDH16	1014	broad.mit.edu	37	16	66948226	66948226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:66948226C>T	uc002eql.3	-	6	867	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	CDH16_uc010cdy.3_Missense_Mutation_p.A225T|CDH16_uc021tjx.1_Missense_Mutation_p.A225T|CDH16_uc002eqm.3_Missense_Mutation_p.A128T	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	225	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTGGCAGTGGCCTGGTGGCCT	0.587000														52			39		0	0	0.006999	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64599096	64599096	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:64599096C>T	uc001obs.4	-	27	3185	c.3185G>A	c.(3184-3186)gGt>gAt	p.G1062D		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1062	PH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CTGCAGCTCACCCAGCACCTG	0.687000											OREG0004016	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		14			24		0	0	0.005443	0	0
USP29	57663	broad.mit.edu	37	19	57641439	57641439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:57641439C>T	uc002qny.3	+	3	1752	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S	USP29_uc021vci.1_Missense_Mutation_p.P466S	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	466					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAACCACTTCCTTTGTCCAT	0.383000														50			40		0	0	0.004878	0	0
CNGB3	54714	broad.mit.edu	37	8	87738790	87738790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:87738790C>T	uc003ydx.3	-	2	355	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	103					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GGGTCCATTTCCTTCTGCTCT	0.438000														140			109		0	0	0.014410	0	0
BTBD3	22903	broad.mit.edu	37	20	11903873	11903874	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:11903873_11903874CC>TT	uc002wnz.3	+	3	1487_1488	c.1128_1129CC>TT	c.(1126-1131)caccgt>caTTgt	p.R377C	BTBD3_uc002wny.3_Missense_Mutation_p.R316C|BTBD3_uc002woa.3_Missense_Mutation_p.R316C|BTBD3_uc010zrf.2_Missense_Mutation_p.R226C|BTBD3_uc010zrg.2_Missense_Mutation_p.R226C|BTBD3_uc010zrh.2_Missense_Mutation_p.R226C	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	377										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						AGCGCTGTCACCGTTTCCAGTC	0.510000														30			20		0	0	0.004672	0	0
LRP1B	53353	broad.mit.edu	37	2	141773438	141773438	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:141773438C>T	uc002tvj.1	-	12	2989	c.2017G>A	c.(2017-2019)Gtg>Atg	p.V673M	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	673					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.V673L(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCCTTCCCACGCTGTCATCT	0.413000										TSP Lung(27;0.18)				32			25		0	0	0.006320	0	0
NTRK2	4915	broad.mit.edu	37	9	87636271	87636271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:87636271G>A	uc004aoa.1	+	19	3326	c.2388G>A	c.(2386-2388)atG>atA	p.M796I	NTRK2_uc004anz.1_Missense_Mutation_p.M812I	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	796	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						AGCCCCACATGAGGAAGAACA	0.597000										TSP Lung(25;0.17)				43			26		0	0	0.006320	0	0
DMBT1	1755	broad.mit.edu	37	10	124402799	124402799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:124402799G>A	uc001lgk.1	+	52	7233	c.7127G>A	c.(7126-7128)cGa>cAa	p.R2376Q	DMBT1_uc001lgl.1_Missense_Mutation_p.R2366Q|DMBT1_uc001lgm.1_Missense_Mutation_p.R1748Q|DMBT1_uc021qaf.1_Missense_Mutation_p.R2376Q|DMBT1_uc021qag.1_Missense_Mutation_p.R2366Q|DMBT1_uc021qah.1_Missense_Mutation_p.R1748Q|DMBT1_uc009xzz.1_Missense_Mutation_p.R2375Q|DMBT1_uc010qtx.1_Missense_Mutation_p.R1096Q|DMBT1_uc009yab.1_Missense_Mutation_p.R1079Q|DMBT1_uc009yac.1_Missense_Mutation_p.R670Q	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2376	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGCTGCTACCGAGGCTGTGTG	0.607000														50			42		0	0	0.008740	0	0
TRPM6	140803	broad.mit.edu	37	9	77377697	77377697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:77377697C>T	uc004ajl.1	-	25	4128	c.3890G>A	c.(3889-3891)aGg>aAg	p.R1297K	TRPM6_uc004ajk.1_Missense_Mutation_p.R1292K|TRPM6_uc022bib.1_Missense_Mutation_p.R1292K|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.R253K	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1297					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A1299fs*15(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAGTGCCCCCCTCTGCACTCT	0.478000														89			70		0	0	0.014410	0	0
PAPPA	5069	broad.mit.edu	37	9	119158854	119158854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:119158854G>A	uc004bjn.3	+	21	5224	c.4843G>A	c.(4843-4845)Gaa>Aaa	p.E1615K	PAPPA_uc011lxq.2_Missense_Mutation_p.E990K	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1615					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCAGGCCCAAGAACACAGCCG	0.517000														75			39		0	0	0.005524	0	0
OR5L2	26338	broad.mit.edu	37	11	55595333	55595333	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:55595333C>T	uc001nhy.1	+	0	639	c.639C>T	c.(637-639)atC>atT	p.I213I		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCATCATGATCATCCTCACCT	0.498000										HNSCC(27;0.073)				47			50		0	0	0.014410	0	0
LCP1	3936	broad.mit.edu	37	13	46721144	46721144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:46721144C>T	uc001vaz.4	-	9	1199	c.1073G>A	c.(1072-1074)gGg>gAg	p.G358E	LCP1_uc001vay.4_5'Flank|LCP1_uc001vba.4_Missense_Mutation_p.G358E	NM_002298	NP_002289	P13796	PLSL_HUMAN	Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.	358	Actin-binding 1.|CH 2.				T cell activation involved in immune response|regulation of intracellular protein transport	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CTTGGGGTTCCCTCGGACAAC	0.542000			T	BCL6	NHL									44			38		0	0	0.004878	0	0
SUPT16H	11198	broad.mit.edu	37	14	21827667	21827667	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:21827667G>A	uc001wao.2	-	18	2616	c.2277C>T	c.(2275-2277)gaC>gaT	p.D759D	SUPT16H_uc001wan.2_5'Flank	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	759					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GGTCATCTCGGTCATGCATAT	0.463000														49			29		0	0	0.007291	0	0
PRF1	5551	broad.mit.edu	37	10	72358251	72358252	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:72358251_72358252GG>AA	uc009xqg.3	-	2	1386_1387	c.1225_1226CC>TT	c.(1225-1227)cct>TTt	p.P409F	PRF1_uc001jrf.4_Missense_Mutation_p.P409F	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	409					apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCTCTGCCGAGGGCAGCAGTCC	0.668000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					19			14		0	0	0.004672	0	0
ACTL8	81569	broad.mit.edu	37	1	18152483	18152483	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:18152483G>A	uc001bat.3	+	2	786	c.570G>A	c.(568-570)aaG>aaA	p.K190K		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	190						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GTCTCTTTAAGGAAGATTGCG	0.602000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		5			39		0	0	0.007835	0	0
C3orf17	25871	broad.mit.edu	37	3	112729989	112729989	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:112729989G>A	uc003dzr.3	-	5	877	c.816C>T	c.(814-816)acC>acT	p.T272T	C3orf17_uc011bia.2_Silent_p.T69T|C3orf17_uc003dzu.3_Silent_p.T201T|C3orf17_uc011bib.2_Silent_p.T161T|C3orf17_uc011bic.2_Silent_p.T105T|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_Intron|C3orf17_uc003dzt.3_Silent_p.T175T|C3orf17_uc003dzs.3_Silent_p.T136T|C3orf17_uc010hqg.3_Silent_p.T97T	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	272						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TTCCAAGCAAGGTTTCTTCAC	0.323000														23			15		0	0	0.002450	0	0
COL4A5	1287	broad.mit.edu	37	X	107807133	107807133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:107807133C>T	uc022ccg.1	+	3	455	c.253C>T	c.(253-255)Cca>Tca	p.P85S	COL4A5_uc004enz.1_Missense_Mutation_p.P85S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	85	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.P85T(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AATTCCAGGGCCACCAGGACC	0.328000									Alport syndrome with Diffuse Leiomyomatosis					2			9		0	0	0.008291	0	0
TRHDE	29953	broad.mit.edu	37	12	72956810	72956810	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:72956810C>T	uc001sxa.3	+	8	1927	c.1897C>T	c.(1897-1899)Cag>Tag	p.Q633*		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	633					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						ACTTAAACTTCAGAATAACAG	0.274000														50			47		0	0	0.014410	0	0
ALPK1	80216	broad.mit.edu	37	4	113362185	113362185	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:113362185C>T	uc003ian.4	+	14	3878	c.3651C>T	c.(3649-3651)ttC>ttT	p.F1217F	ALPK1_uc003iap.4_Silent_p.F1217F|ALPK1_uc011cfx.2_Silent_p.F1139F|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Silent_p.F1045F	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	1217	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTTTTTACTTCTTTAATAACC	0.383000														54			53		0	0	0.014410	0	0
SLC22A25	387601	broad.mit.edu	37	11	62933578	62933578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:62933578C>T	uc001nwr.1	-	6	1223	c.1223G>A	c.(1222-1224)aGc>aAc	p.S408N	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_3'UTR	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	408					transmembrane transport	integral to membrane		p.S408S(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AAGCATCTGGCTTAGTCGACG	0.478000														26			19		0	0	0.007413	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452686	130452686	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:130452686G>T	uc003enj.3	-	3	1737	c.1156C>A	c.(1156-1158)Cta>Ata	p.L386I		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA.	386					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AGGGTCTGTAGGCAGGATGTT	0.403000														73			42		1.57019e-19	1.67611e-19	0.007835	1	0
FAT3	120114	broad.mit.edu	37	11	92085899	92085899	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:92085899C>T	uc001pdj.4	+	0	638	c.621C>T	c.(619-621)caC>caT	p.H207H		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	207	Cadherin 2.				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)				TTTCAGTTCACCCCACGAGTG	0.408000										TCGA Ovarian(4;0.039)				250			205		0	0	0.014410	0	0
RAD51B	5890	broad.mit.edu	37	14	68934942	68934942	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:68934942C>T	uc001xkf.2	+	9	1088	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	RAD51B_uc001xkd.3_Silent_p.I337I|RAD51B_uc010aqr.3_Silent_p.I218I|RAD51B_uc001xke.3_Silent_p.I337I|RAD51B_uc001xkg.2_Silent_p.I337I	NM_133509	NP_598193	O15315	RA51B_HUMAN	Homo sapiens RAD51 homolog B (S. cerevisiae) (RAD51B), transcript variant 3, mRNA.	337					DNA repair|blood coagulation|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCTACACCATCAAGGAGGAAG	0.438000								Direct reversal of damage						91			60		0	0	0.014410	0	0
FYB	2533	broad.mit.edu	37	5	39202457	39202457	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:39202457C>T	uc003jls.3	-	0	673	c.606G>A	c.(604-606)ccG>ccA	p.P202P	FYB_uc003jlt.3_Silent_p.P202P|FYB_uc003jlu.3_Silent_p.P202P|FYB_uc011cpl.2_Silent_p.P212P	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	202					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TACTTAGGGGCGGCTTCTGGC	0.522000														11			41		0	0	0.007835	0	0
CTAGE6P	340307	broad.mit.edu	37	7	143453510	143453510	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:143453510C>T	uc003wdk.4	-	0	1334	c.1242G>A	c.(1240-1242)gaG>gaA	p.E414E	FAM115C_uc011ktn.1_Intron|FAM115C_uc011kto.2_Intron|FAM115C_uc011ktp.2_Intron|FAM115C_uc011ktq.1_Intron|FAM115C_uc011ktr.1_Intron|FAM115C_uc011kts.1_Intron|FAM115C_uc003wdj.1_Intron	NM_178561	NP_848656	Q86UF2	CTGE6_HUMAN	Homo sapiens CTAGE family, member 6, pseudogene (CTAGE6P), mRNA.	414						integral to membrane											TAGAAAGCTTCTCTTCTTCCT	0.373000														124			34		0	0	0.012213	0	0
TNFRSF14	8764	broad.mit.edu	37	1	2494649	2494649	+	Missense_Mutation	SNP	C	G	G	rs143633292	by1000genomes	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:2494649C>G	uc001ajr.3	+	7	1088	c.789C>G	c.(787-789)gaC>gaG	p.D263E	TNFRSF14_uc001ajt.1_3'UTR	NM_003820	NP_003811	Q92956	TNR14_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 14 (TNFRSF14), mRNA.	263					T cell costimulation|immune response|interspecies interaction between organisms		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		CCCCTCCGGACGTCACCACGG	0.622000			"""Mis, N, F"""		follicular lymphoma									10			65		0	0	0.014410	0	0
FAT4	79633	broad.mit.edu	37	4	126372430	126372430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:126372430G>A	uc003ifj.4	+	8	10259	c.10259G>A	c.(10258-10260)gGa>gAa	p.G3420E	FAT4_uc011cgp.2_Missense_Mutation_p.G1718E|FAT4_uc003ifi.1_Missense_Mutation_p.G898E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3420	Cadherin 33.				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						GTCCCAATAGGAACTCATGTG	0.463000														52			33		0	0	0.004289	0	0
GRIP2	80852	broad.mit.edu	37	3	14554361	14554361	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:14554361G>A	uc021wtn.1	-	15	1932	c.1932C>T	c.(1930-1932)tcC>tcT	p.S644S	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	548					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TTGGGATGACGGACTCTGGGG	0.612000														39			23		0	0	0.003954	0	0
NPAS2	4862	broad.mit.edu	37	2	101604668	101604668	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:101604668C>T	uc010yvt.1	+	16	1954	c.1952C>T	c.(1951-1953)cCa>cTa	p.P651L	NPAS2_uc002tap.1_Missense_Mutation_p.P586L|NPAS2_uc010fit.1_Intron	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	586					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCCAACTTCCAGGGCAGATC	0.592000														42			37		0	0	0.003271	0	0
CNOT1	23019	broad.mit.edu	37	16	58585169	58585169	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:58585169A>T	uc002env.3	-	23	3502	c.3209T>A	c.(3208-3210)aTt>aAt	p.I1070N	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.I1065N|CNOT1_uc002enx.3_Missense_Mutation_p.I1070N|CNOT1_uc002enz.1_Missense_Mutation_p.I499N|CNOT1_uc010vik.2_Missense_Mutation_p.I66N|SNORA46_uc002eny.1_5'Flank	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1070					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTAGTATTAATAGAAGGCTA	0.303000														59			61		0	0	0.014410	0	0
ODZ3	55714	broad.mit.edu	37	4	183600840	183600840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:183600840G>A	uc003ivd.1	+	6	1423	c.1348G>A	c.(1348-1350)Gat>Aat	p.D450N	ODZ3_uc003ive.1_5'Flank	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	450					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGAGCTCCTGGATGGCAGCAG	0.537000														37			30		0	0	0.009535	0	0
C6	729	broad.mit.edu	37	5	41176592	41176592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:41176592C>T	uc003jmk.2	-	7	1363	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	C6_uc003jml.1_Missense_Mutation_p.E385K|RN7SK_uc021xxu.1_5'Flank	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	385	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTCTTTAGTTCCTCACTGCTA	0.393000														1			12		0	0	0.010729	0	0
SCIN	85477	broad.mit.edu	37	7	12666342	12666342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:12666342C>T	uc003ssn.4	+	7	1325	c.1115C>T	c.(1114-1116)cCc>cTc	p.P372L	SCIN_uc010ktt.3_Non-coding_Transcript|SCIN_uc003sso.4_Missense_Mutation_p.P125L	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	372	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AAACAAATTCCCTTTGATGCC	0.408000														8			3		0	0	0.004672	0	0
ASTN2	23245	broad.mit.edu	37	9	119625870	119625870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:119625870C>T	uc004bjt.2	-	9	1980	c.1879G>A	c.(1879-1881)Gga>Aga	p.G627R	ASTN2_uc022bml.1_Missense_Mutation_p.G323R|ASTN2_uc022bmm.1_Missense_Mutation_p.G327R	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	678						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						ACCACACATCCCGAGGAATCC	0.612000														34			11		0	0	0.003163	0	0
RGPD4	285190	broad.mit.edu	37	2	108488174	108488174	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:108488174C>T	uc010ywk.2	+	19	3796	c.3714C>T	c.(3712-3714)ccC>ccT	p.P1238P	RGPD4_uc002tdu.3_Silent_p.P425P|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1238					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAATAAAACCCAATCCTGAAA	0.418000														148			114		0	0	0.014410	0	0
XPO4	64328	broad.mit.edu	37	13	21417979	21417979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:21417979G>A	uc001unq.4	-	4	539	c.503C>T	c.(502-504)tCa>tTa	p.S168L	XPO4_uc010tcr.1_Missense_Mutation_p.S94L	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	168					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ACTTGAACTTGAAAATTCACT	0.343000														29			19		0	0	0.006122	0	0
ZNF354B	117608	broad.mit.edu	37	5	178311020	178311020	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:178311020C>T	uc003mjl.3	+	4	1793	c.1567C>T	c.(1567-1569)Cga>Tga	p.R523*	ZNF354B_uc003mjm.3_Nonsense_Mutation_p.R523*	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Homo sapiens zinc finger protein 354B (ZNF354B), mRNA.	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	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)			GAAACCATATCGATGTTTAGA	0.383000														8			13		0	0	0.001855	0	0
FAT4	79633	broad.mit.edu	37	4	126336140	126336140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:126336140C>T	uc003ifj.4	+	4	6022	c.6022C>T	c.(6022-6024)Cgg>Tgg	p.R2008W	FAT4_uc011cgp.2_Missense_Mutation_p.R306W	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2008	Cadherin 19.				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						AGCTTTGGATCGGGAAAGTCA	0.433000														71			54		0	0	0.014410	0	0
INHBB	3625	broad.mit.edu	37	2	121107433	121107433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:121107433G>A	uc002tmn.2	+	1	1253	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	403					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GATTGTGGAGGAGTGCGGCTG	0.632000														9			11		0	0	0.010729	0	0
NLRP11	204801	broad.mit.edu	37	19	56321202	56321202	+	Silent	SNP	G	A	A	rs140447447	byFrequency	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:56321202G>A	uc010ygf.2	-	4	1485	c.774C>T	c.(772-774)ctC>ctT	p.L258L	NLRP11_uc002qlz.3_Silent_p.L159L|NLRP11_uc002qmb.3_Silent_p.L159L|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	258	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AACTGACCAGGAGAACTGGAA	0.443000														28			23		0	0	0.003330	0	0
BTNL2	56244	broad.mit.edu	37	6	32372808	32372809	+	Missense_Mutation	DNP	TG	AA	AA			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:32372808_32372809TG>AA	uc003obg.1	-	1	334_335	c.334_335CA>TT	c.(334-336)cac>TTc	p.H112F	BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	112	Ig-like V-type 1.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CTGGATGTTGTGTATCTTCAGT	0.490000														20			120		0	0	0.004672	0	0
NBPF10	100132406	broad.mit.edu	37	1	144619403	144619403	+	Missense_Mutation	SNP	A	G	G	rs4067646		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:144619403A>G	uc009wig.1	+	5	738	c.544A>G	c.(544-546)Aaa>Gaa	p.K182E	NBPF10_uc010oxo.1_Missense_Mutation_p.K184E|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.K115E|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	184										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)		GAAAGTGCAGAAATCATCTGC	0.413000														254			7		0	0	0.003080	0	0
ZNF534	147658	broad.mit.edu	37	19	52942068	52942068	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:52942068C>T	uc002pzk.3	+	3	1461	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.S452F	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACAAGTCTTCCCTAACCTAT	0.423000														1			4		0	0	0.000602	0	0
LOXL4	84171	broad.mit.edu	37	10	100016611	100016611	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:100016611C>T	uc001kpa.1	-	8	1505	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA.	452	SRCR 4.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CCCCAGTTTTCACTGCACACG	0.617000														35			33		0	0	0.003271	0	0
PARP9	83666	broad.mit.edu	37	3	122274967	122274967	+	Splice_Site	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:122274967C>T	uc010hri.3	-	4	300	c.155_splice	c.e4-1	p.E52_splice	PARP9_uc003eff.4_Splice_Site_p.E17_splice|PARP9_uc011bjs.2_Splice_Site_p.E17_splice|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Splice_Site_p.E17_splice|PARP9_uc003efh.3_Splice_Site_p.E52_splice|PARP9_uc003efj.2_Splice_Site_p.E17_splice	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	52					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GAGCACCAGTCTCTGGAAAAG	0.333000														13			9		0	0	0.004482	0	0
CCDC148	130940	broad.mit.edu	37	2	159107317	159107317	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:159107317C>T	uc002tzq.3	-	9	1532	c.1218G>A	c.(1216-1218)aaG>aaA	p.K406K	CCDC148_uc002tzr.3_Silent_p.K254K|CCDC148_uc010foh.3_Silent_p.K119K	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	406	Glu/Lys-rich.									endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						gcaacaattccttcttcttcc	0.388000														6			5		0	0	0.000602	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208773280	208773280	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:208773280G>A	uc002vcl.2	-	5	2398	c.1908C>T	c.(1906-1908)ctC>ctT	p.L636L	PLEKHM3_uc002vcm.2_Missense_Mutation_p.S651F	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	636					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTGTTGAAGGAGGTATTCTC	0.438000														44			34		0	0	0.004878	0	0
FBXL13	222235	broad.mit.edu	37	7	102665603	102665603	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:102665603G>A	uc003vaq.2	-	5	829	c.402C>T	c.(400-402)tcC>tcT	p.S134S	FBXL13_uc010liq.1_5'UTR|FBXL13_uc010lir.1_Silent_p.S134S|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Silent_p.S134S|FBXL13_uc003vav.2_Non-coding_Transcript	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	134										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CAGGAAAATTGGATTCTTCTG	0.303000														21			18		0	0	0.006122	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600158	41600158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:41600158C>T	uc002opt.3	+	6	991	c.982C>T	c.(982-984)Cat>Tat	p.H328Y		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	328					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	AGCCAAGGTCCATGAGGAGAT	0.537000														28			29		0	0	0.006320	0	0
abParts	0	broad.mit.edu	37	14	107062222	107062222	+	RNA	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:107062222C>T	uc021ser.1	-	150		c.6764G>A								Parts of antibodies, mostly variable regions.																		CATGGTGATTCGACTCTTGAG	0.567000														59			37		0	0	0.003755	0	0
CNGA3	1261	broad.mit.edu	37	2	99012414	99012414	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:99012414C>G	uc010fij.3	+	7	934	c.793C>G	c.(793-795)Ctg>Gtg	p.L265V	CNGA3_uc002syt.3_Missense_Mutation_p.L261V|CNGA3_uc002syu.3_Missense_Mutation_p.L243V			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	261					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						CCCCACCGACCTGGCTTACTT	0.517000														36			24		0	0	0.004656	0	0
ELMO2	63916	broad.mit.edu	37	20	45000553	45000553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:45000553G>A	uc010zxr.1	-	17	1718	c.1508C>T	c.(1507-1509)tCt>tTt	p.S503F	ELMO2_uc010zxq.1_Missense_Mutation_p.S223F|ELMO2_uc002xrs.1_Missense_Mutation_p.S238F|ELMO2_uc002xrt.1_Missense_Mutation_p.S491F|ELMO2_uc002xru.1_Missense_Mutation_p.S491F|ELMO2_uc010zxs.1_Missense_Mutation_p.S308F|ELMO2_uc002xrv.1_Missense_Mutation_p.S210F	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	491					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	SH3 domain binding|lyase activity|receptor tyrosine kinase binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CTGATCCAAAGAGTTGGGTTT	0.502000														34			28		0	0	0.007291	0	0
ZNF536	9745	broad.mit.edu	37	19	31039364	31039364	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:31039364C>T	uc002nsu.1	+	3	2976	c.2838C>T	c.(2836-2838)tcC>tcT	p.S946S	ZNF536_uc010edd.1_Silent_p.S946S	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	946					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)					ACCCCCCTTCCATGAAAGTCC	0.517000														86			81		0	0	0.014410	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51631270	51631270	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:51631270C>T	uc010yct.2	+	4	1175	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	SIGLEC9_uc002pvu.3_Silent_p.F360F	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	360					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CCCTGGTCTTCCTGTCCTTCT	0.567000														80			87		0	0	0.014410	0	0
NR3C2	4306	broad.mit.edu	37	4	149075792	149075792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:149075792G>A	uc003ilj.4	-	4	2638	c.2275C>T	c.(2275-2277)Cca>Tca	p.P759S	NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	759	Steroid-binding.		P -> S (in AD-PHA1).		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)	GCTGTATCTGGTTTTGAGCTG	0.488000														90			79		0	0	0.014410	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37499418	37499418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:37499418C>T	uc003aqt.1	-	1	102	c.40G>A	c.(40-42)Ggg>Agg	p.G14R	TMPRSS6_uc003aqs.1_Missense_Mutation_p.G23R|TMPRSS6_uc003aqu.3_Missense_Mutation_p.G14R	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	23					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CCTCCGTCCCCCTGCCCGCCA	0.657000														82			68		0	0	0.014410	0	0
ATG13	9776	broad.mit.edu	37	11	46667426	46667426	+	Silent	SNP	T	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:46667426T>C	uc001nda.3	+	3	785	c.157T>C	c.(157-159)Tta>Cta	p.L53L	ATG13_uc009yld.3_Silent_p.L53L|ATG13_uc001ndb.3_Silent_p.L53L|ATG13_uc001ncz.3_Silent_p.L53L|ATG13_uc001ndc.3_Silent_p.L53L|ATG13_uc010rgv.2_5'UTR	NM_001205119	NP_001192048	O75143	ATG13_HUMAN	Homo sapiens ATG13 autophagy related 13 homolog (S. cerevisiae) (ATG13), transcript variant 3, mRNA.	53					autophagic vacuole assembly	ULK1-ATG13-FIP200 complex|cytosol|pre-autophagosomal structure	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						CCAGTTCAACTTAGCAATCAA	0.443000														19			22		0	0	0.012319	0	0
MC2R	4158	broad.mit.edu	37	18	13885332	13885332	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:13885332G>A	uc002ksp.1	-	1	363	c.186C>T	c.(184-186)ttC>ttT	p.F62F	MC2R_uc021uhs.1_Silent_p.F62F	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	62					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGCTACAGATGAAAAAGTACA	0.408000														18			14		0	0	0.002450	0	0
NRBP1	29959	broad.mit.edu	37	2	27664672	27664672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:27664672C>T	uc002rko.3	+	18	2433	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	NRBP1_uc002rkp.3_Missense_Mutation_p.S534F|NRBP1_uc002rkr.3_Missense_Mutation_p.S325F|KRTCAP3_uc002rks.3_5'Flank|KRTCAP3_uc010ylr.2_5'Flank|KRTCAP3_uc021vfd.1_5'Flank|KRTCAP3_uc002rkt.3_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	Homo sapiens nuclear receptor binding protein 1 (NRBP1), mRNA.	534					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GTCACCGTCTCCTCTTAGAGC	0.577000														54			64		0	0	0.014410	0	0
KCTD2	23510	broad.mit.edu	37	17	73059116	73059116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:73059116C>T	uc002jmp.3	+	5	833	c.766C>T	c.(766-768)Ctt>Ttt	p.L256F	KCTD2_uc010dfz.3_Non-coding_Transcript|KCTD2_uc002jmq.3_Non-coding_Transcript	NM_015353	NP_056168	Q14681	KCTD2_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 2 (KCTD2), mRNA.	256						voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					CTTTCAGATTCTTCAGGAGAG	0.542000														14			11		0	0	0.013537	0	0
MYH7	4625	broad.mit.edu	37	14	23899827	23899827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:23899827G>A	uc001wjx.3	-	10	1047	c.941C>T	c.(940-942)tCc>tTc	p.S314F		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	314	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCTCCTTGGGAGATGAATGC	0.567000														27			17		0	0	0.012319	0	0
KSR2	283455	broad.mit.edu	37	12	118199001	118199001	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:118199001G>A	uc001two.2	-	3	769	c.714C>T	c.(712-714)atC>atT	p.I238I		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	267	Pro-rich.				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)					CGGTGGTGACGATGTTGGGGG	0.721000														139			92		0	0	0.014410	0	0
MYH7	4625	broad.mit.edu	37	14	23894992	23894993	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:23894992_23894993CC>TT	uc001wjx.3	-	19	2303_2304	c.2197_2198GG>AA	c.(2197-2199)gga>AAa	p.G733K		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	733	Myosin head-like.		G -> E (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AATGAACTGTCCCTCAGGGATG	0.545000														50			31		0	0	0.004672	0	0
PELP1	27043	broad.mit.edu	37	17	4575893	4575893	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:4575893A>G	uc002fyi.4	-	15	2619	c.2393T>C	c.(2392-2394)cTg>cCg	p.L798P	PELP1_uc010vsf.2_Missense_Mutation_p.L651P	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	798	Pro-rich.				transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TGGGGGTGGCAGGGGGGGAAG	0.612000														29			4		0	0	0.008291	0	0
FAM123C	205147	broad.mit.edu	37	2	131521642	131521642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:131521642C>T	uc021voy.1	+	0	1997	c.1997C>T	c.(1996-1998)aCt>aTt	p.T666I	FAM123C_uc002trw.2_Missense_Mutation_p.T666I|FAM123C_uc010fmv.2_Missense_Mutation_p.T666I|FAM123C_uc010fms.1_Missense_Mutation_p.T666I|FAM123C_uc010fmt.1_Missense_Mutation_p.T666I|FAM123C_uc010fmu.1_Missense_Mutation_p.T666I	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	666										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGAGGTGACACTCTGGATGCA	0.657000														16			10		0	0	0.006214	0	0
ABRA	137735	broad.mit.edu	37	8	107782255	107782255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:107782255C>T	uc003ymm.4	-	0	218	c.164G>A	c.(163-165)gGg>gAg	p.G55E		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	55					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GTCCTGGGTCCCTCCCGGCAG	0.617000														42			42		0	0	0.009718	0	0
PREX2	80243	broad.mit.edu	37	8	69011978	69011978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:69011978C>T	uc003xxv.1	+	22	2642	c.2615C>T	c.(2614-2616)tCt>tTt	p.S872F	PREX2_uc003xxu.1_Missense_Mutation_p.S872F|PREX2_uc011lez.1_Missense_Mutation_p.S807F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	872					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGCCTAAATTCTCTAAATGAA	0.393000														32			32		0	0	0.012213	0	0
ADCY8	114	broad.mit.edu	37	8	131859670	131859670	+	Splice_Site	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:131859670C>T	uc003ytd.4	-	11	2758	c.2502_splice	c.e11+1	p.E834_splice	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	834					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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAATAAATACCTCTGGGTAGG	0.423000										HNSCC(32;0.087)				30			13		0	0	0.001855	0	0
LYRM1	57149	broad.mit.edu	37	16	20927004	20927004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:20927004G>A	uc010bwj.3	+	1	428	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	LYRM1_uc010bwi.1_Non-coding_Transcript|LYRM1_uc010bwk.3_Intron|LYRM1_uc002dia.4_Missense_Mutation_p.E43K|LYRM1_uc010bwl.3_Missense_Mutation_p.E43K|LYRM1_uc010bwm.3_Intron|LYRM1_uc002dib.3_Missense_Mutation_p.E43K	NM_020424	NP_065157	O43325	LYRM1_HUMAN	Homo sapiens LYR motif containing 1 (LYRM1), transcript variant 1, mRNA.	43						nucleus				large_intestine(1)|prostate(1)	2						CATACTAAATGAAGCCAGAAC	0.438000														45			20		0	0	0.008871	0	0
SLC6A20	54716	broad.mit.edu	37	3	45823701	45823701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:45823701G>A	uc011bai.2	-	1	260	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	SLC6A20_uc011baj.2_Missense_Mutation_p.P46S	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	46					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.P46S(2)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		ATGATGTAGGGGACCAGGAAA	0.577000														27			10		0	0	0.008291	0	0
OR5H15	403274	broad.mit.edu	37	3	97887907	97887907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:97887907C>T	uc011bgu.2	+	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GGCATATGATCGCTATGTAGC	0.378000														56			40		0	0	0.009718	0	0
POLG2	11232	broad.mit.edu	37	17	62487001	62487001	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:62487001G>A	uc002jei.3	-	3	979	c.881C>T	c.(880-882)cCc>cTc	p.P294L	POLG2_uc021ubq.1_Missense_Mutation_p.P27L|POLG2_uc010deg.2_Missense_Mutation_p.P294L	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	Homo sapiens polymerase (DNA directed), gamma 2, accessory subunit (POLG2), nuclear gene encoding mitochondrial protein, mRNA.	294					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	p.P294S(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CTTTCCCCAGGGAAAATTGTA	0.403000														28			22		0	0	0.014323	0	0
CDK8	1024	broad.mit.edu	37	13	26967593	26967593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:26967593C>T	uc001uqr.1	+	6	759	c.736C>T	c.(736-738)Cct>Tct	p.P246S	CDK8_uc001uqs.1_Missense_Mutation_p.P246S|CDK8_uc001uqt.1_Missense_Mutation_p.P73S	NM_001260	NP_001251	P49336	CDK8_HUMAN	Homo sapiens cyclin-dependent kinase 8 (CDK8), mRNA.	246	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AACTAGTAATCCTTATCACCA	0.343000														89			59		0	0	0.014410	0	0
SALL1	6299	broad.mit.edu	37	16	51174131	51174131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:51174131C>T	uc021tif.1	-	1	2033	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K	SALL1_uc021tid.1_Missense_Mutation_p.E571K|SALL1_uc021tie.1_Missense_Mutation_p.E668K|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	668					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTGAACTGCTCGGACATGAGC	0.592000														51			42		0	0	0.008740	0	0
PMFBP1	83449	broad.mit.edu	37	16	72164554	72164554	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:72164554C>T	uc002fcc.4	-	10	1702	c.1530G>A	c.(1528-1530)agG>agA	p.R510R	PMFBP1_uc002fcd.3_Silent_p.R505R|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.R360R|PMFBP1_uc010cgo.1_5'Flank	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	510										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TCTGCAGTTTCCTCTGGGTGT	0.567000														31			19		0	0	0.007413	0	0
HABP2	3026	broad.mit.edu	37	10	115343036	115343036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:115343036C>T	uc001lai.4	+	9	1259	c.1156C>T	c.(1156-1158)Cat>Tat	p.H386Y	HABP2_uc021pyr.1_Missense_Mutation_p.H360Y|HABP2_uc010qrz.1_Non-coding_Transcript	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	386	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AGAAGAATTTCATGAGCAGAG	0.438000														36			34		0	0	0.004289	0	0
CPS1	1373	broad.mit.edu	37	2	211457632	211457632	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:211457632C>T	uc010fur.3	+	11	1216	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	CPS1_uc002vee.4_Silent_p.F372F|CPS1_uc010fus.3_5'Flank	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	372	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.P378P(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AACCCTTCTTCGCTGTGCAGT	0.408000														71			56		0	0	0.014410	0	0
DMRT3	58524	broad.mit.edu	37	9	990863	990863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:990863C>T	uc003zgw.1	+	1	1315	c.1277C>T	c.(1276-1278)cCt>cTt	p.P426L		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	426					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.P426S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCCGTCCTTCCTGCCCGCGCC	0.552000														8			27		0	0	0.003954	0	0
POLR1A	25885	broad.mit.edu	37	2	86310264	86310264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:86310264C>T	uc002sqs.3	-	6	1137	c.758G>A	c.(757-759)cGa>cAa	p.R253Q		NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	253					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TAAGTATCCTCGTTTTCCTAT	0.443000														40			20		0	0	0.002780	0	0
MMP1	4312	broad.mit.edu	37	11	102661530	102661530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:102661530C>T	uc001phi.2	-	8	1347	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.E336K	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	402	Hemopexin-like 3.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CGTTTATATTCATCATACCTG	0.363000														32			38		0	0	0.005524	0	0
UTP20	27340	broad.mit.edu	37	12	101731947	101731947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:101731947G>A	uc001tia.1	+	29	3916	c.3760G>A	c.(3760-3762)Gac>Aac	p.D1254N		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1254					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TATTGTAATGGACATAGTTGA	0.423000														55			46		0	0	0.014410	0	0
DNAH17	8632	broad.mit.edu	37	17	76455103	76455104	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:76455103_76455104GG>AA	uc010dhp.2	-	60	9965_9966	c.9840_9841CC>TT	c.(9838-9843)tcccgg>tcTTgg	p.R3281W	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTTTTGATCCGGGACAGCTTCT	0.579000														51			37		0	0	0.004672	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531414	140531414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:140531414G>A	uc003lir.3	+	0	1576	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGTCTTTCGAGTTCCGCGT	0.672000														11			54		0	0	0.014410	0	0
XIRP2	129446	broad.mit.edu	37	2	168105732	168105732	+	Silent	SNP	C	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:168105732C>A	uc002udx.3	+	8	7919	c.7830C>A	c.(7828-7830)ccC>ccA	p.P2610P	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.P2435P|XIRP2_uc010fpq.3_Silent_p.P2388P|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2435					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						TGGTTCAACCCAGCCCAGGCT	0.463000														42			35		3.90053e-15	4.14852e-15	0.012213	1	0
ABCC9	10060	broad.mit.edu	37	12	22001151	22001151	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:22001151C>T	uc001rfh.3	-	22	2819	c.2799G>A	c.(2797-2799)gaG>gaA	p.E933E	ABCC9_uc001rfi.1_Silent_p.E933E	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	933					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAGTTTTCCTCTCTAAAGTAG	0.413000														51			28		0	0	0.012213	0	0
OR52E6	390078	broad.mit.edu	37	11	5862787	5862787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:5862787C>T	uc010qzq.2	-	0	341	c.341G>A	c.(340-342)aGc>aAc	p.S114N	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATACGATGCTCTCCATGAC	0.448000														96			70		0	0	0.014410	0	0
DNAH17	8632	broad.mit.edu	37	17	76528651	76528651	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:76528651C>T	uc010dhp.2	-	19	3152	c.3027G>A	c.(3025-3027)ggG>ggA	p.G1009G		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGACTGCACACCCATATATCA	0.557000														4			12		0	0	0.010729	0	0
MATR3	9782	broad.mit.edu	37	5	138651821	138651821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:138651821C>T	uc003ldw.3	+	5	1476	c.1073C>T	c.(1072-1074)cCt>cTt	p.P358L	MATR3_uc003ldt.3_Missense_Mutation_p.P20L|MATR3_uc003ldu.3_Missense_Mutation_p.P358L|MATR3_uc010jfb.3_Missense_Mutation_p.P358L|MATR3_uc003ldx.3_Missense_Mutation_p.P358L|MATR3_uc003ldy.3_Missense_Mutation_p.P35L|MATR3_uc003ldz.3_Missense_Mutation_p.P358L|MATR3_uc011czb.2_Missense_Mutation_p.P70L|MATR3_uc003leb.3_Missense_Mutation_p.P20L|MATR3_uc003lec.3_Missense_Mutation_p.P35L	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	358						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATTCTGGGACCTCCACCTCCC	0.413000														9			37		0	0	0.007835	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141197	63141197	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:63141197C>T	uc001nww.3	+	2	856	c.588C>T	c.(586-588)ttC>ttT	p.F196F	SLC22A9_uc001nwx.3_Intron	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	196					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTCCCACCTTCCTCATTTACT	0.463000														44			28		0	0	0.009535	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642985	1642985	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:1642985G>A	uc009ycy.1	-	1	321	c.234C>T	c.(232-234)tcC>tcT	p.S78S	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	173	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCCCCACAGGAGCCACAGC	0.667000														65			35		0	0	0.004878	0	0
KRT78	196374	broad.mit.edu	37	12	53242411	53242411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:53242411G>A	uc001sbc.1	-	0	368	c.304C>T	c.(304-306)Ccc>Tcc	p.P102S		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	102	Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TGGAACTGGGGATCGATCTCA	0.572000														22			19		0	0	0.012319	0	0
VDAC2	7417	broad.mit.edu	37	10	76990717	76990717	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:76990717G>A	uc001jxa.3	+	10	1455	c.900G>A	c.(898-900)aaG>aaA	p.K300K	VDAC2_uc021ptp.1_Silent_p.K285K|VDAC2_uc010qld.2_Silent_p.K246K|VDAC2_uc001jwz.3_Silent_p.K285K|VDAC2_uc010qle.2_Silent_p.K246K	NM_001184783	NP_001171712	P45880	VDAC2_HUMAN	Homo sapiens voltage-dependent anion channel 2 (VDAC2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	285						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	GAGGCCACAAGGTTGGGCTCG	0.428000											OREG0020276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			13		0	0	0.001855	0	0
SPCS2	9789	broad.mit.edu	37	11	74680701	74680701	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:74680701A>G	uc001ovu.2	+	3	490	c.451A>G	c.(451-453)Atg>Gtg	p.M151V		NM_014752	NP_055567	Q15005	SPCS2_HUMAN	Homo sapiens signal peptidase complex subunit 2 homolog (S. cerevisiae) (SPCS2), mRNA.	151					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			breast(1)	1						TCCTACAGGAATGGATCCTGA	0.418000														57			50		0	0	0.014410	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143973992	143973992	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:143973992G>T	uc002tvm.4	+	3	425	c.274G>T	c.(274-276)Gca>Tca	p.A92S	ARHGAP15_uc010zbl.1_Missense_Mutation_p.A92S	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	92	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	Rac GTPase activator activity|protein binding			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AGCTAAAATTGCAGATGGAGG	0.308000														45			32		4.39465e-27	4.7299e-27	0.013726	1	0
OR1K1	392392	broad.mit.edu	37	9	125563054	125563054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:125563054C>T	uc011lze.2	+	0	653	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						ATCCTCGCCTCCTATGGGGCC	0.652000														25			29		0	0	0.006320	0	0
CHP1	11261	broad.mit.edu	37	15	41562787	41562787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:41562787G>A	uc001znl.3	+	4	526	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	CHP1_uc021sjk.1_Intron|CHP1_uc021sjl.1_Non-coding_Transcript	NM_007236	NP_009167	Q99653	CHP1_HUMAN	Homo sapiens calcium binding protein P22 (CHP), mRNA.	128	EF-hand 3.				potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity										GGATAAAGATGAAAAGATCTC	0.413000														40			31		0	0	0.013726	0	0
ADD2	119	broad.mit.edu	37	2	70900138	70900138	+	Splice_Site	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:70900138C>T	uc021vjc.1	-	15	2007	c.1742_splice	c.e15-1	p.G581_splice	ADD2_uc010fds.2_Splice_Site|ADD2_uc002sgy.3_Splice_Site_p.E610_splice|ADD2_uc002sgz.3_Splice_Site_p.G581_splice	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	581					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTCTTTCTCTCCTGAAAAAAC	0.458000														25			10		0	0	0.001855	0	0
BANK1	55024	broad.mit.edu	37	4	102791789	102791789	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:102791789G>A	uc003hvy.4	+	4	1165	c.891G>A	c.(889-891)gaG>gaA	p.E297E	BANK1_uc003hvx.4_Silent_p.E282E|BANK1_uc010ill.3_Silent_p.E164E|BANK1_uc003hvz.4_Silent_p.E267E	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	297	DBB.				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)		ATTCAGGAGAGAGTTTGTGCC	0.378000														16			12		0	0	0.010729	0	0
PTGIS	5740	broad.mit.edu	37	20	48129705	48129705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:48129705C>T	uc002xut.3	-	7	1172	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	PTGIS_uc010zyi.2_Missense_Mutation_p.R234Q	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	373					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GTTGAATTCTCGCCCGTCTGC	0.602000														51			36		0	0	0.010771	0	0
TCN1	6947	broad.mit.edu	37	11	59630112	59630112	+	Missense_Mutation	SNP	C	T	T	rs35287646	byFrequency	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:59630112C>T	uc001noj.2	-	2	441	c.343G>A	c.(343-345)Gat>Aat	p.D115N		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	115					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	p.D115N(2)|p.Y114*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGTGGTAATCATATATTAAG	0.363000														52			15		0	0	0.003163	0	0
KRT39	390792	broad.mit.edu	37	17	39122874	39122874	+	Missense_Mutation	SNP	G	A	A	rs147200744		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:39122874G>A	uc002hvo.1	-	0	271	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	79	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AGAGAAAAACGGGCATTGAAG	0.512000														114			108		0	0	0.014410	0	0
BRE	9577	broad.mit.edu	37	2	28521344	28521344	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:28521344G>A	uc002rls.3	+	10	1326	c.1074G>A	c.(1072-1074)atG>atA	p.M358I	BRE_uc002rlp.1_Missense_Mutation_p.M358I|BRE_uc002rlq.3_Missense_Mutation_p.M358I|BRE_uc002rlr.3_Missense_Mutation_p.M358I|BRE_uc002rlt.3_Missense_Mutation_p.M358I|BRE_uc002rlu.3_Missense_Mutation_p.M358I|BRE_uc002rlv.3_Missense_Mutation_p.M220I	NM_004899	NP_004890	Q9NXR7	BRE_HUMAN	Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA.	358	UEV-like 2.				G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					GAAATGAAATGGCCAAAAGAG	0.433000														33			35		0	0	0.013726	0	0
EEF1A1	1915	broad.mit.edu	37	6	74228328	74228328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:74228328C>T	uc003phi.3	-	4	1770	c.778G>A	c.(778-780)Ggt>Agt	p.G260S	EEF1A1_uc003phj.3_Missense_Mutation_p.G260S|EEF1A1_uc021zbs.1_Intron|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	260						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.G260C(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GGAACAGTACCAATACCTAAA	0.413000											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		32			28		0	0	0.009535	0	0
FOXRED2	80020	broad.mit.edu	37	22	36889754	36889754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:36889754G>A	uc003apn.4	-	6	1829	c.1721C>T	c.(1720-1722)cCg>cTg	p.P574L	FOXRED2_uc003apm.4_Missense_Mutation_p.P126L|FOXRED2_uc003apo.4_Missense_Mutation_p.P574L|FOXRED2_uc003app.4_Missense_Mutation_p.P574L	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA.	574					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	p.P574L(2)|p.P574S(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTGCCCGATCGGGGCAGTCCA	0.557000														39			35		0	0	0.003271	0	0
C14orf105	55195	broad.mit.edu	37	14	57960231	57960231	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:57960231C>T	uc010trl.1	-	0	346	c.203G>A	c.(202-204)tGg>tAg	p.W68*	C14orf105_uc001xcy.2_Nonsense_Mutation_p.W68*|C14orf105_uc010trm.1_Splice_Site|C14orf105_uc010trn.1_5'UTR|C14orf105_uc001xcz.2_Nonsense_Mutation_p.W68*|C14orf105_uc010aox.1_Non-coding_Transcript|C14orf105_uc010aoy.2_Splice_Site	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	Homo sapiens chromosome 14 open reading frame 105 (C14orf105), mRNA.	68										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TCTTCCATACCAGTTTTCTTG	0.403000														88			4		0	0	0.009096	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489468	133489468	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:133489468G>A	uc002ttp.3	-	16	5659	c.5285C>T	c.(5284-5286)tCt>tTt	p.S1762F	NCKAP5_uc002ttq.3_Missense_Mutation_p.S443F	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1762							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCTCATGGAAGAAACTGCAGA	0.587000														49			38		0	0	0.007835	0	0
CPEB1	64506	broad.mit.edu	37	15	83226583	83226583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:83226583G>A	uc002bit.3	-	3	850	c.713C>T	c.(712-714)tCt>tTt	p.S238F	CPEB1_uc002bir.3_Missense_Mutation_p.S103F|CPEB1_uc002bis.3_Missense_Mutation_p.S103F|CPEB1_uc010uod.2_Intron|CPEB1_uc002biq.3_Missense_Mutation_p.S103F|CPEB1_uc010uoe.2_Missense_Mutation_p.S181F|CPEB1_uc002biu.3_Missense_Mutation_p.S205F|CPEB1_uc010uof.2_Missense_Mutation_p.S103F|CPEB1_uc002biv.3_Missense_Mutation_p.S178F|CPEB1_uc002bip.3_5'Flank	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	178					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCTAGATCGAGAGTCCAGGAT	0.537000														41			34		0	0	0.012213	0	0
PHYHIPL	84457	broad.mit.edu	37	10	61004923	61004923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:61004923G>A	uc001jkk.4	+	4	969	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	PHYHIPL_uc001jkl.4_Missense_Mutation_p.E189K|PHYHIPL_uc001jkm.4_Missense_Mutation_p.E209K	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein-like (PHYHIPL), transcript variant 1, mRNA.	235								p.E235D(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						CTGCAGCACTGAATTCAATAC	0.428000														19			21		0	0	0.002780	0	0
ANK3	288	broad.mit.edu	37	10	61830575	61830575	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:61830575G>T	uc001jky.3	-	36	10402	c.10064C>A	c.(10063-10065)tCc>tAc	p.S3355Y	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3355					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTCTGGTTGGAAGCCTTTTC	0.383000														55			42		2.24893e-16	2.39409e-16	0.009718	1	0
ADCY8	114	broad.mit.edu	37	8	131916126	131916126	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:131916126G>A	uc003ytd.4	-	6	2059	c.1803C>T	c.(1801-1803)atC>atT	p.I601I	ADCY8_uc010mds.3_Silent_p.I601I	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	601					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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACTCCTTGACGATATCTTCAG	0.483000										HNSCC(32;0.087)				46			30		0	0	0.009535	0	0
INPP5D	3635	broad.mit.edu	37	2	233995348	233995348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:233995348G>A	uc010zmo.2	+	4	808	c.655G>A	c.(655-657)Gag>Aag	p.E219K	INPP5D_uc010zmp.2_Missense_Mutation_p.E218K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	219					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCTCTGCAAGGAGCTCTATGG	0.577000														24			23		0	0	0.003954	0	0
ANO9	338440	broad.mit.edu	37	11	430322	430322	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:430322C>T	uc001lpi.2	-	7	706	c.621G>A	c.(619-621)acG>acA	p.T207T	ANO9_uc001lph.2_5'Flank|ANO9_uc010qvv.1_Silent_p.T63T	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	207						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTAAGAGGCCCGTCAGGGCGG	0.657000														5			14		0	0	0.001855	0	0
ZNF599	148103	broad.mit.edu	37	19	35251394	35251394	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:35251394G>A	uc010edn.1	-	3	700	c.312C>T	c.(310-312)ttC>ttT	p.F104F	ZNF599_uc010edm.2_Silent_p.F67F	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GAAGTTCCTGGAAAGAGGATT	0.438000														27			28		0	0	0.007291	0	0
PROS1	5627	broad.mit.edu	37	3	93605254	93605254	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:93605254C>G	uc003drb.4	-	10	1590	c.1249G>C	c.(1249-1251)Gaa>Caa	p.E417Q	PROS1_uc010hoo.3_Missense_Mutation_p.E286Q|PROS1_uc003dqz.4_Missense_Mutation_p.E286Q	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	417	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	AATCCATTTTCCGGCTTAAAA	0.373000														110			59		0	0	0.014410	0	0
ZNF205	7755	broad.mit.edu	37	16	3168912	3168912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:3168912C>T	uc002cub.3	+	5	626	c.491C>T	c.(490-492)cCc>cTc	p.P164L	ZNF205_uc002cua.3_Missense_Mutation_p.P164L	NM_001042428	NP_003447	O95201	ZN205_HUMAN	Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA.	164	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GCAGGCTTTCCCTTCAGCAGG	0.642000														63			62		0	0	0.014410	0	0
ZNF761	388561	broad.mit.edu	37	19	53959621	53959621	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:53959621C>T	uc010eqp.3	+	6	2318	c.1860C>T	c.(1858-1860)tcC>tcT	p.S620S	ZNF761_uc010ydy.2_Silent_p.S566S|ZNF761_uc002qbt.2_Silent_p.S566S	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGACGTCATCCCTTACATGCC	0.398000														58			29		0	0	0.010818	0	0
GATAD2B	57459	broad.mit.edu	37	1	153800700	153800700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:153800700G>A	uc001fdb.4	-	1	368	c.124C>T	c.(124-126)Cgt>Tgt	p.R42C		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	Homo sapiens GATA zinc finger domain containing 2B (GATAD2B), mRNA.	42						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATTTTCAGACGTTCCATGGCC	0.502000														115			65		0	0	0.014410	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146759	70146759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:70146759G>A	uc003hej.3	+	0	543	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	UGT2B28_uc010ihr.3_Missense_Mutation_p.E181K	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	181					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CTACACAATTGAAAGGCACAG	0.418000														46			45		0	0	0.010771	0	0
CATSPERB	79820	broad.mit.edu	37	14	92055895	92055895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:92055895C>T	uc001xzs.1	-	23	3079	c.2939G>A	c.(2938-2940)aGg>aAg	p.R980K	CATSPERB_uc010aub.1_Missense_Mutation_p.R502K	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	980					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CCAGTTGTGCCTCATGTTCAC	0.368000														30			18		0	0	0.012319	0	0
SCN11A	11280	broad.mit.edu	37	3	38926777	38926778	+	Splice_Site	DNP	AC	TT	TT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:38926777_38926778AC>TT	uc021wvy.1	-	17	3263	c.3064_splice	c.e17+1	p.G1022_splice	SCN11A_uc010hhn.1_Splice_Site_p.G100_splice	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1022					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACTGCCACTTACCTTTGGGCAA	0.411000														15			16		0	0	0.004672	0	0
SVEP1	79987	broad.mit.edu	37	9	113192700	113192700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:113192700G>A	uc010mtz.3	-	32	5721	c.5384C>T	c.(5383-5385)cCg>cTg	p.P1795L	SVEP1_uc010mty.3_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1795	Sushi 7.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCCATTTTCCGGATTTCCTGG	0.423000														17			7		0	0	0.001984	0	0
RBP4	5950	broad.mit.edu	37	10	95360699	95360699	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:95360699G>A	uc001kit.3	-	1	171	c.87C>T	c.(85-87)gtC>gtT	p.V29V		NM_006744	NP_006735	P02753	RET4_HUMAN	Homo sapiens retinol binding protein 4, plasma (RBP4), mRNA.	29					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	AGTTCTCCTTGACTCGGAAGC	0.716000														22			14		0	0	0.002450	0	0
CHD5	26038	broad.mit.edu	37	1	6209357	6209357	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:6209357C>T	uc001amb.2	-	7	1221	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	CHD5_uc001amc.1_5'Flank	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	370					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCTCTGGGTCCAGGCATACGA	0.657000														14			8		0	0	0.003080	0	0
IL1F10	84639	broad.mit.edu	37	2	113832361	113832361	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:113832361G>A	uc002tiu.3	+	3	255	c.180G>A	c.(178-180)ggG>ggA	p.G60G	IL1F10_uc002tiv.3_Silent_p.G60G|IL1F10_uc002tiw.3_Silent_p.G52G	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	60						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						TTTTCCTGGGGATCCAGGGAG	0.582000														47			41		0	0	0.007835	0	0
FAT3	120114	broad.mit.edu	37	11	92523187	92523187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:92523187G>A	uc001pdj.4	+	6	4431	c.4414G>A	c.(4414-4416)Gat>Aat	p.D1472N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1472	Cadherin 14.				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)				AATTTCCGAGGATGTGCTTCC	0.428000										TCGA Ovarian(4;0.039)				225			155		0	0	0.014410	0	0
abParts	0	broad.mit.edu	37	14	106757836	106757836	+	RNA	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:106757836C>T	uc021ser.1	-	749		c.19542G>A								Parts of antibodies, mostly variable regions.																		GCTGACGGATCCAGCTCACAC	0.547000														37			12		0	0	0.013537	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681538	44681538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:44681538C>T	uc003bet.2	-	3	502	c.369G>A	c.(367-369)atG>atA	p.M123I		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	Homo sapiens KIAA1644 (KIAA1644), mRNA.	123						integral to membrane		p.A122T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TGTCGTAGTTCATTGCCGAGT	0.552000														82			64		0	0	0.014410	0	0
ZNF99	7652	broad.mit.edu	37	19	22941701	22941701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:22941701C>T	uc021urt.1	-	3	1165	c.1010G>A	c.(1009-1011)gGa>gAa	p.G337E		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											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)				GGGTTTCTTTCCAGTATGAAT	0.373000														16			14		0	0	0.003163	0	0
OR7E24	26648	broad.mit.edu	37	19	9361804	9361804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:9361804G>A	uc002mlb.1	+	0	85	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						AGGTGTCTCAGAATTCCTCCT	0.502000														14			11		0	0	0.010729	0	0
ATR	545	broad.mit.edu	37	3	142254971	142254971	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:142254971G>A	uc003eux.4	-	19	3920	c.3798C>T	c.(3796-3798)gcC>gcT	p.A1266A		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1266					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCTGGAGAACGGCTTTTATCT	0.289000								Other conserved DNA damage response genes						44			22		0	0	0.012319	0	0
APC	324	broad.mit.edu	37	5	112174607	112174607	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:112174607G>T	uc003kpz.4	+	16	3509	c.3316G>T	c.(3316-3318)Gga>Tga	p.G1106*	APC_uc011cvt.2_Nonsense_Mutation_p.G1088*|APC_uc003kpy.4_Nonsense_Mutation_p.G1106*|APC_uc010jbz.3_Nonsense_Mutation_p.G823*|APC_uc010jca.3_Nonsense_Mutation_p.G406*	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1106	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R1105W(2)|p.G1106*(2)|p.G1106fs*20(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGGTCACGGGGAGCCAATGG	0.393000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				6			18		1.67942e-08	1.76535e-08	0.006122	1	0
MYH13	8735	broad.mit.edu	37	17	10263492	10263492	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:10263492C>T	uc002gmk.1	-	5	609	c.519G>A	c.(517-519)caG>caA	p.Q173Q		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	173	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGAGGATAGACTGGTTGTCTC	0.403000														15			14		0	0	0.001855	0	0
TNFSF4	7292	broad.mit.edu	37	1	173176313	173176313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:173176313C>T	uc001giw.3	-	0	159	c.3G>A	c.(1-3)atG>atA	p.M1I	TNFSF4_uc001giv.3_5'Flank	NM_003326	NP_003317	P23510	TNFL4_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 4 (TNFSF4), mRNA.	1					T-helper 2 cell activation|acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of T-helper 1 cell differentiation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell activation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of alpha-beta T cell proliferation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						GGACCCTTTCCATCTTCACAA	0.473000														46			28		0	0	0.008361	0	0
FAM47B	170062	broad.mit.edu	37	X	34961495	34961495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:34961495C>T	uc004ddi.2	+	0	583	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	183								p.P183P(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGGTAAATATCCCTGTGGGGA	0.642000														5			15		0	0	0.004007	0	0
FAH	2184	broad.mit.edu	37	15	80473403	80473403	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:80473403C>T	uc002bfm.2	+	12	1246	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	FAH_uc002bfn.2_Missense_Mutation_p.S291F|FAH_uc010bln.1_Non-coding_Transcript|FAH_uc010blo.1_Non-coding_Transcript	NM_000137	NP_000128	P16930	FAAA_HUMAN	Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA.	361					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACTTCGGCTCCATGTTGGAA	0.502000									Tyrosinemia, type 1					24			26		0	0	0.007291	0	0
COL19A1	1310	broad.mit.edu	37	6	70897937	70897937	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:70897937C>T	uc003pfc.1	+	46	3132	c.3015C>T	c.(3013-3015)atC>atT	p.I1005I		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	1005	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTCCAGGCATCCCTGGCATTC	0.542000														12			15		0	0	0.003163	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41620754	41620754	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:41620754C>T	uc003azo.3	+	9	1254	c.1200C>T	c.(1198-1200)caC>caT	p.H400H	L3MBTL2_uc010gyi.1_Silent_p.H309H|L3MBTL2_uc003azn.3_Non-coding_Transcript	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA.	400					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGGCCCATCACCCCACCTTCC	0.572000														22			19		0	0	0.002780	0	0
SEC24B	10427	broad.mit.edu	37	4	110451530	110451530	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:110451530C>T	uc003hzk.3	+	18	3217	c.3162C>T	c.(3160-3162)ggC>ggT	p.G1054G	SEC24B_uc003hzl.3_Silent_p.G1019G|SEC24B_uc011cfp.2_Silent_p.G1084G|SEC24B_uc011cfq.2_Silent_p.G1053G|SEC24B_uc011cfr.2_Silent_p.G1018G	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	1054					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	p.T1054T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTGCATATGGCTCAACTGTCT	0.453000														33			31		0	0	0.009535	0	0
GUCY2F	2986	broad.mit.edu	37	X	108641814	108641814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:108641814C>T	uc022cch.1	-	9	2324	c.2239G>A	c.(2239-2241)Ggt>Agt	p.G747S	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.G747S	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	747	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AATGGGGTACCCCGGACCATC	0.537000														4			32		0	0	0.009535	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140782949	140782949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:140782949G>A	uc003lkh.2	+	0	430	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.E144K	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	144	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAATTAACGAAATCGCGGT	0.473000														15			43		0	0	0.007835	0	0
OR9A4	130075	broad.mit.edu	37	7	141619141	141619141	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:141619141C>T	uc003vwu.1	+	0	466	c.466C>T	c.(466-468)Caa>Taa	p.Q156*		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GTTTCTTTTTCAAATCTGGCC	0.413000														88			66		0	0	0.014410	0	0
APBB1IP	54518	broad.mit.edu	37	10	26825083	26825083	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:26825083G>A	uc001iss.3	+	9	1302	c.981G>A	c.(979-981)tgG>tgA	p.W327*	APBB1IP_uc009xks.1_Nonsense_Mutation_p.W327*	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	327	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGAAATCCTGGAAAAGGCGCT	0.363000														86			53		0	0	0.014410	0	0
WNK2	65268	broad.mit.edu	37	9	96080313	96080313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:96080313C>T	uc011lud.1	+	28	6632	c.6632C>T	c.(6631-6633)tCc>tTc	p.S2211F	WNK2_uc004atj.3_Intron|WNK2_uc004atk.3_3'UTR	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	0					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTCCTAGGTTCCTGTGGTCCA	0.597000														41			37		0	0	0.014410	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596928	142596928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:142596928C>T	uc004fbw.3	-	1	230	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	48										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGGATATTCTGATGTTTTT	0.378000														3			40		0	0	0.008740	0	0
ENPP4	22875	broad.mit.edu	37	6	46107658	46107658	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:46107658G>A	uc003oxy.3	+	1	597	c.338G>A	c.(337-339)tGg>tAg	p.W113*		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	113						integral to membrane	hydrolase activity	p.W112S(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CCTTTTTGGTGGAATGAGGCA	0.443000														44			22		0	0	0.012319	0	0
LILRP2	79166	broad.mit.edu	37	19	55220543	55220543	+	RNA	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:55220543G>A	uc002qgs.1	+	0		c.943G>A			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GCCCACCAGAGCCCAGGAACA	0.572000														8			4		0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179469891	179469891	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:179469891T>A	uc021vsy.1	-	228	46534	c.46309A>T	c.(46309-46311)Act>Tct	p.T15437S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T9132S|TTN_uc021vta.1_Missense_Mutation_p.T9065S|TTN_uc021vtb.1_Missense_Mutation_p.T8940S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16364	Fibronectin type-III 12.						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)			TCAATTACAGTTTCATTTTTG	0.468000														23			27		0	0	0.004656	0	0
DDIT3	1649	broad.mit.edu	37	12	57911162	57911162	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:57911162A>C	uc009zpt.3	-	2	365	c.97T>G	c.(97-99)Ttc>Gtc	p.F33V	MARS_uc001sof.1_Non-coding_Transcript|DDIT3_uc001soi.3_Missense_Mutation_p.F10V|DDIT3_uc021qzj.1_Missense_Mutation_p.F10V|DDIT3_uc021qzk.1_Missense_Mutation_p.F33V|DDIT3_uc021qzl.1_Missense_Mutation_p.F33V|DDIT3_uc009zps.3_Missense_Mutation_p.F33V	NM_001195053	NP_001181982	P35638	DDIT3_HUMAN	Homo sapiens DNA-damage-inducible transcript 3 (DDIT3), transcript variant 1, mRNA.	10					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	p.D32Y(1)	EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						AGTGTCCCGAAGGAGAAAGGC	0.527000			T	FUS	liposarcoma									36			22		0	0	0.012319	0	0
SIN3B	23309	broad.mit.edu	37	19	16952673	16952673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:16952673C>T	uc002ney.2	+	3	499	c.476C>T	c.(475-477)tCc>tTc	p.S159F	SIN3B_uc002new.3_Missense_Mutation_p.S159F|SIN3B_uc002nez.2_Missense_Mutation_p.S159F	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	159	PAH 2.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAGTCCGATTCCGTGGAATTC	0.522000														23			27		0	0	0.004656	0	0
STAB2	55576	broad.mit.edu	37	12	103984798	103984798	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:103984798C>T	uc001tjw.3	+	1	391	c.205C>T	c.(205-207)Cga>Tga	p.R69*		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	69					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTAGGGGTTCGAGATTGCAG	0.458000														41			33		0	0	0.004878	0	0
SLC22A25	387601	broad.mit.edu	37	11	62948233	62948233	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:62948233G>A	uc001nwr.1	-	5	969	c.969C>T	c.(967-969)acC>acT	p.T323T	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Silent_p.T323T	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	323					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CTTGCTTCATGGTGGATTTCA	0.398000														20			22		0	0	0.014323	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51995067	51995067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:51995067G>A	uc002pwx.1	-	7	1672	c.1616C>T	c.(1615-1617)tCc>tTc	p.S539F	SIGLEC12_uc002pww.1_Missense_Mutation_p.S421F|SIGLEC12_uc010eoy.1_Missense_Mutation_p.S266F	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	539					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)		ATCTGCCGGGGATTCAATCAG	0.612000														20			25		0	0	0.004656	0	0
NUP210	23225	broad.mit.edu	37	3	13377097	13377097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:13377097G>A	uc003bxv.1	-	27	3783	c.3700C>T	c.(3700-3702)Ccg>Tcg	p.P1234S		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1234					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.P1234S(2)|p.P1234Q(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TACTGTGACGGGAGTCGGATC	0.612000														35			18		0	0	0.008871	0	0
MAP3K14	9020	broad.mit.edu	37	17	43347910	43347910	+	Silent	SNP	A	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:43347910A>G	uc002iiw.1	-	11	1948	c.1839T>C	c.(1837-1839)ccT>ccC	p.P613P	MAP3K14_uc002iiu.1_Silent_p.P144P|MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_Silent_p.P198P	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	614	Interaction with ZFP91.|Protein kinase.				I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	p.P613P(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCTCCCTCACAGGCGGAGGCT	0.622000														22			12		0	0	0.013537	0	0
abParts	0	broad.mit.edu	37	14	106405597	106405597	+	Splice_Site	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:106405597C>T	uc021ser.1	-	3034		c.50196_splice	c.e3034+1							Parts of antibodies, mostly variable regions.																		ACACTGACTTCCCCTCACTGT	0.582000														44			33		0	0	0.003271	0	0
BAI3	577	broad.mit.edu	37	6	70071218	70071218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:70071218G>A	uc010kak.3	+	27	4329	c.4053G>A	c.(4051-4053)atG>atA	p.M1351I	BAI3_uc003pev.4_Missense_Mutation_p.M1351I|BAI3_uc011dxx.2_Missense_Mutation_p.M557I	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1351					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATTCAATATGAATCCCCCTG	0.428000														54			45		0	0	0.014410	0	0
AHNAK	79026	broad.mit.edu	37	11	62303492	62303492	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:62303492G>A	uc001ntl.3	-	2	379	c.79C>T	c.(79-81)Cag>Tag	p.Q27*	AHNAK_uc001ntk.1_Nonsense_Mutation_p.Q27*	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	27	PDZ.				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)				TCGTCCCTCTGGGCGATGGTC	0.642000														23			21		0	0	0.003330	0	0
CYP4F2	8529	broad.mit.edu	37	19	15989695	15989695	+	Silent	SNP	C	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:15989695C>G	uc002nbs.1	-	12	1499	c.1449G>C	c.(1447-1449)gcG>gcC	p.A483A	CYP4F2_uc010xot.1_Silent_p.A334A	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	483					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.A483A(2)|p.A483G(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCAGCGTGAGCGCCAGGACCA	0.682000														41			16		0	0	0.004990	0	0
NDRG1	10397	broad.mit.edu	37	8	134251180	134251180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:134251180G>A	uc003yuh.2	-	15	1712	c.1126C>T	c.(1126-1128)Ccc>Tcc	p.P376S	NDRG1_uc003yue.1_Missense_Mutation_p.P91S|NDRG1_uc003yuf.1_Missense_Mutation_p.P187S|NDRG1_uc003yug.2_Missense_Mutation_p.P376S|NDRG1_uc010mee.2_Missense_Mutation_p.P295S|NDRG1_uc010mef.2_Missense_Mutation_p.P310S|NDRG1_uc011ljh.1_Missense_Mutation_p.P204S|NDRG1_uc011lji.1_Missense_Mutation_p.P123S|NDRG1_uc003yui.1_Intron	NM_001135242	NP_006087	Q92597	NDRG1_HUMAN	Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA.	376					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCCGAGTTGGGGGTGATGTCC	0.711000			T	ERG	prostate									5			4		0	0	0.009096	0	0
CABP2	51475	broad.mit.edu	37	11	67286622	67286622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:67286622C>T	uc001ome.1	-	6	757	c.669G>A	c.(667-669)atG>atA	p.M223I	CABP2_uc001omc.1_Missense_Mutation_p.M217I			Q9NPB3	CABP2_HUMAN	Homo sapiens calcium binding protein 2 (CABP2), mRNA.	217					signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						ACCGAGACATCATTCGCACAA	0.572000														27			18		0	0	0.008871	0	0
MYH15	22989	broad.mit.edu	37	3	108133252	108133252	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:108133252G>A	uc003dxa.1	-	30	4089	c.4032C>T	c.(4030-4032)gcC>gcT	p.A1344A		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1344						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTTCTGCAGGGCATGGGCCA	0.488000														19			16		0	0	0.004007	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153303307	153303307	+	Missense_Mutation	SNP	C	T	T	rs147105602		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:153303307C>T	uc001fbo.3	-	8	1123	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q	PGLYRP4_uc001fbp.3_Missense_Mutation_p.R349Q	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	353	Interaction with murein.				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.R353Q(2)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGACAAGGTTCGGGCCACATC	0.562000														49			43		0	0	0.009718	0	0
abParts	0	broad.mit.edu	37	14	106877887	106877887	+	RNA	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:106877887C>T	uc021ser.1	-	409		c.13038G>A								Parts of antibodies, mostly variable regions.																		CTTCACCAGTCCTGGGCCCGA	0.607000														29			25		0	0	0.004656	0	0
ABCB1	5243	broad.mit.edu	37	7	87168615	87168615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:87168615C>T	uc003uiz.2	-	19	2859	c.2366G>A	c.(2365-2367)cGa>cAa	p.R789Q	ABCB1_uc011khc.2_Missense_Mutation_p.R725Q	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	789	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R789*(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AACCATGTATCGGAGCCGCTT	0.522000														39			45		0	0	0.014410	0	0
NFKB1	4790	broad.mit.edu	37	4	103537644	103537644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:103537644C>T	uc011ceq.2	+	23	3267	c.2800C>T	c.(2800-2802)Cgc>Tgc	p.R934C	NFKB1_uc011cep.2_Missense_Mutation_p.R935C|NFKB1_uc011cer.2_Missense_Mutation_p.R754C	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	934	Interaction with CFLAR.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	I-kappaB/NF-kappaB complex|cytosol|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GACATCCTTCCGCAAACTCAG	0.542000														63			46		0	0	0.014410	0	0
OTUD7A	161725	broad.mit.edu	37	15	31779660	31779660	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:31779660C>T	uc001zfq.3	-	8	1353	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L	OTUD7A_uc001zfr.3_Silent_p.L427L	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	420	Catalytic (By similarity).					cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|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)		CTTACTGGGCCAGCCGGGCGT	0.622000														12			4		0	0	0.009096	0	0
MAMDC2	256691	broad.mit.edu	37	9	72785459	72785459	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:72785459G>A	uc004ahm.2	+	10	2180	c.1563G>A	c.(1561-1563)gaG>gaA	p.E521E	MAMDC2_uc004ahn.2_Non-coding_Transcript|LOC100507244_uc004aho.1_Intron|LOC100507244_uc004ahp.1_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	521	MAM 4.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTACTCAGGAGAAAAGAAACC	0.488000														39			24		0	0	0.005443	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74621517	74621517	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:74621517G>A	uc002jsh.3	-	8	1872	c.1698C>T	c.(1696-1698)aaC>aaT	p.N566N	ST6GALNAC1_uc002jsi.3_Silent_p.N434N|ST6GALNAC1_uc002jsj.3_Non-coding_Transcript	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA.	566					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TGAAGTCATGGTTTATGTAAA	0.493000														34			23		0	0	0.003330	0	0
PRIM2	5558	broad.mit.edu	37	6	57246869	57246869	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:57246869A>C	uc003pdx.3	+	6	683	c.596A>C	c.(595-597)aAa>aCa	p.K199T	PRIM2_uc003pdw.3_Missense_Mutation_p.K199T	NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	199					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition 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|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CGAGGAAGGAAAGTCTATTTG	0.408000														45			12		0	0	0.013537	0	0
CTNNA1	1495	broad.mit.edu	37	5	138260979	138260979	+	Silent	SNP	C	T	T	rs142503438	byFrequency	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:138260979C>T	uc003ldh.3	+	12	1877	c.1782C>T	c.(1780-1782)gcC>gcT	p.A594A	CTNNA1_uc011cyx.2_Silent_p.A491A|CTNNA1_uc011cyy.2_Silent_p.A471A|CTNNA1_uc003ldi.3_Silent_p.A292A|CTNNA1_uc003ldj.3_Silent_p.A594A|CTNNA1_uc003ldl.3_Silent_p.A224A	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	594					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	p.A594V(1)		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)			TAGAAGCAGCCGTGGAAGCCC	0.557000														4			28		0	0	0.007291	0	0
RFX6	222546	broad.mit.edu	37	6	117248364	117248364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:117248364C>T	uc003pxm.3	+	16	2123	c.2060C>T	c.(2059-2061)cCc>cTc	p.P687L		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	687					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.P687L(2)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCCATTTATCCCACTCTCCCT	0.522000														49			34		0	0	0.003271	0	0
EGFR	1956	broad.mit.edu	37	7	55211097	55211097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:55211097G>A	uc003tqk.3	+	2	586	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	EGFR_uc003tqh.3_Missense_Mutation_p.E114K|EGFR_uc003tqi.3_Missense_Mutation_p.E114K|EGFR_uc003tqj.3_Missense_Mutation_p.E114K|EGFR_uc022adm.1_Missense_Mutation_p.E114K|EGFR_uc010kzg.2_Missense_Mutation_p.E114K|EGFR_uc022adn.1_Missense_Mutation_p.E114K|EGFR_uc011kco.2_Missense_Mutation_p.E61K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	114					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 MAP kinase activity|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 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 UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.E114K(3)		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)	TATGTACTACGAAAATTCCTA	0.458000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				51			27		0	0	0.005443	0	0
ALB	213	broad.mit.edu	37	4	74276095	74276095	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:74276095C>A	uc003hgs.4	+	5	755	c.682C>A	c.(682-684)Caa>Aaa	p.Q228K	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Missense_Mutation_p.Q118K	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	228	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGCCAGTCTCCAAAAATTTGG	0.363000														43			31		2.49534e-26	2.67832e-26	0.010818	1	0
LRIG1	26018	broad.mit.edu	37	3	66432709	66432709	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:66432709T>A	uc003dmx.3	-	15	2619	c.2605A>T	c.(2605-2607)Att>Ttt	p.I869F	SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Missense_Mutation_p.I489F|LRIG1_uc003dmw.3_Missense_Mutation_p.I535F|LRIG1_uc010hnz.3_Missense_Mutation_p.I585F|LRIG1_uc010hoa.3_Missense_Mutation_p.I846F	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	869						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TTGCTCTCAATGTGCCCATTG	0.572000														60			43		0	0	0.011902	0	0
ALDH3B2	222	broad.mit.edu	37	11	67430692	67430692	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:67430692G>A	uc001omr.3	-	9	1591	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	ALDH3B2_uc001oms.3_Silent_p.L384L	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	384					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	ACGCTCACAGGAGGGTGCAGC	0.587000														86			71		0	0	0.014410	0	0
SLC38A9	153129	broad.mit.edu	37	5	54993677	54993677	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:54993677T>A	uc003jqf.2	-	2	702	c.110A>T	c.(109-111)aAa>aTa	p.K37I	SLC38A9_uc010ivy.2_5'UTR	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	Homo sapiens solute carrier family 38, member 9 (SLC38A9), mRNA.	37					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TGCTTACCTTTTGGATCTTAG	0.313000														4			20		0	0	0.012319	0	0
OR2A7	401427	broad.mit.edu	37	7	143956032	143956032	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:143956032C>T	uc011kuc.2	-	0	690	c.690G>A	c.(688-690)agG>agA	p.R230R	OR2A9P_uc003wec.1_Intron|OR2A9P_uc003wed.3_5'Flank	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					TCTGAACTTCCCTTGATTGGA	0.478000														77			42		0	0	0.014410	0	0
MYO1A	4640	broad.mit.edu	37	12	57424938	57424938	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:57424938C>T	uc001smw.4	-	22	2610	c.2370G>A	c.(2368-2370)ggG>ggA	p.G790G	MYO1A_uc010sqz.2_Silent_p.G628G|MYO1A_uc009zpd.3_Silent_p.G790G	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	790					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGTTCTTCAGCCCCAGTAGGA	0.527000														57			35		0	0	0.004289	0	0
RALY	22913	broad.mit.edu	37	20	32661652	32661653	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:32661652_32661653CC>TT	uc002xab.3	+	4	929_930	c.357_358CC>TT	c.(355-360)taccgg>taTTgg	p.R120W	RALY_uc010zui.2_Missense_Mutation_p.R120W|RALY_uc002xac.3_Intron	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	Homo sapiens RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse)) (RALY), transcript variant 1, mRNA.	120						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	RNA binding|nucleotide binding			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						ATGATTACTACCGGGACGACTT	0.574000														32			23		0	0	0.004672	0	0
OR6C1	390321	broad.mit.edu	37	12	55714467	55714467	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:55714467C>T	uc010spi.2	+	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TCTTTGTCTTCCTGCTCATCA	0.423000														34			21		0	0	0.002780	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590315	140590315	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:140590315C>T	uc003liz.3	+	0	2025	c.1836C>T	c.(1834-1836)ccC>ccT	p.P612P	PCDHB12_uc011dak.2_Silent_p.P275P	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	612	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P612P(4)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACGGAGCCCGGGCTATTCG	0.701000														44			47		0	0	0.014410	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871597	51871598	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:51871597_51871598GG>AA	uc002xwo.3	+	1	2487_2488	c.1600_1601GG>AA	c.(1600-1602)ggg>AAg	p.G534K	TSHZ2_uc021wex.1_Missense_Mutation_p.G531K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	534					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCCCAAAACGGGGCCCCCAGC	0.554000														38			31		0	0	0.004672	0	0
FPR1	2357	broad.mit.edu	37	19	52249604	52249604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:52249604G>A	uc021uyn.1	-	2	790	c.644C>T	c.(643-645)tCc>tTc	p.S215F	FPR1_uc002pxq.3_Missense_Mutation_p.S215F|FPR1_uc021uyo.1_Missense_Mutation_p.S215F	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	215					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	AGCAACGATGGACATGGGTGC	0.527000														47			28		0	0	0.013726	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342311	60342311	+	RNA	SNP	G	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:60342311G>T	uc010woz.2	-	13		c.1818C>A								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						AAAACGAGGAGGCGAAGCTTG	0.458000														88			7		5.4927e-09	5.77894e-09	0.004482	1	0
SNED1	25992	broad.mit.edu	37	2	242002212	242002212	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:242002212C>T	uc002wah.1	+	16	2262	c.2262C>T	c.(2260-2262)atC>atT	p.I754I	SNED1_uc002wai.1_5'Flank|SNED1_uc002waj.1_5'Flank|SNED1_uc002wak.3_5'Flank	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	754	EGF-like 11; calcium-binding (Potential).				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCTCAGAAATCGATGAGTGCC	0.547000														7			11		0	0	0.010729	0	0
SIK3	23387	broad.mit.edu	37	11	116744293	116744293	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:116744293G>A	uc001ppy.3	-	12	1503	c.1467C>T	c.(1465-1467)ggC>ggT	p.G489G	SIK3_uc001ppz.3_Silent_p.G388G|SIK3_uc001pqa.3_Silent_p.G441G	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	489				LGR -> MGL (in Ref. 4; AAH63887).		cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATGCCCTCCGGCCAAGGGGGC	0.617000														321			222		0	0	0.014410	0	0
XDH	7498	broad.mit.edu	37	2	31572901	31572901	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:31572901C>T	uc002rnv.1	-	24	2899	c.2820G>A	c.(2818-2820)gaG>gaA	p.E940E		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	940					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)	AGCTTACCTCCTCTGCAGGCA	0.577000														86			59		0	0	0.014410	0	0
HTT	3064	broad.mit.edu	37	4	3189493	3189493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:3189493C>T	uc021xkv.1	+	38	5250	c.5105C>T	c.(5104-5106)tCt>tTt	p.S1702F		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1702					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTCTCCTTCTCTCCGTATTTA	0.398000														56			55		0	0	0.014410	0	0
RP1	6101	broad.mit.edu	37	8	55542301	55542301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:55542301G>A	uc003xsd.1	+	3	6007	c.5859G>A	c.(5857-5859)atG>atA	p.M1953I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1953					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)			ATTTATGGATGAAAATACACC	0.333000														13			13		0	0	0.001855	0	0
COL5A1	1289	broad.mit.edu	37	9	137702118	137702118	+	Silent	SNP	G	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:137702118G>T	uc004cfe.3	+	43	3874	c.3492G>T	c.(3490-3492)ccG>ccT	p.P1164P		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1164	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCGGGGAGCCGGGGCAGAAAG	0.592000														55			47		5.57489e-27	5.99467e-27	0.014410	1	0
FBN2	2201	broad.mit.edu	37	5	127863635	127863635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:127863635C>T	uc003kuu.3	-	3	901	c.462G>A	c.(460-462)atG>atA	p.M154I	FBN2_uc003kuv.2_Missense_Mutation_p.M121I|FBN2_uc003kuw.4_Missense_Mutation_p.M154I	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	154	EGF-like 2.				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)		TCCCACCATTCATGCATCTCA	0.368000														8			22		0	0	0.004656	0	0
UHMK1	127933	broad.mit.edu	37	1	162487890	162487890	+	Splice_Site	SNP	A	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:162487890A>G	uc001gcc.2	+	7	1221	c.1025_splice	c.e7-2	p.D342_splice	UHMK1_uc001gcd.3_Splice_Site_p.D268_splice|UHMK1_uc009wuu.2_Intron	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	Homo sapiens U2AF homology motif (UHM) kinase 1 (UHMK1), transcript variant 1, mRNA.	342	RRM.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	RNA binding|protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TTTAATAATCAGATGTTGTAG	0.308000														17			14		0	0	0.003163	0	0
IL17RE	132014	broad.mit.edu	37	3	9945733	9945733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:9945733C>T	uc003btu.3	+	3	290	c.286C>T	c.(286-288)Cct>Tct	p.P96S	CIDEC_uc003bto.3_Intron|IL17RE_uc003btv.3_Missense_Mutation_p.P56S|IL17RE_uc011atn.1_Intron|IL17RE_uc003bty.3_Non-coding_Transcript|IL17RE_uc003btx.3_Intron|IL17RE_uc010hcq.3_Missense_Mutation_p.P56S|IL17RE_uc003btw.3_Missense_Mutation_p.P56S	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	Homo sapiens interleukin 17 receptor E (IL17RE), transcript variant 5, mRNA.	56						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TGCCTATATCCCTTGCCGCAC	0.547000														146			94		0	0	0.014410	0	0
MON1B	22879	broad.mit.edu	37	16	77232202	77232202	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:77232202C>T	uc002fez.3	+	5	1971	c.1641C>T	c.(1639-1641)ctC>ctT	p.L547L	MON1B_uc010vnf.2_Silent_p.L438L|MON1B_uc010vng.2_Silent_p.L401L|MON1B_uc002ffa.3_Silent_p.L427L|SYCE1L_uc010vnh.1_5'Flank	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA.	547							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TCACTGGACTCTGATAGTTGG	0.542000														49			38		0	0	0.003755	0	0
ANKS1B	56899	broad.mit.edu	37	12	99548138	99548138	+	Silent	SNP	A	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:99548138A>G	uc001tge.2	-	14	2872	c.2455T>C	c.(2455-2457)Ttg>Ctg	p.L819L	ANKS1B_uc001tgf.2_Silent_p.L395L|ANKS1B_uc001tgk.3_Silent_p.L116L|ANKS1B_uc001tgd.2_Silent_p.L45L|ANKS1B_uc009ztr.3_Silent_p.L45L|ANKS1B_uc001tgj.3_Silent_p.L45L|ANKS1B_uc001tgi.3_Silent_p.L45L|ANKS1B_uc009zts.2_Silent_p.L45L|ANKS1B_uc001tgg.4_5'UTR|ANKS1B_uc010svg.2_Silent_p.L14L	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	819	SAM 1.					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)		ATGCTTTCCAACCATTGTCCC	0.512000														34			25		0	0	0.003330	0	0
EIF4G1	1981	broad.mit.edu	37	3	184040702	184040702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:184040702C>T	uc003fnp.3	+	12	2160	c.1889C>T	c.(1888-1890)cCa>cTa	p.P630L	EIF4G1_uc003fno.2_Missense_Mutation_p.P571L|EIF4G1_uc010hxw.2_Missense_Mutation_p.P466L|EIF4G1_uc010hxx.3_Missense_Mutation_p.P637L|EIF4G1_uc003fnt.3_Missense_Mutation_p.P341L|EIF4G1_uc010hxy.3_Missense_Mutation_p.P637L|EIF4G1_uc003fnq.3_Missense_Mutation_p.P543L|EIF4G1_uc003fnr.3_Missense_Mutation_p.P466L|EIF4G1_uc003fns.3_Missense_Mutation_p.P590L|EIF4G1_uc003fnv.4_Missense_Mutation_p.P630L|EIF4G1_uc003fnw.3_Missense_Mutation_p.P637L|EIF4G1_uc003fnx.3_Missense_Mutation_p.P434L|SNORD66_uc003fnz.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	630	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGCAGAAGCCAGAGGGATTG	0.502000														108			83		0	0	0.014410	0	0
FAM22G	441457	broad.mit.edu	37	9	99700235	99700235	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:99700235G>A	uc022bkp.1	+	5	1413	c.1392G>A	c.(1390-1392)ttG>ttA	p.L464L	FAM22G_uc004awq.2_Silent_p.L464L	NM_001170741	NP_001164212	Q5VZR2	FA22G_HUMAN	Homo sapiens family with sequence similarity 22, member G (FAM22G), transcript variant 2, mRNA.	464								p.F463L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(5)|skin(2)|stomach(1)	17		Acute lymphoblastic leukemia(62;0.0527)				TGGATTTCTTGGCCCTAAGCC	0.582000														83			52		0	0	0.014410	0	0
OR51G1	79324	broad.mit.edu	37	11	4944768	4944768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:4944768C>T	uc010qyr.2	-	0	802	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	268					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)		GGCAGATGTTCACCAAAGCGA	0.502000														54			42		0	0	0.008740	0	0
MUC16	94025	broad.mit.edu	37	19	9064001	9064001	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:9064001G>A	uc002mkp.3	-	2	23649	c.23445C>T	c.(23443-23445)ttC>ttT	p.F7815F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7817	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						TAGTCTCAAGGAAGGCAGGAG	0.527000														58			50		0	0	0.014410	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45719416	45719417	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:45719416_45719417GG>AA	uc002pay.1	-	8	896_897	c.855_856CC>TT	c.(853-858)ccccat>ccTTat	p.H286Y		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	286										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		TCAGCCAAATGGGGCACCACGG	0.644000														27			19		0	0	0.004672	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55363668	55363668	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:55363668C>T	uc002qho.4	+	2	319	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc002qhn.1_Intron|KIR3DL2_uc010esh.3_Missense_Mutation_p.R96W	NM_006737	NP_006728	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 (KIR3DL2), transcript variant 1, mRNA.	96	Ig-like C2-type 1.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.R96W(2)|p.R96Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTACAGATGTCGGGGTTCACG	0.582000														57			34		0	0	0.014410	0	0
NEDD9	4739	broad.mit.edu	37	6	11213690	11213690	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:11213690G>T	uc003mzv.2	-	1	450	c.283C>A	c.(283-285)Cca>Aca	p.P95T	NEDD9_uc010joz.2_Missense_Mutation_p.P95T|NEDD9_uc003mzw.3_5'UTR|NEDD9_uc003mzx.3_Missense_Mutation_p.P95T	NM_006403	NP_006394	Q14511	CASL_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 9 (NEDD9), transcript variant 1, mRNA.	95					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	Golgi apparatus|cell cortex|focal adhesion|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGTGGGTTTGGCACTTGATAG	0.562000														103			68		1.2582e-26	1.3517e-26	0.014410	1	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180696	142180696	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:142180696G>A	uc011krz.2	-	1	212	c.163C>T	c.(163-165)Cga>Tga	p.R55*	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Nonsense_Mutation_p.R55*|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GGGTCTTGTCGATACCAGGAC	0.507000														245			56		0	0	0.014410	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118368581	118368581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:118368581G>A	uc001lco.1	+	12	1375	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.E453K	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	453	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CTTCTGTAGCGAAGACACAGT	0.507000														42			24		0	0	0.004656	0	0
SLC44A5	204962	broad.mit.edu	37	1	75707698	75707698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:75707698G>A	uc010oqz.1	-	7	703	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	SLC44A5_uc001dgt.2_Missense_Mutation_p.P174S|SLC44A5_uc001dgs.2_Missense_Mutation_p.P132S|SLC44A5_uc001dgr.2_Missense_Mutation_p.P132S|SLC44A5_uc001dgu.3_Missense_Mutation_p.P174S|SLC44A5_uc010ora.2_Missense_Mutation_p.P168S|SLC44A5_uc010orb.2_Missense_Mutation_p.P44S	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	174						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GGTTTGCTGGGAAAAATCGCT	0.363000														49			24		0	0	0.007291	0	0
COBL	23242	broad.mit.edu	37	7	51096201	51096202	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:51096201_51096202GG>AA	uc003tps.3	-	10	2947_2948	c.2762_2763CC>TT	c.(2761-2763)tcc>tTT	p.S921F	COBL_uc003tpr.4_Missense_Mutation_p.S864F|COBL_uc011kcl.2_Missense_Mutation_p.S864F|COBL_uc003tpp.4_Missense_Mutation_p.S650F|COBL_uc003tpq.4_Missense_Mutation_p.S805F|COBL_uc003tpo.4_Missense_Mutation_p.S406F	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	864										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CATACTGGCTGGACGTTCTTCT	0.574000														70			44		0	0	0.004672	0	0
BCL11B	64919	broad.mit.edu	37	14	99641844	99641844	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:99641844G>A	uc001yga.3	-	3	1596	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	BCL11B_uc001ygb.3_Silent_p.I372I	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	443						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCCGGTGCACGATGAGATTGC	0.662000			T	TLX3	T-ALL									29			20		0	0	0.007413	0	0
MTUS2	23281	broad.mit.edu	37	13	29600557	29600557	+	Silent	SNP	T	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:29600557T>A	uc001usl.4	+	0	1810	c.1752T>A	c.(1750-1752)ccT>ccA	p.P584P		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	574						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTCCACCCCCTACTGATAGTG	0.537000														54			33		0	0	0.012213	0	0
DPP10	57628	broad.mit.edu	37	2	116535372	116535372	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:116535372G>A	uc002tle.3	+	14	1356	c.1335G>A	c.(1333-1335)ctG>ctA	p.L445L	DPP10_uc002tla.2_Silent_p.L441L|DPP10_uc002tlb.2_Silent_p.L391L|DPP10_uc002tlc.2_Silent_p.L437L|DPP10_uc002tlf.2_Silent_p.L434L	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	441					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GTTACTTTCTGAGCACTGAAT	0.408000														32			25		0	0	0.005443	0	0
ZHX1	11244	broad.mit.edu	37	8	124266466	124266466	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:124266466T>C	uc003yqe.3	-	2	2331	c.1721A>G	c.(1720-1722)gAg>gGg	p.E574G	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Missense_Mutation_p.E574G|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Missense_Mutation_p.E574G|ZHX1_uc022bak.1_Missense_Mutation_p.E574G	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	574					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGCAGTTTTCTCTTTAAACTT	0.433000														39			32		0	0	0.012213	0	0
BMP15	9210	broad.mit.edu	37	X	50659043	50659043	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:50659043C>T	uc011mnw.2	+	1	664	c.615C>T	c.(613-615)ctC>ctT	p.L205L		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	205					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	p.R204*(2)|p.L205H(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TCCTACGACTCCGTTTTATGT	0.433000														3			41		0	0	0.007835	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806595	33806595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:33806595C>T	uc002hjn.3	-	2	1435	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	SLFN12L_uc021tuy.1_Missense_Mutation_p.E212K	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	244						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						GTCAATTTTTCTTTATAACCA	0.358000														13			6		0	0	0.001168	0	0
ASPA	443	broad.mit.edu	37	17	3397703	3397703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:3397703C>T	uc010ckg.3	+	5	785	c.694C>T	c.(694-696)Ccc>Tcc	p.P232S	SPATA22_uc010vrg.2_Intron|ASPA_uc002fvq.3_Missense_Mutation_p.P232S	NM_001128085	NP_001121557	P45381	ACY2_HUMAN	Homo sapiens aspartoacylase (ASPA), transcript variant 2, mRNA.	232					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	AGTTGATTACCCCCGGGATGA	0.338000														114			85		0	0	0.014410	0	0
DBX2	440097	broad.mit.edu	37	12	45410265	45410265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:45410265G>A	uc001rok.1	-	3	996	c.824C>T	c.(823-825)cCa>cTa	p.P275L		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	275						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		TGAAGGACATGGAGAAGGGAA	0.493000														56			41		0	0	0.009718	0	0
HSPA6	3310	broad.mit.edu	37	1	161496150	161496150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:161496150G>A	uc001gaq.3	+	0	2115	c.1702G>A	c.(1702-1704)Gac>Aac	p.D568N	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	568					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCCCGAAGAGGACAGGCGCAA	0.537000														8			7		0	0	0.001984	0	0
IL4R	3566	broad.mit.edu	37	16	27374340	27374340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:27374340G>A	uc002don.3	+	10	1909	c.1667G>A	c.(1666-1668)cGa>cAa	p.R556Q	IL4R_uc002dop.4_Missense_Mutation_p.R541Q|IL4R_uc010bxy.3_Missense_Mutation_p.R556Q|IL4R_uc002doo.3_Missense_Mutation_p.R396Q	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	556	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						ATCCTCCGCCGAAATGTCCTC	0.637000														17			21		0	0	0.010504	0	0
THEMIS	387357	broad.mit.edu	37	6	128134831	128134831	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:128134831A>C	uc011ebt.2	-	3	1104	c.955T>G	c.(955-957)Tta>Gta	p.L319V	THEMIS_uc010kfa.3_Missense_Mutation_p.L222V|THEMIS_uc021zfa.1_Missense_Mutation_p.L319V|THEMIS_uc010kfb.3_Missense_Mutation_p.L284V	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	319	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	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						TCTGAAGCTAAGATTCTTGAT	0.453000														44			40		0	0	0.005524	0	0
VCAN	1462	broad.mit.edu	37	5	82835116	82835116	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:82835116G>A	uc003kii.3	+	7	6650	c.6294G>A	c.(6292-6294)tgG>tgA	p.W2098*	VCAN_uc003kij.3_Nonsense_Mutation_p.W1111*|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Nonsense_Mutation_p.W762*	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2098	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCAAATTATGGTCTAGGCAAG	0.403000														6			28		0	0	0.008361	0	0
SF3B14	51639	broad.mit.edu	37	2	24290698	24290698	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:24290698C>T	uc002rev.3	-	3	527	c.312G>A	c.(310-312)aaG>aaA	p.K104K	SF3B14_uc010eyb.3_Non-coding_Transcript	NM_016047	NP_057131	Q9Y3B4	PM14_HUMAN	Homo sapiens splicing factor 3B, 14 kDa subunit (SF3B14), mRNA.	104					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCCTTCTTCTTTGTGTCCA	0.353000														60			48		0	0	0.014410	0	0
HLA-F	3134	broad.mit.edu	37	6	29691462	29691462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:29691462C>T	uc003nno.4	+	1	216	c.92C>T	c.(91-93)aCc>aTc	p.T31I	HLA-F_uc010jrl.3_Missense_Mutation_p.T31I|HLA-F_uc003nnm.4_Missense_Mutation_p.T31I|HLA-F_uc011dlx.1_Missense_Mutation_p.T31I|HLA-F_uc011dly.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	31	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TATTTCAGCACCGCTGTGTCG	0.701000														3			22		0	0	0.007291	0	0
PARP15	165631	broad.mit.edu	37	3	122351038	122351038	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:122351038G>A	uc003efm.2	+	9	1610	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	PARP15_uc003efn.2_Missense_Mutation_p.R320Q|PARP15_uc003efo.1_Missense_Mutation_p.R262Q|PARP15_uc003efp.1_Missense_Mutation_p.R281Q|PARP15_uc011bjt.1_Missense_Mutation_p.R212Q	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	493	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	p.R515Q(1)|p.R281Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AAGTTCACCCGAACTTGTTCT	0.358000														26			21		0	0	0.002780	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451535	38451535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:38451535C>T	uc003jlc.2	+	19	3032	c.2686C>T	c.(2686-2688)Ctt>Ttt	p.L896F	EGFLAM_uc003jlb.2_Missense_Mutation_p.L888F|EGFLAM_uc003jle.2_Missense_Mutation_p.L654F|EGFLAM_uc003jlf.2_Missense_Mutation_p.L254F|EGFLAM_uc003jlg.2_Missense_Mutation_p.L31F	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	896	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTCCTTGGGCCTTCGGGATGG	0.517000														10			49		0	0	0.014410	0	0
GLRA3	8001	broad.mit.edu	37	4	175603979	175603979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:175603979C>T	uc003ity.1	-	5	1189	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	GLRA3_uc003itz.1_Missense_Mutation_p.R229Q	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	229					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.R229P(2)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	AGTGCAGTATCGTAAATCTTT	0.373000														19			24		0	0	0.004656	0	0
DGCR14	8220	broad.mit.edu	37	22	19121953	19121953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:19121953G>A	uc002zou.3	-	9	1224	c.1187C>T	c.(1186-1188)cCa>cTa	p.P396L		NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA.	396					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					CTGTAGGGCTGGCGACATGGC	0.672000														41			22		0	0	0.012319	0	0
DNAH12	201625	broad.mit.edu	37	3	57488120	57488120	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:57488120C>T	uc003dit.2	-	9	1354	c.1173G>A	c.(1171-1173)tgG>tgA	p.W391*	DNAH12_uc003diu.2_Nonsense_Mutation_p.W391*	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	391	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TATCAACAGCCCAGTGTAACA	0.393000														41			21		0	0	0.010504	0	0
ZNF498	221785	broad.mit.edu	37	7	99217233	99217233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:99217233C>T	uc003url.1	+	3	331	c.4C>T	c.(4-6)Ctt>Ttt	p.L2F	ZNF498_uc003urm.1_5'UTR|ZNF498_uc010lge.1_5'UTR|ZNF498_uc003urn.3_Non-coding_Transcript|ZNF498_uc010lgf.1_Missense_Mutation_p.L2F|ZNF498_uc003uro.1_5'Flank	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	Homo sapiens zinc finger protein 498 (ZNF498), mRNA.	2					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(1)	24	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					TCTGAAGATGCTTAAAGAGCA	0.512000														79			48		0	0	0.013114	0	0
PCLO	27445	broad.mit.edu	37	7	82785026	82785026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:82785026G>A	uc003uhx.2	-	1	1220	c.931C>T	c.(931-933)Cct>Tct	p.P311S	PCLO_uc003uhv.2_Missense_Mutation_p.P311S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	301	Gln-rich.|Pro-rich.				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						GGTTTTCCAGGAGTTGGTTGC	0.532000														22			28		0	0	0.007291	0	0
OR13D1	286365	broad.mit.edu	37	9	107457324	107457324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:107457324C>T	uc011lvs.2	+	0	622	c.622C>T	c.(622-624)Cat>Tat	p.H208Y		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TGTCATTGATCATATTACCTG	0.398000														47			31		0	0	0.003271	0	0
HDAC3	8841	broad.mit.edu	37	5	141004874	141004874	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:141004874G>A	uc003llf.2	-	13	1184	c.1118C>T	c.(1117-1119)cCt>cTt	p.P373L	HDAC3_uc003lle.1_Missense_Mutation_p.P316L	NM_003883	NP_003874	O15379	HDAC3_HUMAN	Homo sapiens histone deacetylase 3 (HDAC3), mRNA.	373					anti-apoptosis|cellular lipid metabolic process|negative regulation of JNK cascade|negative regulation of cell cycle|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CTGGACACTAGGTGCATGGTT	0.502000														20			91		0	0	0.014410	0	0
CPNE9	151835	broad.mit.edu	37	3	9771260	9771260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:9771260G>A	uc021wst.1	+	20	1717	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	CPNE9_uc003bsd.3_Missense_Mutation_p.D515N|BRPF1_uc003bse.3_5'Flank|BRPF1_uc003bsf.3_5'Flank|BRPF1_uc003bsg.3_5'Flank|BRPF1_uc011ati.2_5'Flank	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	516										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					ACTGGCCAAGGATGTGCTGGC	0.622000														35			34		0	0	0.003755	0	0
DTX1	1840	broad.mit.edu	37	12	113515335	113515335	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:113515335T>G	uc001tuk.1	+	1	702	c.366T>G	c.(364-366)gaT>gaG	p.D122E		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	122	WWE 2.				Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGGCCTACGATATGGACATCT	0.622000														57			4		0	0	0.003080	0	0
DPYSL5	56896	broad.mit.edu	37	2	27157581	27157581	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:27157581A>C	uc002rhu.4	+	7	1084	c.926A>C	c.(925-927)tAc>tCc	p.Y309S	DPYSL5_uc002rhv.4_Missense_Mutation_p.Y309S|DPYSL5_uc021vev.1_Missense_Mutation_p.Y309S	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	309					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTCAACCTACCTCATGAGC	0.557000														155			97		0	0	0.014410	0	0
LRIG1	26018	broad.mit.edu	37	3	66433778	66433779	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:66433778_66433779CC>TT	uc003dmx.3	-	14	2132_2133	c.2118_2119GG>AA	c.(2116-2121)gtggga>gtAAga	p.G707R	SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Missense_Mutation_p.G327R|LRIG1_uc003dmw.3_Missense_Mutation_p.G373R|LRIG1_uc010hnz.3_Missense_Mutation_p.G423R|LRIG1_uc010hoa.3_Missense_Mutation_p.G684R	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	707	Ig-like C2-type 3.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACTGTTTCTCCCACAGATACCA	0.604000														52			35		0	0	0.004672	0	0
CLIC5	53405	broad.mit.edu	37	6	45882144	45882144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:45882144G>A	uc003oxv.3	-	4	992	c.886C>T	c.(886-888)Ctt>Ttt	p.L296F	CLIC5_uc003oxu.3_Missense_Mutation_p.L137F|CLIC5_uc003oxw.3_Non-coding_Transcript|CLIC5_uc003oxx.3_Missense_Mutation_p.L137F	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	296	GST C-terminal.				female pregnancy	Golgi apparatus|actin cytoskeleton|cell cortex|chloride channel complex|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CCTCTTTCAAGAGCTGGCATG	0.473000														30			35		0	0	0.003755	0	0
EPHB1	2047	broad.mit.edu	37	3	134670370	134670370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:134670370G>A	uc003eqt.3	+	2	656	c.281G>A	c.(280-282)aGa>aAa	p.R94K	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Missense_Mutation_p.R94K	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	94						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTCACTGTGAGAGACTGCAGC	0.532000														9			11		0	0	0.010729	0	0
OR4X1	390113	broad.mit.edu	37	11	48286276	48286276	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:48286276G>A	uc010rht.2	+	0	864	c.864G>A	c.(862-864)agG>agA	p.R288R		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						ACTCCTTCAGGAATGCTGAAG	0.408000														41			26		0	0	0.003954	0	0
NWD1	284434	broad.mit.edu	37	19	16908590	16908590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:16908590C>T	uc002neu.4	+	15	3774	c.3352C>T	c.(3352-3354)Cgc>Tgc	p.R1118C	NWD1_uc002net.4_Missense_Mutation_p.R983C|NWD1_uc002nev.4_Missense_Mutation_p.R912C|NWD1_uc021uqg.1_Missense_Mutation_p.R983C	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1118							ATP binding	p.R983C(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGGGGCTTTCGCCGATTCAT	0.537000														120			104		0	0	0.014410	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120310856	120310856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:120310856G>A	uc001pxl.2	+	12	1353	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	ARHGEF12_uc009zat.3_Missense_Mutation_p.G321R|ARHGEF12_uc010rzn.1_Missense_Mutation_p.G237R|ARHGEF12_uc009zau.1_Missense_Mutation_p.G237R|ARHGEF12_uc021qrm.1_Missense_Mutation_p.G321R	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	340					G-protein coupled receptor protein signaling pathway|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	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATCACTTGTCGGAAGTCCCTC	0.373000			T	MLL	AML									59			39		0	0	0.009718	0	0
FAT2	2196	broad.mit.edu	37	5	150922489	150922489	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:150922489C>T	uc003lue.4	-	8	8212	c.8199G>A	c.(8197-8199)gaG>gaA	p.E2733E		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2733	Cadherin 24.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.P2732A(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTTGTTGCTCTCAGGTGTAG	0.507000														8			42		0	0	0.014410	0	0
RPTN	126638	broad.mit.edu	37	1	152128157	152128157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:152128157G>A	uc001ezs.1	-	2	1483	c.1418C>T	c.(1417-1419)tCc>tTc	p.S473F		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	473	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTGTAGTGGGAACTCTGGCC	0.512000														428			298		0	0	0.014410	0	0
TTC40	54777	broad.mit.edu	37	10	134624457	134624457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:134624457C>T	uc021qbc.1	-	55	7681	c.7580G>A	c.(7579-7581)aGg>aAg	p.R2527K		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	688										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CAGGCACCTCCTGTGCTCCAC	0.672000														6			4		0	0	0.009096	0	0
FAM150A	389658	broad.mit.edu	37	8	53454993	53454993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:53454993C>T	uc003xrd.3	-	1	408	c.203G>A	c.(202-204)aGa>aAa	p.R68K	FAM150A_uc011ldt.2_Missense_Mutation_p.R68K	NM_207413	NP_997296	Q6UXT8	F150A_HUMAN	Homo sapiens family with sequence similarity 150, member A (FAM150A), mRNA.	68						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				GTTAGAGTCTCTTGGGAATAT	0.274000														10			12		0	0	0.013537	0	0
AHNAK	79026	broad.mit.edu	37	11	62294664	62294664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:62294664G>A	uc001ntl.3	-	4	7525	c.7225C>T	c.(7225-7227)Ccc>Tcc	p.P2409S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2409					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)				TCCAATTTGGGAACATCTACA	0.483000														44			17		0	0	0.004990	0	0
LPA	4018	broad.mit.edu	37	6	160968946	160968946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:160968946C>T	uc003qtl.3	-	32	5299	c.5179G>A	c.(5179-5181)Gga>Aga	p.G1727R		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4235	Kringle 16.				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)	CCCCGGTATCCTTTCCCATTC	0.488000														34			20		0	0	0.008871	0	0
OR10A2	341276	broad.mit.edu	37	11	6891351	6891351	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:6891351C>T	uc001meu.1	+	0	366	c.366C>T	c.(364-366)atC>atT	p.I122I		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		ACCCAGTCATCATGAACCAAA	0.512000														79			81		0	0	0.014410	0	0
CHDH	55349	broad.mit.edu	37	3	53857356	53857356	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:53857356C>T	uc003dgz.3	-	2	1121	c.680G>A	c.(679-681)tGg>tAg	p.W227*		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA.	227					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CATGTCCATCCAGCCGAAGCC	0.607000														11			6		0	0	0.001168	0	0
SYT15	83849	broad.mit.edu	37	10	46965118	46965118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:46965118G>A	uc001jea.3	-	5	980	c.827C>T	c.(826-828)cCc>cTc	p.P276L	SYT15_uc001jdz.2_Missense_Mutation_p.P276L|SYT15_uc001jeb.3_Missense_Mutation_p.P154L|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	276						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						AAACTCCGAGGGGGGCTGGGG	0.642000														105			14		0	0	0.004990	0	0
NLRC5	84166	broad.mit.edu	37	16	57100492	57100492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:57100492C>T	uc021tiu.1	+	32	4415	c.4288C>T	c.(4288-4290)Cgc>Tgc	p.R1430C	NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Missense_Mutation_p.R317C	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1430					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GGAATTTCCTCGCCAGGAAGA	0.637000														18			13		0	0	0.004007	0	0
CCDC82	79780	broad.mit.edu	37	11	96117829	96117829	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:96117829C>T	uc001pfx.4	-	3	297	c.83G>A	c.(82-84)cGa>cAa	p.R28Q	CCDC82_uc009ywp.3_Missense_Mutation_p.R28Q|CCDC82_uc009ywr.3_Missense_Mutation_p.R28Q|CCDC82_uc009yws.3_Missense_Mutation_p.R28Q	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	Homo sapiens coiled-coil domain containing 82 (CCDC82), mRNA.	28							protein binding	p.R28Q(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TCTTTTAGTTCGCCTCCAATC	0.353000														37			30		0	0	0.007291	0	0
OR4S2	219431	broad.mit.edu	37	11	55418847	55418847	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:55418847C>T	uc001nhs.1	+	0	468	c.468C>T	c.(466-468)atC>atT	p.I156I		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				ACTCCATTATCCAAGTGGCTC	0.433000														86			64		0	0	0.014410	0	0
SORL1	6653	broad.mit.edu	37	11	121393634	121393634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:121393634G>A	uc001pxx.3	+	10	1661	c.1532G>A	c.(1531-1533)gGa>gAa	p.G511E		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	511					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.G511E(2)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGCTCAGTGGGAAAGAACTTG	0.473000														39			24		0	0	0.005443	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045754	142045754	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:142045754C>T	uc003vxp.4	+	1	391	c.282C>T	c.(280-282)ttC>ttT	p.F94F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		CTCACTTATTCCTTCACCTAC	0.502000														80			63		0	0	0.014410	0	0
RAF1	5894	broad.mit.edu	37	3	12645699	12645699	+	Missense_Mutation	SNP	G	A	A	rs80338796		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:12645699G>A	uc003bxf.4	-	6	1185	c.770C>T	c.(769-771)tCg>tTg	p.S257L	RAF1_uc011aut.2_Missense_Mutation_p.S42L|RAF1_uc011auu.2_Missense_Mutation_p.S175L	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	257			S -> L (in NS5 and LEOPARD2; shows in vitro greater kinase activity and enhanced ERK activation than wild-type).		Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.S257L(6)|p.S257W(2)	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	TGTGGATGTCGACCTCTGCCT	0.527000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					51			46		0	0	0.011902	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203161	140203161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:140203161G>A	uc003lhl.2	+	0	1801	c.1801G>A	c.(1801-1803)Ggc>Agc	p.G601S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.G601S|PCDHAC2_uc003lhj.1_Missense_Mutation_p.G601S	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	615	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGATTCGGGCTACAACGC	0.672000														13			31		0	0	0.009535	0	0
MECOM	2122	broad.mit.edu	37	3	168840402	168840402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:168840402C>T	uc011bpj.1	-	5	1347	c.944G>A	c.(943-945)aGt>aAt	p.S315N	MECOM_uc010hwk.1_Missense_Mutation_p.S150N|MECOM_uc003ffj.3_Missense_Mutation_p.S191N|MECOM_uc003ffi.3_Missense_Mutation_p.S127N|MECOM_uc011bpi.1_Missense_Mutation_p.S127N|MECOM_uc003ffn.3_Missense_Mutation_p.S127N|MECOM_uc003ffk.2_Missense_Mutation_p.S127N|MECOM_uc003ffl.2_Missense_Mutation_p.S287N|MECOM_uc011bpk.1_Missense_Mutation_p.S127N|MECOM_uc010hwn.2_Missense_Mutation_p.S315N|MECOM_uc003ffm.1_Missense_Mutation_p.S191N	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTGCTTTCCACTGTCATGTGA	0.433000														36			22		0	0	0.012319	0	0
AK123067	0	broad.mit.edu	37	10	43178809	43178809	+	RNA	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:43178809G>A	uc001jah.1	-	3		c.497C>T								Homo sapiens cDNA FLJ41072 fis, clone 3NB692005439.																		GTCTCACCATGGACTCGAGAG	0.428000														1			3		0	0	0.009096	0	0
TPTE2	93492	broad.mit.edu	37	13	19997285	19997285	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:19997285C>T	uc001umd.3	-	20	1697	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.E385K|TPTE2_uc001ume.3_Missense_Mutation_p.E419K|TPTE2_uc009zzm.3_Missense_Mutation_p.E167K|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.E167K	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	496	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E419*(1)|p.E496*(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTATCCAATTCATTTCTTGGT	0.368000														27			13		0	0	0.013537	0	0
SCN5A	6331	broad.mit.edu	37	3	38592469	38592469	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:38592469C>T	uc021wvo.1	-	26	5446	c.5394G>A	c.(5392-5394)tgG>tgA	p.W1798*	SCN5A_uc021wvk.1_Nonsense_Mutation_p.W1765*|SCN5A_uc021wvl.1_Nonsense_Mutation_p.W1744*|SCN5A_uc021wvm.1_Nonsense_Mutation_p.W1780*|SCN5A_uc021wvn.1_Nonsense_Mutation_p.W1797*|SCN5A_uc021wvp.1_Nonsense_Mutation_p.W1798*|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Nonsense_Mutation_p.W1610*|SCN5A_uc021wvi.1_Nonsense_Mutation_p.W1664*	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1798					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAAATTTCTCCCAGATCTCAT	0.532000														27			34		0	0	0.012213	0	0
CHN2	1124	broad.mit.edu	37	7	29546880	29546880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:29546880C>T	uc003szz.3	+	10	1465	c.1028C>T	c.(1027-1029)cCa>cTa	p.P343L	CHN2_uc011jzs.2_Missense_Mutation_p.P418L|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Missense_Mutation_p.P308L|CHN2_uc011jzt.2_Missense_Mutation_p.P356L|CHN2_uc010kvd.3_Missense_Mutation_p.P199L|CHN2_uc011jzu.2_Missense_Mutation_p.P328L|CHN2_uc010kvh.3_Intron|CHN2_uc010kvi.3_Intron|CHN2_uc010kve.3_Intron|CHN2_uc003taa.3_Missense_Mutation_p.P207L|CHN2_uc010kvf.3_Missense_Mutation_p.P149L|CHN2_uc010kvg.3_Intron|CHN2_uc010kvj.3_Intron|CHN2_uc010kvk.3_Missense_Mutation_p.P18L|CHN2_uc010kvl.3_Intron|CHN2_uc010kvm.3_Missense_Mutation_p.P162L|CHN2_uc011jzv.2_Missense_Mutation_p.P136L	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	343	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						AATGTCTATCCAGACATAAAC	0.388000														18			18		0	0	0.006122	0	0
OR6C2	341416	broad.mit.edu	37	12	55846618	55846618	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:55846618C>T	uc001sgz.1	+	0	621	c.621C>T	c.(619-621)atC>atT	p.I207I		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CACTCATTATCACCCTAGTTT	0.393000														66			44		0	0	0.010771	0	0
NUP210L	91181	broad.mit.edu	37	1	154002385	154002386	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:154002385_154002386TC>AT	uc001fdw.3	-	27	3913_3914	c.3841_3842GA>AT	c.(3841-3843)gaa>ATa	p.E1281I	NUP210L_uc009woq.3_Missense_Mutation_p.E190I|NUP210L_uc010peh.2_Missense_Mutation_p.E1281I	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1281						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GATCTGTACTTCATCAGAGAGT	0.401000														30			20		0	0	0.004672	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540392	96540392	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:96540392G>A	uc010qnz.2	+	3	618	c.618G>A	c.(616-618)agG>agA	p.R206R	CYP2C19_uc009xus.1_Silent_p.R71R|CYP2C19_uc010qny.2_Silent_p.R184R	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	206					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)	AAAACATCAGGATTGTAAGCA	0.373000														50			28		0	0	0.008361	0	0
LGSN	51557	broad.mit.edu	37	6	63990574	63990574	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:63990574C>T	uc003peh.3	-	3	916	c.882G>A	c.(880-882)agG>agA	p.R294R	LGSN_uc003pei.3_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	294					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AATTATATTTCCTTGCCACTT	0.418000														21			21		0	0	0.010504	0	0
OTOGL	283310	broad.mit.edu	37	12	80761448	80761448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:80761448G>A	uc001szd.3	+	52	6418	c.6412G>A	c.(6412-6414)Gaa>Aaa	p.E2138K	OTOGL_uc021rba.1_Missense_Mutation_p.E157K|OTOGL_uc009zsg.2_Missense_Mutation_p.E18K	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTGTCTGGAAGAAAAAGATAA	0.333000														5			8		0	0	0.004482	0	0
NCAPD3	23310	broad.mit.edu	37	11	134048799	134048799	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:134048799G>A	uc001qhd.1	-	20	3198	c.2592C>T	c.(2590-2592)gcC>gcT	p.A864A	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	864					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GACACAGCTGGGCTATATCCC	0.428000														14			14		0	0	0.003163	0	0
PRSS35	167681	broad.mit.edu	37	6	84234157	84234157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:84234157G>A	uc003pjz.3	+	1	1237	c.997G>A	c.(997-999)Gat>Aat	p.D333N	PRSS35_uc010kbm.3_Missense_Mutation_p.D333N|PRSS35_uc021zce.1_Missense_Mutation_p.D333N	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	333	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CGAATCCAATGATCTCCTTTA	0.473000														47			39		0	0	0.006999	0	0
PSG9	5678	broad.mit.edu	37	19	43772076	43772076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:43772076C>T	uc002owd.4	-	1	389	c.290G>A	c.(289-291)gGa>gAa	p.G97E	PSG9_uc002owe.4_Missense_Mutation_p.G97E|PSG9_uc010xwm.2_Missense_Mutation_p.G97E|PSG9_uc002owf.4_Missense_Mutation_p.G97E|PSG9_uc002owg.2_Missense_Mutation_p.G97E	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	97	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TGTTTCTCTTCCACTGTATGC	0.428000														130			80		0	0	0.014410	0	0
ANO5	203859	broad.mit.edu	37	11	22301197	22301197	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:22301197C>T	uc001mqi.2	+	21	2945	c.2628C>T	c.(2626-2628)ctC>ctT	p.L876L	ANO5_uc001mqj.2_Silent_p.L875L	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	876						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCAAGATTCTCCATGATTTTG	0.348000														28			13		0	0	0.004007	0	0
SERPINA3	12	broad.mit.edu	37	14	95081325	95081325	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:95081325T>A	uc001ydp.3	+	1	706	c.547T>A	c.(547-549)Tac>Aac	p.Y183N	SERPINA3_uc001ydo.4_Missense_Mutation_p.Y208N|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.Y183N|SERPINA3_uc001yds.3_Missense_Mutation_p.Y183N	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	183					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CATCAACGACTACGTGAAGAA	0.493000														51			36		0	0	0.003271	0	0
SORL1	6653	broad.mit.edu	37	11	121416054	121416054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:121416054C>T	uc001pxx.3	+	13	2096	c.1967C>T	c.(1966-1968)cCc>cTc	p.P656L		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	656					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CGGCGGACCCCCCATGCCACA	0.542000														38			22		0	0	0.012319	0	0
TRPM5	29850	broad.mit.edu	37	11	2439583	2439583	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:2439583G>A	uc010qxl.2	-	5	729	c.720C>T	c.(718-720)atC>atT	p.I240I	TRPM5_uc001lwm.4_Silent_p.I240I|TRPM5_uc009ydn.3_Silent_p.I242I	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	240						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CGGCCCTGGAGATCCTCTGAG	0.672000														121			101		0	0	0.014410	0	0
SREK1	140890	broad.mit.edu	37	5	65470803	65470803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:65470803C>T	uc003jun.3	+	9	1634	c.1514C>T	c.(1513-1515)tCt>tTt	p.S505F	SREK1_uc010iwy.3_Missense_Mutation_p.S389F|SREK1_uc003juo.3_Missense_Mutation_p.S389F	NM_001077199	NP_631907	Q8WXA9	SREK1_HUMAN	Homo sapiens splicing regulatory glutamine/lysine-rich protein 1 (SREK1), transcript variant 1, mRNA.	389					RNA splicing|mRNA processing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						AGCAGGAGTTCTTCCAGATCG	0.398000														5			12		0	0	0.006122	0	0
SYNE2	23224	broad.mit.edu	37	14	64608751	64608751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:64608751C>T	uc001xgl.3	+	81	15481	c.15251C>T	c.(15250-15252)tCc>tTc	p.S5084F	SYNE2_uc001xgm.3_Missense_Mutation_p.S5084F|SYNE2_uc010apy.3_Missense_Mutation_p.S1469F|SYNE2_uc001xgn.3_Missense_Mutation_p.S46F|SYNE2_uc021rui.1_Missense_Mutation_p.S46F|SYNE2_uc001xgo.3_Non-coding_Transcript	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5084					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			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)		GATGAAGACTCCGTGCATTCA	0.388000														10			12		0	0	0.013537	0	0
GABRA6	2559	broad.mit.edu	37	5	161118971	161118971	+	Missense_Mutation	SNP	C	T	T	rs77320885		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:161118971C>T	uc003lyu.2	+	7	1189	c.851C>T	c.(850-852)aCc>aTc	p.T284I	GABRA6_uc003lyv.2_Missense_Mutation_p.T55I	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	284					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)	TTAACTATGACCACTTTGAGC	0.403000										TCGA Ovarian(5;0.080)				9			33		0	0	0.009535	0	0
UGT8	7368	broad.mit.edu	37	4	115597099	115597099	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:115597099G>A	uc003ibs.2	+	5	1803	c.1281G>A	c.(1279-1281)caG>caA	p.Q427Q	UGT8_uc003ibt.2_Silent_p.Q427Q|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	427					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AGAGGGCTCAGAAGCTTTCGG	0.393000														32			15		0	0	0.003163	0	0
NEFM	4741	broad.mit.edu	37	8	24776032	24776032	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:24776032G>A	uc003xed.4	+	2	2697	c.2664G>A	c.(2662-2664)gaG>gaA	p.E888E	NEFM_uc011lac.1_Silent_p.E670E|NEFM_uc010lue.3_Silent_p.E512E	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	888	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGCATGAAGAGACCTTTGAGG	0.418000														83			59		0	0	0.014410	0	0
AK098438	0	broad.mit.edu	37	1	21752760	21752760	+	RNA	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:21752760C>T	uc001bep.1	-	2		c.216G>A								Homo sapiens cDNA FLJ25572 fis, clone JTH05111.																		ACGTGTTCTTCCTCCAATGAG	0.453000														29			27		0	0	0.003755	0	0
LRP1B	53353	broad.mit.edu	37	2	141777574	141777574	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:141777574C>T	uc002tvj.1	-	11	2859	c.1887G>A	c.(1885-1887)ctG>ctA	p.L629L	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	629					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGCTTTTTCCAGCCTGGCCA	0.428000										TSP Lung(27;0.18)				45			38		0	0	0.004289	0	0
ERO1L	30001	broad.mit.edu	37	14	53138399	53138399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:53138399G>A	uc001wzv.3	-	5	677	c.457C>T	c.(457-459)Ctt>Ttt	p.L153F		NM_014584	NP_055399	Q96HE7	ERO1A_HUMAN	Homo sapiens ERO1-like (S. cerevisiae) (ERO1L), mRNA.	153					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					GTCCACTGAAGAACAGCCTTC	0.284000														14			10		0	0	0.010729	0	0
GPR98	84059	broad.mit.edu	37	5	89924507	89924507	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:89924507T>C	uc003kju.3	+	7	1463	c.1367T>C	c.(1366-1368)cTc>cCc	p.L456P	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	456	Calx-beta 4.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)		TCTGGAGTTCTCCATTTTGCA	0.478000														10			39		0	0	0.010771	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110478974	110478974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:110478974G>A	uc003yne.3	+	49	8685	c.8581G>A	c.(8581-8583)Gat>Aat	p.D2861N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2861					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)			GCTTGAAAAGGATGTGGTTCT	0.388000										HNSCC(38;0.096)				5			9		0	0	0.013537	0	0
INS-IGF2	723961	broad.mit.edu	37	11	2170541	2170541	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:2170541G>A	uc001lvm.3	-	2	281	c.222C>T	c.(220-222)acC>acT	p.T74T	IGF2_uc001lvh.3_5'UTR|IGF2_uc001lvi.3_Non-coding_Transcript	NM_001042376	NP_001035835	Q1WM24	Q1WM24_HUMAN	Homo sapiens INS-IGF2 readthrough (INS-IGF2), transcript variant 2, mRNA.	74					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		CCTCTGGCCAGGTTGACGTGG	0.592000														54			38		0	0	0.014410	0	0
PSMA8	143471	broad.mit.edu	37	18	23759033	23759033	+	Splice_Site	SNP	T	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:23759033T>C	uc002kvq.3	+	6	730	c.616_splice	c.e6-1	p.V206_splice	PSMA8_uc002kvo.3_Splice_Site_p.V162_splice|PSMA8_uc002kvp.3_Splice_Site_p.V200_splice|PSMA8_uc002kvr.3_Splice_Site_p.V174_splice	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 8 (PSMA8), transcript variant 1, mRNA.	206					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			CTACATTAGGTTGTCCAGTCT	0.289000														34			27		0	0	0.008361	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187702044	187702044	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:187702044C>T	uc002upu.1	-	4	772	c.732G>A	c.(730-732)ggG>ggA	p.G244G		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	244					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TATAACACTTCCCCTCAATTG	0.368000														51			22		0	0	0.002780	0	0
GPR158	57512	broad.mit.edu	37	10	25888089	25888089	+	Silent	SNP	C	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:25888089C>A	uc001isj.3	+	10	3594	c.3534C>A	c.(3532-3534)acC>acA	p.T1178T	GPR158_uc001isk.3_Silent_p.T553T	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1178						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGTTTGAGACCCCAGCTCAAC	0.458000														33			25		9.57634e-11	1.01208e-10	0.003330	1	0
SLC6A19	340024	broad.mit.edu	37	5	1216695	1216695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:1216695G>A	uc003jbw.4	+	6	966	c.910G>A	c.(910-912)Gtg>Atg	p.V304M		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	304					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GAAGGACTCGGTGATTGTGTC	0.592000														9			19		0	0	0.012319	0	0
OR13C2	392376	broad.mit.edu	37	9	107367354	107367354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:107367354C>T	uc011lvq.2	-	0	555	c.555G>A	c.(553-555)atG>atA	p.M185I		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGGCCAGTTTCATGACAGCCA	0.398000														38			53		0	0	0.014410	0	0
XIRP2	129446	broad.mit.edu	37	2	168107566	168107566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:168107566C>T	uc002udx.3	+	8	9753	c.9664C>T	c.(9664-9666)Cgt>Tgt	p.R3222C	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R3047C|XIRP2_uc010fpq.3_Missense_Mutation_p.R3000C|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3047					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						TGCAACACTTCGTCGTCAAAT	0.448000														45			25		0	0	0.003330	0	0
DBC1	1620	broad.mit.edu	37	9	121929941	121929941	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:121929941C>T	uc004bkc.2	-	7	2163	c.1707G>A	c.(1705-1707)ggG>ggA	p.G569G		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	569					cell cycle arrest|cell death	cytoplasm	protein binding	p.S568R(1)		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						CCGAATGGCTCCCGCTAAAGG	0.547000														31			22		0	0	0.012319	0	0
INPP5E	56623	broad.mit.edu	37	9	139324151	139324151	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:139324151G>A	uc004cho.3	-	9	2296	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S	INPP5E_uc010nbm.3_Silent_p.S636S	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 72 kDa (INPP5E), mRNA.	637						Golgi cisterna membrane|cilium axoneme|cytoskeleton	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		AGATGGTGCTGGAGTTCTGAC	0.463000														126			99		0	0	0.014410	0	0
MON1A	84315	broad.mit.edu	37	3	49950665	49950665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:49950665C>T	uc003cxz.3	-	1	532	c.406G>A	c.(406-408)Gga>Aga	p.G136R	MON1A_uc003cya.3_Missense_Mutation_p.G136R|MON1A_uc003cyb.2_Missense_Mutation_p.G136R|MON1A_uc010hlb.2_Missense_Mutation_p.G136R	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	Homo sapiens MON1 homolog A (yeast) (MON1A), transcript variant 1, mRNA.	39							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCTCCATTCCCTGGGCCATT	0.547000														47			27		0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9089658	9089658	+	Silent	SNP	C	T	T	rs147920442	by1000genomes	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:9089658C>T	uc002mkp.3	-	0	2361	c.2157G>A	c.(2155-2157)aaG>aaA	p.K719K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	719	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						TGGTGCTTATCTTGGTGTGTC	0.488000														50			32		0	0	0.013726	0	0
ZNF609	23060	broad.mit.edu	37	15	64967026	64967026	+	Missense_Mutation	SNP	C	T	T	rs142077559		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:64967026C>T	uc002ann.3	+	3	1973	c.1973C>T	c.(1972-1974)cCc>cTc	p.P658L		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	658						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGCCCGTCCCATTGCCCCT	0.488000														42			26		0	0	0.004656	0	0
C11orf67	28971	broad.mit.edu	37	11	77553552	77553552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:77553552C>T	uc001oyq.3	+	1	108	c.10C>T	c.(10-12)Cct>Tct	p.P4S	C11orf67_uc001oyp.3_Missense_Mutation_p.P4S|C11orf67_uc001oyr.1_Missense_Mutation_p.P4S	NM_024684	NP_078960	Q9H7C9	CK067_HUMAN	Homo sapiens chromosome 11 open reading frame 67 (C11orf67), mRNA.	4										stomach(2)	2	all_cancers(14;5.69e-19)|all_epithelial(13;2.15e-21)|Breast(9;1.16e-15)|Ovarian(111;0.152)		Epithelial(5;1.37e-49)|all cancers(3;5.58e-46)|BRCA - Breast invasive adenocarcinoma(5;7.26e-31)			TATGACTTCCCCTGAAATTGC	0.373000														25			23		0	0	0.002780	0	0
DNAH8	1769	broad.mit.edu	37	6	38793939	38793939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:38793939G>A	uc021yzh.1	+	28	3964	c.3855G>A	c.(3853-3855)atG>atA	p.M1285I	DNAH8_uc003ooe.2_Missense_Mutation_p.M1068I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.L1284L(1)		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						CAGAGCCGATGAAATTGGCCT	0.358000														2			14		0	0	0.002450	0	0
SCAP	22937	broad.mit.edu	37	3	47470026	47470026	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:47470026G>A	uc003crh.1	-	3	642	c.387C>T	c.(385-387)atC>atT	p.I129I	SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	129					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CGTGGTTCCGGATCTCCTCCA	0.527000														80			68		0	0	0.014410	0	0
ITM2A	9452	broad.mit.edu	37	X	78616621	78616621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:78616621C>T	uc004edh.3	-	5	1094	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	ITM2A_uc011mqr.2_Missense_Mutation_p.E209K	NM_004867	NP_004858	O43736	ITM2A_HUMAN	Homo sapiens integral membrane protein 2A (ITM2A), transcript variant 1, mRNA.	253						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						ACAATAAATTCGTTGGGGAAG	0.353000														1			19		0	0	0.003330	0	0
TRAF5	7188	broad.mit.edu	37	1	211545749	211545749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:211545749C>T	uc010psx.2	+	10	1497	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	TRAF5_uc001hih.3_Missense_Mutation_p.S460F|TRAF5_uc001hii.3_Missense_Mutation_p.S460F|TRAF5_uc010psy.2_Missense_Mutation_p.S354F|TRAF5_uc001hij.3_Missense_Mutation_p.S460F	NM_001033910	NP_665702	O00463	TRAF5_HUMAN	Homo sapiens TNF receptor-associated factor 5 (TRAF5), transcript variant 3, mRNA.	460	MATH.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TCACACCTGTCCCTATACTTT	0.557000														78			34		0	0	0.004289	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43015811	43015811	+	RNA	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:43015811G>A	uc001jab.4	-	4		c.3389C>T			ZNF37BP_uc001jac.4_Non-coding_Transcript|ZNF37BP_uc001jaa.4_Non-coding_Transcript					Homo sapiens zinc finger protein 37B, pseudogene (ZNF37BP), non-coding RNA.																		TTCACTGAAGGATTTCTCCAT	0.403000														10			9		0	0	0.004482	0	0
OR8S1	341568	broad.mit.edu	37	12	48921757	48921757	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:48921757G>A	uc010slu.2	+	1	951	c.951G>A	c.(949-951)tgG>tgA	p.W317*		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AGGCCAGATGGAAGAGACCAG	0.582000														28			17		0	0	0.006122	0	0
DKK3	27122	broad.mit.edu	37	11	11987501	11987501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:11987501G>A	uc010rcg.1	-	6	843	c.685C>T	c.(685-687)Cct>Tct	p.P229S	DKK3_uc010rcf.2_Missense_Mutation_p.P201S|DKK3_uc001mju.3_Missense_Mutation_p.P229S|DKK3_uc001mjv.3_Missense_Mutation_p.P229S|DKK3_uc001mjw.3_Missense_Mutation_p.P229S	NM_015881	NP_056965	Q9UBP4	DKK3_HUMAN	Homo sapiens dickkopf 3 homolog (Xenopus laevis) (DKK3), transcript variant 1, mRNA.	229	DKK-type Cys-2.				Wnt receptor signaling pathway|adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		GTGCACACAGGGAACAGCAGG	0.627000														17			14		0	0	0.001855	0	0
CFTR	1080	broad.mit.edu	37	7	117251758	117251758	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:117251758A>G	uc003vjd.3	+	19	3395	c.3263A>G	c.(3262-3264)aAc>aGc	p.N1088S	CFTR_uc011knq.2_Missense_Mutation_p.N494S	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1088	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CATACTGCCAACTGGTTCTTG	0.403000									Cystic Fibrosis					17			18		0	0	0.006122	0	0
KIAA0513	9764	broad.mit.edu	37	16	85100992	85100992	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:85100992G>A	uc002fiu.3	+	1	535	c.315G>A	c.(313-315)aaG>aaA	p.K105K	KIAA0513_uc010voj.2_Silent_p.K105K|KIAA0513_uc002fit.3_Silent_p.K105K	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	105						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		ACGTGGAGAAGATCTTCTCTG	0.622000														21			24		0	0	0.002780	0	0
ZNF284	342909	broad.mit.edu	37	19	44590447	44590447	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:44590447C>T	uc002oyg.1	+	4	1032	c.816C>T	c.(814-816)tcC>tcT	p.S272S	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	Homo sapiens zinc finger protein 284 (ZNF284), mRNA.	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TTCACAATTCCCAGCTTCGGG	0.393000														35			27		0	0	0.003954	0	0
KRT76	51350	broad.mit.edu	37	12	53164827	53164827	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:53164827C>T	uc001sax.3	-	6	1494	c.1440G>A	c.(1438-1440)gtG>gtA	p.V480V		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	480	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGCAATCTCCACATCCAGGG	0.552000														41			22		0	0	0.014323	0	0
FRAS1	80144	broad.mit.edu	37	4	79199862	79199862	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:79199862G>A	uc003hlb.2	+	9	1475	c.1035G>A	c.(1033-1035)agG>agA	p.R345R	FRAS1_uc003hkw.3_Silent_p.R345R|FRAS1_uc003hky.1_Silent_p.R49R|FRAS1_uc003hkz.3_Silent_p.R49R	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	345					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						GCATTTCAAGGAATGGTTATT	0.328000														24			18		0	0	0.010504	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1965396	1965396	+	Splice_Site	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:1965396C>T	uc021qsx.1	-	21	2240	c.2009_splice	c.e21-1	p.G670_splice	CACNA2D4_uc009zds.2_Splice_Site|CACNA2D4_uc009zdt.1_Splice_Site_p.G534_splice|CACNA2D4_uc009zdr.2_5'Flank	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	670						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCATGCAGGCCTGAAACCAGA	0.507000														103			86		0	0	0.014410	0	0
CDH9	1007	broad.mit.edu	37	5	26988490	26988490	+	Splice_Site	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:26988490C>T	uc003jgs.1	-	2	121	c.-48_splice	c.e2-1		CDH9_uc010iug.3_Splice_Site	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTGTTTTTCCTAAAGAGTAA	0.313000														3			10		0	0	0.006214	0	0
TET3	200424	broad.mit.edu	37	2	74274088	74274088	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:74274088G>A	uc002skb.4	+	0	639	c.639G>A	c.(637-639)aaG>aaA	p.K213K	TET3_uc010fez.2_Silent_p.K213K	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	213							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCATTGCCAAGGAAAAAAACA	0.607000														26			19		0	0	0.008871	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367210	105367210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:105367210C>T	uc003ylx.1	+	2	1184	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	379					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GACCTGGGTTCCTCTCAGTGT	0.393000														21			38		0	0	0.004289	0	0
SLC13A5	284111	broad.mit.edu	37	17	6589655	6589655	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:6589655C>T	uc002gdj.3	-	11	1666	c.1578G>A	c.(1576-1578)gtG>gtA	p.V526V	SLC13A5_uc010clq.3_Silent_p.V483V|SLC13A5_uc002gdk.3_Silent_p.V509V|SLC13A5_uc010vtf.2_Silent_p.V480V	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	526						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CTCCTGTTTTCACCTGGAAAA	0.517000														33			22		0	0	0.002780	0	0
ALPI	248	broad.mit.edu	37	2	233323452	233323452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:233323452G>A	uc002vst.4	+	9	1371	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	ALPI_uc002vsu.4_Missense_Mutation_p.E343K	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	432					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GAATGAGAGCGAGAGCGGTGA	0.652000														29			26		0	0	0.005443	0	0
MYCBP2	23077	broad.mit.edu	37	13	77641724	77641724	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:77641724G>A	uc021rks.1	-	70	12714	c.12447C>T	c.(12445-12447)ttC>ttT	p.F4149F	MYCBP2_uc010aev.3_Silent_p.F3515F|MYCBP2_uc001vke.3_Silent_p.F728F	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	4111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCTGGAATTGAAAATCATCG	0.388000														69			56		0	0	0.014410	0	0
OR52B4	143496	broad.mit.edu	37	11	4389277	4389277	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:4389277G>A	uc010qye.2	-	0	340	c.249C>T	c.(247-249)gcC>gcT	p.A83A		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGATAGCTAAGGCCTGAGGAA	0.527000														19			13		0	0	0.001855	0	0
ADAM2	2515	broad.mit.edu	37	8	39626980	39626980	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:39626980G>A	uc003xnj.3	-	11	1218	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	ADAM2_uc003xnk.3_Silent_p.F362F|ADAM2_uc011lck.2_Silent_p.F381F|ADAM2_uc003xnl.3_Silent_p.F255F	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	381					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTGCTGTTTGAAAAAAGGAT	0.443000														26			16		0	0	0.006122	0	0
PXDN	7837	broad.mit.edu	37	2	1653137	1653137	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:1653137C>T	uc002qxa.3	-	16	2479	c.2415G>A	c.(2413-2415)acG>acA	p.T805T		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	805					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.T805T(2)|p.T805M(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGACGGTCTCCGTCCCGATCA	0.652000														26			20		0	0	0.012319	0	0
PSMC3	5702	broad.mit.edu	37	11	47446711	47446711	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:47446711C>T	uc001nfh.2	-	2	440	c.246G>A	c.(244-246)gtG>gtA	p.V82V		NM_002804	NP_002795	P17980	PRS6A_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3), mRNA.	82					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGGTCTTGTTCACTTTGATTT	0.507000														47			33		0	0	0.003755	0	0
SALL3	27164	broad.mit.edu	37	18	76754520	76754520	+	Silent	SNP	G	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:76754520G>T	uc002lmt.3	+	1	2529	c.2529G>T	c.(2527-2529)ctG>ctT	p.L843L	SALL3_uc010dra.3_Silent_p.L450L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	843					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TTGCCGCCCTGGAGAACCAGA	0.667000														74			5		3.59834e-05	3.76892e-05	0.001168	1	0
ATP13A4	84239	broad.mit.edu	37	3	193156358	193156358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:193156358G>A	uc003ftd.3	-	22	2686	c.2578C>T	c.(2578-2580)Cat>Tat	p.H860Y	ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	860					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)		ATGCCCACATGAGCCATTTTC	0.453000														18			18		0	0	0.004990	0	0
APBA1	320	broad.mit.edu	37	9	72046311	72046311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:72046311G>A	uc004ahh.2	-	12	2722	c.2446C>T	c.(2446-2448)Cat>Tat	p.H816Y		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	816	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTCTTCATATGAATCTGAGGG	0.622000														46			36		0	0	0.003755	0	0
IL1R1	3554	broad.mit.edu	37	2	102793102	102793102	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:102793102G>A	uc002tbq.3	+	11	1911	c.1593G>A	c.(1591-1593)tgG>tgA	p.W531*	IL1R1_uc010fix.3_Nonsense_Mutation_p.W500*|IL1R1_uc002tbr.3_Nonsense_Mutation_p.W531*	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	531	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CAAGGTTCTGGAAGAATGTCA	0.483000														26			20		0	0	0.007413	0	0
SCN9A	6335	broad.mit.edu	37	2	167136983	167136983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:167136983C>T	uc010fpl.3	-	13	2535	c.2194G>A	c.(2194-2196)Gat>Aat	p.D732N	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	743						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACAAAAGGATCCATTACAATA	0.333000														7			10		0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9075173	9075173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:9075173C>T	uc002mkp.3	-	2	12477	c.12273G>A	c.(12271-12273)atG>atA	p.M4091I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4093	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.M4091I(6)|p.G4090V(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGCAAGGATCATTCCTCCAG	0.527000														35			37		0	0	0.003755	0	0
AGXT	189	broad.mit.edu	37	2	241808730	241808730	+	Silent	SNP	G	A	A	rs145419586		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:241808730G>A	uc002waa.4	+	1	430	c.309G>A	c.(307-309)ggG>ggA	p.G103G	AGXT_uc010zoi.1_Silent_p.G103G	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	103					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCCTGGTTGGGGCCAATGGCA	0.642000														61			47		0	0	0.014410	0	0
DNAJA3	9093	broad.mit.edu	37	16	4476020	4476020	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:4476020C>T	uc002cwk.3	+	0	215	c.138C>T	c.(136-138)ccC>ccT	p.P46P	DNAJA3_uc002cwl.3_Silent_p.P46P|DNAJA3_uc010uxk.2_Missense_Mutation_p.R10C	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3 (DNAJA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	46					activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|NF-kappaB binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TGAGCGTCCCCGCCTTTGCGT	0.677000														6			7		0	0	0.003080	0	0
CCR4	1233	broad.mit.edu	37	3	32995250	32995250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:32995250G>A	uc003cfg.1	+	1	504	c.336G>A	c.(334-336)atG>atA	p.M112I	CCR4_uc021wuw.1_Missense_Mutation_p.M112I	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	112					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGTGCAAGATGATTTCCTGGA	0.478000														144			95		0	0	0.014410	0	0
LPHN1	22859	broad.mit.edu	37	19	14269965	14269966	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:14269965_14269966CC>TT	uc010xnn.2	-	11	2396_2397	c.2100_2101GG>AA	c.(2098-2103)gaggag>gaAAag	p.E701K	LPHN1_uc010xno.2_Missense_Mutation_p.E696K|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	701					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTCGGGTACTCCTCCTGGGGGA	0.614000														59			36		0	0	0.004672	0	0
C12orf63	374467	broad.mit.edu	37	12	97082754	97082754	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:97082754C>T	uc021rcc.1	+	9	1428	c.1350C>T	c.(1348-1350)ctC>ctT	p.L450L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	450										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTGCGTTACTCTTTCAGGTAA	0.284000														37			22		0	0	0.002780	0	0
PTPN13	5783	broad.mit.edu	37	4	87622856	87622856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:87622856G>A	uc003hpz.3	+	6	1577	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q	PTPN13_uc003hpy.3_Missense_Mutation_p.R366Q|PTPN13_uc003hqa.3_Missense_Mutation_p.R366Q|PTPN13_uc003hqb.3_Missense_Mutation_p.R366Q	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	366						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)		TATCACACTCGAGAATTGCCC	0.433000														34			32		0	0	0.013726	0	0
SYK	6850	broad.mit.edu	37	9	93606333	93606333	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:93606333C>T	uc004aqz.3	+	1	358	c.153C>T	c.(151-153)ttC>ttT	p.F51F	SYK_uc004ara.3_Silent_p.F51F|SYK_uc004arb.3_Silent_p.F51F|SYK_uc004arc.3_Silent_p.F51F|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	51	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGGGTGGCTTCGCCCTGTCCG	0.637000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									10			13		0	0	0.001855	0	0
abParts	0	broad.mit.edu	37	14	107211013	107211013	+	RNA	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:107211013G>A	uc021ser.1	-	15		c.1361C>T								Parts of antibodies, mostly variable regions.																		AATCATCTCTGGAGATGGTGA	0.517000														39			27		0	0	0.006320	0	0
C4orf17	84103	broad.mit.edu	37	4	100434341	100434341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:100434341C>T	uc003huw.3	+	1	465	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	35										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CACCCCTCATCCCAGAAGAGT	0.468000														52			30		0	0	0.008361	0	0
MGA	23269	broad.mit.edu	37	15	42019410	42019410	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:42019410C>T	uc010ucy.2	+	9	3644	c.3463C>T	c.(3463-3465)Cga>Tga	p.R1155*	MGA_uc010ucz.2_Nonsense_Mutation_p.R1155*	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1155						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ACAGCCTGTTCGACATTACCC	0.408000														16			18		0	0	0.007413	0	0
EPHB3	2049	broad.mit.edu	37	3	184298380	184298381	+	Missense_Mutation	DNP	CC	TT	TT	rs146519815		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:184298380_184298381CC>TT	uc003foz.3	+	11	2800_2801	c.2363_2364CC>TT	c.(2362-2364)tcc>tTT	p.S788F		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	788	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GATGACCCCTCCGATCCTACCT	0.649000														43			24		0	0	0.004672	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195625	18195625	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:18195625C>T	uc001mnv.1	+	0	1242	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	274						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						TTTACTTCTTCGTGGGCTCCT	0.488000														54			44		0	0	0.014410	0	0
GRM5	2915	broad.mit.edu	37	11	88386377	88386377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:88386377C>T	uc001pcq.3	-	2	1306	c.1106G>A	c.(1105-1107)gGg>gAg	p.G369E	GRM5_uc009yvm.3_Missense_Mutation_p.G369E	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	369					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTGTGGAAACCCTTCCAGTCG	0.383000														29			23		0	0	0.002780	0	0
OIT3	170392	broad.mit.edu	37	10	74658754	74658754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:74658754C>T	uc001jte.1	+	1	612	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	132						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CTATGTGTATCGTCTGACCAA	0.547000														47			32		0	0	0.006999	0	0
UBE4B	10277	broad.mit.edu	37	1	10195157	10195157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:10195157C>T	uc021ogc.1	+	16	2978	c.2290C>T	c.(2290-2292)Cac>Tac	p.H764Y	UBE4B_uc001aqs.4_Missense_Mutation_p.H713Y|UBE4B_uc001aqr.4_Missense_Mutation_p.H584Y|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Missense_Mutation_p.H168Y	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	713					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GTATATTTTTCACCCAAGATG	0.418000														7			20		0	0	0.007413	0	0
C10orf62	414157	broad.mit.edu	37	10	99349867	99349867	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:99349867C>T	uc001koa.3	+	0	418	c.213C>T	c.(211-213)tcC>tcT	p.S71S	PI4K2A_uc001knx.2_Intron|PI4K2A_uc001kny.3_Intron|PI4K2A_uc001knz.3_Intron|PI4K2A_uc010qoy.1_Intron	NM_001009997	NP_001009997	Q5T681	CJ062_HUMAN	Homo sapiens chromosome 10 open reading frame 62 (C10orf62), mRNA.	71							protein binding			endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		AGGTCAGCTCCACGGTTCACA	0.582000														30			27		0	0	0.003954	0	0
CTNND2	1501	broad.mit.edu	37	5	11236916	11236916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:11236916G>A	uc003jfa.1	-	9	1793	c.1648C>T	c.(1648-1650)Ccg>Tcg	p.P550S	CTNND2_uc010itt.2_Missense_Mutation_p.P459S|CTNND2_uc011cmy.1_Missense_Mutation_p.P213S|CTNND2_uc011cmz.1_Missense_Mutation_p.P117S|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.P117S	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	550					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.D549Y(1)		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						GGCAGTTCCGGGTCTCTCCAT	0.478000														11			34		0	0	0.006230	0	0
MAOB	4129	broad.mit.edu	37	X	43637955	43637955	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:43637955C>T	uc004dfz.4	-	10	1287	c.1111G>A	c.(1111-1113)Gtt>Att	p.V371I	MAOB_uc011mkx.2_Missense_Mutation_p.V355I|MAOB_uc011mky.2_Missense_Mutation_p.V355I	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	371					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	GAACCCAGAACCTTGGCATAG	0.448000														0			14		0	0	0.004990	0	0
ETS2	2114	broad.mit.edu	37	21	40190484	40190484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr21:40190484C>T	uc002yxf.3	+	7	1185	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F	ETS2_uc002yxg.3_Missense_Mutation_p.S242F	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	242					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)				TTCCCCAAGTCTCGGCTCAGC	0.547000														160			122		0	0	0.014410	0	0
EPHA3	2042	broad.mit.edu	37	3	89528570	89528570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:89528570C>T	uc003dqy.3	+	16	3095	c.2870C>T	c.(2869-2871)aCc>aTc	p.T957I	EPHA3_uc021xbf.1_3'UTR	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	957	SAM.					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)		GTTGGTGTCACCGTGGTTGGG	0.413000										TSP Lung(6;0.00050)				39			24		0	0	0.005443	0	0
HYDIN	54768	broad.mit.edu	37	16	71025194	71025194	+	Splice_Site	SNP	A	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:71025194A>C	uc002ezr.3	-	25	4040	c.3889_splice	c.e25+1	p.E1297_splice		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1298										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)				TGACCTGCCTACCCTCCCCAT	0.473000														21			9		0	0	0.008291	0	0
DUSP13	51207	broad.mit.edu	37	10	76855508	76855508	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:76855508G>A	uc001jwr.3	-	2	282	c.219C>T	c.(217-219)acC>acT	p.T73T	DUSP13_uc001jws.3_3'UTR|DUSP13_uc001jwu.3_Silent_p.T166T|DUSP13_uc001jww.3_Silent_p.T123T|DUSP13_uc009xrs.3_Silent_p.T166T|DUSP13_uc001jwt.3_Silent_p.T166T|DUSP13_uc001jwv.3_Silent_p.T73T	NM_016364	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 6, mRNA.	65	Tyrosine-protein phosphatase.		K -> R (in dbSNP:rs7912300).			cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TCACAACGTGGGTGATTCCCA	0.577000														61			51		0	0	0.014410	0	0
NR1H2	7376	broad.mit.edu	37	19	50880885	50880885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:50880885C>T	uc010enw.3	+	2	492	c.23C>T	c.(22-24)tCc>tTc	p.S8F	NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Missense_Mutation_p.S8F	NM_007121	NP_009052	P55055	NR1H2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.	8					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ACCACGAGTTCCCTGGATACC	0.567000														22			16		0	0	0.007413	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237372	30237372	+	Silent	SNP	A	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:30237372A>G	uc022buf.1	+	0	675	c.675A>G	c.(673-675)gaA>gaG	p.E225E	MAGEB2_uc004dbz.3_Silent_p.E225E	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	225	MAGE.						protein binding	p.W224L(1)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AGATCTGGGAATTCCTGAATA	0.483000														26			4		0	0	0.009096	0	0
SRL	6345	broad.mit.edu	37	16	4242246	4242246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:4242246C>T	uc002cvz.4	-	5	1343	c.1330G>A	c.(1330-1332)Ggt>Agt	p.G444S	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	903	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						CCGAGGCTACCCAGGAGGCCC	0.542000														62			34		0	0	0.004289	0	0
SNTN	132203	broad.mit.edu	37	3	63638372	63638372	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:63638372C>T	uc003dlr.3	+	0	29	c.9C>T	c.(7-9)ggC>ggT	p.G3G		NM_001080537	NP_001074006	A6NMZ2	SNTAN_HUMAN	Homo sapiens sentan, cilia apical structure protein (SNTN), mRNA.	3						cilium	calcium ion binding			endometrium(2)|ovary(1)	3						GAATGGGTGGCTGTATGCACA	0.478000														23			9		0	0	0.004482	0	0
KCNIP3	30818	broad.mit.edu	37	2	96040908	96040908	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:96040908C>T	uc002sup.3	+	4	514	c.399C>T	c.(397-399)ttC>ttT	p.F133F	KCNIP3_uc002suq.3_Silent_p.F107F	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Homo sapiens Kv channel interacting protein 3, calsenilin (KCNIP3), transcript variant 1, mRNA.	133	EF-hand 2.				apoptosis|signal transduction|transcription, DNA-dependent	Golgi apparatus|endoplasmic reticulum|nucleus|plasma membrane	DNA binding|calcium ion binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		ATGCACACTTCCTCTTCAACG	0.637000														74			35		0	0	0.006230	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036297	71036297	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:71036297C>T	uc003tvy.3	+	5	990	c.990C>T	c.(988-990)ttC>ttT	p.F330F	WBSCR17_uc003tvz.3_Silent_p.F29F	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	330	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.S329S(1)|p.S329L(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)				GCTGCTCGTTCGTGGTCAACA	0.507000														63			39		0	0	0.005524	0	0
ZNF814	730051	broad.mit.edu	37	19	58386284	58386284	+	Silent	SNP	T	C	C	rs148592080	by1000genomes	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:58386284T>C	uc002qqo.2	-	2	746	c.474A>G	c.(472-474)gcA>gcG	p.A158A	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	158				A -> V (in Ref. 1; BAH13293).	regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TACACCTCTTTGCAAACAACG	0.493000														43			3		0	0	0.004672	0	0
PIK3R6	146850	broad.mit.edu	37	17	8726794	8726794	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:8726794G>A	uc002glq.1	-	13	1776	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	512					platelet activation	cytosol											CCACAGTCCGGGATGTGTCCA	0.522000														4			7		0	0	0.003080	0	0
IPW	3653	broad.mit.edu	37	15	25335008	25335008	+	RNA	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:25335008C>T	uc001yyb.4	+	4		c.751C>T			IPW_uc001yxh.1_Intron|IPW_uc001yxm.1_Intron|IPW_uc001yxn.4_Intron|IPW_uc001yxy.3_Non-coding_Transcript|IPW_uc001yyd.3_Non-coding_Transcript|IPW_uc001yyg.1_5'Flank|SNORD116-23_uc001yyh.3_5'Flank					Homo sapiens imprinted in Prader-Willi syndrome (non-protein coding) (IPW), non-coding RNA.																		TGGATCCCTCCTGAATGTAAG	0.493000														10			12		0	0	0.001855	0	0
EPHA7	2045	broad.mit.edu	37	6	93956676	93956676	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:93956676G>A	uc003poe.3	-	14	2801	c.2560C>T	c.(2560-2562)Cgt>Tgt	p.R854C	EPHA7_uc003pof.3_Missense_Mutation_p.R849C|EPHA7_uc011eac.2_Missense_Mutation_p.R850C	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	854	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R854C(2)		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)		GCTGGTAAACGATAACCTTCT	0.393000														29			16		0	0	0.003163	0	0
RYR2	6262	broad.mit.edu	37	1	237947970	237947970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:237947970G>A	uc001hyl.1	+	89	13078	c.12958G>A	c.(12958-12960)Gaa>Aaa	p.E4320K	RYR2_uc010pya.2_Missense_Mutation_p.E735K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4320					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G4319S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGCCTCGTCGAAGGTGCTAA	0.517000														36			27		0	0	0.009535	0	0
POLL	27343	broad.mit.edu	37	10	103345652	103345652	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:103345652T>A	uc001ktg.1	-	1	1143	c.377A>T	c.(376-378)gAt>gTt	p.D126V	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001ktj.2_Missense_Mutation_p.D126V|POLL_uc010qqb.2_Intron|POLL_uc001ktf.3_Missense_Mutation_p.D126V|POLL_uc001kti.2_Missense_Mutation_p.D126V|POLL_uc001ktl.3_Missense_Mutation_p.D38V|POLL_uc001ktm.3_Missense_Mutation_p.D126V|POLL_uc010qqc.2_5'UTR|POLL_uc010qqa.2_Intron|POLL_uc010qqd.2_Missense_Mutation_p.D38V|DPCD_uc001ktn.3_5'Flank	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	126	BRCT.				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		TCCAGCTACATCCACCAGCCT	0.527000								DNA polymerases (catalytic subunits)						22			21		0	0	0.002780	0	0
CHMP7	91782	broad.mit.edu	37	8	23106782	23106782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:23106782C>T	uc003xdc.2	+	2	1007	c.359C>T	c.(358-360)tCc>tTc	p.S120F	CHMP7_uc011kzs.1_Intron|CHMP7_uc003xdd.2_Missense_Mutation_p.S10F	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA.	120					cellular membrane organization|late endosome to vacuole transport	ESCRT III complex|cytosol	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGCTGGATCTCCTGGGGGGTT	0.542000														50			29		0	0	0.008361	0	0
DSG1	1828	broad.mit.edu	37	18	28913665	28913665	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:28913665C>T	uc002kwp.3	+	6	1010	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	266	Cadherin 2.				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)			ATGATAATATCCCTTACATGG	0.393000														37			23		0	0	0.003330	0	0
LRRC56	115399	broad.mit.edu	37	11	551784	551784	+	Silent	SNP	T	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:551784T>A	uc010qvz.2	+	9	1435	c.930T>A	c.(928-930)tcT>tcA	p.S310S		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	310										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCTGCTTTCTGAGGACCTGG	0.672000														15			14		0	0	0.003163	0	0
ZFHX3	463	broad.mit.edu	37	16	72828134	72828134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:72828134G>A	uc002fck.3	-	8	9120	c.8447C>T	c.(8446-8448)cCc>cTc	p.P2816L	ZFHX3_uc002fcl.3_Missense_Mutation_p.P1902L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2816					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGACATGGAGGGGCTTTCAAA	0.463000														47			51		0	0	0.014410	0	0
GALNTL6	442117	broad.mit.edu	37	4	173803993	173803993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:173803993G>A	uc003isv.3	+	7	1712	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	326	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ATGGTTTTGGGAATTGGGTGG	0.418000														69			49		0	0	0.014410	0	0
OR2L2	26246	broad.mit.edu	37	1	248201969	248201969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:248201969C>T	uc001idw.3	+	0	496	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I133V(1)		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)			CTATCCCATCCGTATAAGCAA	0.428000														58			43		0	0	0.008740	0	0
CACNA1D	776	broad.mit.edu	37	3	53814129	53814129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:53814129G>A	uc003dgv.4	+	37	4827	c.4664G>A	c.(4663-4665)cGa>cAa	p.R1555Q	CACNA1D_uc003dgu.4_Missense_Mutation_p.R1575Q|CACNA1D_uc003dgy.4_Missense_Mutation_p.R1540Q|CACNA1D_uc003dgw.4_Missense_Mutation_p.R1222Q|CACNA1D_uc003dgx.1_Missense_Mutation_p.R731Q	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1555					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCTTTGGTTCGAACGGCTCTT	0.468000														32			33		0	0	0.003755	0	0
PARP14	54625	broad.mit.edu	37	3	122414336	122414336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:122414336C>T	uc003efq.4	+	4	721	c.662C>T	c.(661-663)cCa>cTa	p.P221L	PARP14_uc021xdc.1_Missense_Mutation_p.P85L|PARP14_uc010hrk.3_Non-coding_Transcript	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAGCTTTCTCCAAGACTTCTG	0.338000														9			9		0	0	0.001855	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111098	7111098	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:7111098G>A	uc001mfc.2	+	0	934	c.747G>A	c.(745-747)cgG>cgA	p.R249R		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	249	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCAGTGTCCGGGACGACTGTC	0.652000														32			12		0	0	0.001855	0	0
OR4K13	390433	broad.mit.edu	37	14	20502796	20502796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:20502796C>T	uc010tkz.2	-	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GAGCAGGTTTCCTAACACAAT	0.418000														22			24		0	0	0.002780	0	0
ILDR2	387597	broad.mit.edu	37	1	166927084	166927084	+	Nonsense_Mutation	SNP	G	A	A	rs141350747		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:166927084G>A	uc001gdx.2	-	1	357	c.301C>T	c.(301-303)Cga>Tga	p.R101*		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	101	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GCTACTACTCGAACAGTCCTC	0.498000														54			39		0	0	0.006230	0	0
KRT35	3886	broad.mit.edu	37	17	39637025	39637025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:39637025C>T	uc002hws.3	-	0	368	c.325G>A	c.(325-327)Gcc>Acc	p.A109T		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	109	Coil 1A.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				AGGTAGCCGGCCAGGCGGTCG	0.632000														51			27		0	0	0.007291	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811130	5811130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:5811130C>T	uc010ndi.3	-	6	2754	c.2290G>A	c.(2290-2292)Gaa>Aaa	p.E764K	NLGN4X_uc004crp.3_Missense_Mutation_p.E747K|NLGN4X_uc010ndh.3_Missense_Mutation_p.E727K|NLGN4X_uc004crq.3_Missense_Mutation_p.E727K|NLGN4X_uc004crr.3_Missense_Mutation_p.E727K|NLGN4X_uc010ndj.3_Missense_Mutation_p.E727K	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	727					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.E727*(1)|p.E727K(1)|p.T763R(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATGATCTCTTCGTTCTGGATG	0.552000														0			25		0	0	0.003330	0	0
ANKS1B	56899	broad.mit.edu	37	12	99145141	99145141	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:99145141T>A	uc001tge.2	-	24	4081	c.3664A>T	c.(3664-3666)Aag>Tag	p.K1222*	ANKS1B_uc001tgf.2_Nonsense_Mutation_p.K738*|ANKS1B_uc001tgk.3_Nonsense_Mutation_p.K519*|ANKS1B_uc010svd.2_Nonsense_Mutation_p.K228*|ANKS1B_uc001tgd.2_Nonsense_Mutation_p.K388*|ANKS1B_uc009ztp.3_Nonsense_Mutation_p.K253*|ANKS1B_uc010svf.2_Nonsense_Mutation_p.K252*|ANKS1B_uc010sve.2_Nonsense_Mutation_p.K252*|ANKS1B_uc001tgh.4_Nonsense_Mutation_p.K228*|ANKS1B_uc009ztr.3_Nonsense_Mutation_p.K412*|ANKS1B_uc001tgj.3_Nonsense_Mutation_p.K388*|ANKS1B_uc001tgi.3_Nonsense_Mutation_p.K472*|ANKS1B_uc009zts.2_Nonsense_Mutation_p.K448*|ANKS1B_uc001tgg.4_Nonsense_Mutation_p.K320*|ANKS1B_uc010svg.2_Nonsense_Mutation_p.K357*	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	1222						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)		ACCACGGACTTGCGAATGCTA	0.498000														26			20		0	0	0.012319	0	0
PDZD3	79849	broad.mit.edu	37	11	119059486	119059487	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:119059486_119059487CC>TT	uc001pwb.3	+	6	1919_1920	c.1395_1396CC>TT	c.(1393-1398)tcccga>tcTTga	p.R466*	PDZD3_uc001pvz.3_Nonsense_Mutation_p.R400*|PDZD3_uc010rzd.2_Nonsense_Mutation_p.R387*|PDZD3_uc001pvy.3_Nonsense_Mutation_p.R386*|PDZD3_uc001pwa.3_Nonsense_Mutation_p.R96*			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	466					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding	p.S385S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CTCTTGGCTCCCGACAGTGCTT	0.619000														44			42		0	0	0.004672	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871782	51871782	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:51871782C>T	uc002xwo.3	+	1	2672	c.1785C>T	c.(1783-1785)gcC>gcT	p.A595A	TSHZ2_uc021wex.1_Silent_p.A592A	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	595					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A595A(2)|p.A595S(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CACACCTGGCCCCTTACACTC	0.517000														39			45		0	0	0.010771	0	0
PRKACA	5566	broad.mit.edu	37	19	14208443	14208443	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:14208443C>A	uc002myc.3	-	6	790	c.590G>T	c.(589-591)tGg>tTg	p.W197L	PRKACA_uc002myb.3_Missense_Mutation_p.W189L|PRKACA_uc010xnm.1_Missense_Mutation_p.W139L|PRKACA_uc002myd.3_Missense_Mutation_p.W139L	NM_002730	NP_002721	P17612	KAPCA_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, alpha (PRKACA), transcript variant 1, mRNA.	197	Protein kinase.				G2/M transition of mitotic cell cycle|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GCACAAGGTCCAAGTGCGGCC	0.637000														37			27		4.7796e-09	5.0332e-09	0.004656	1	0
MCC	4163	broad.mit.edu	37	5	112399763	112399763	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:112399763C>T	uc003kql.4	-	13	2547	c.2131G>A	c.(2131-2133)Gac>Aac	p.D711N	MCC_uc003kqj.4_Missense_Mutation_p.D521N|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Missense_Mutation_p.D521N	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	521					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CAGCTGCCGTCCAGCTTCATG	0.607000														10			31		0	0	0.013726	0	0
PICALM	8301	broad.mit.edu	37	11	85701401	85701401	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:85701401G>A	uc001pbm.3	-	12	1617	c.1300C>T	c.(1300-1302)Cca>Tca	p.P434S	PICALM_uc001pbl.3_Intron|PICALM_uc001pbn.3_Missense_Mutation_p.P427S|PICALM_uc010rtl.2_Intron|PICALM_uc010rtk.2_Intron|PICALM_uc001pbo.1_Missense_Mutation_p.P66S	NM_007166	NP_009097	Q13492	PICAL_HUMAN	Homo sapiens phosphatidylinositol binding clathrin assembly protein (PICALM), transcript variant 1, mRNA.	434					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	Golgi apparatus|clathrin coat|clathrin-coated vesicle|coated pit|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TTTAAGCTTGGAATGGCATCA	0.353000			T	"""MLLT10, MLL"""	"""TALL, AML, """									35			22		0	0	0.014323	0	0
SLC9C2	284525	broad.mit.edu	37	1	173494046	173494046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:173494046G>A	uc001giz.2	-	19	2809	c.2386C>T	c.(2386-2388)Cgt>Tgt	p.R796C	SLC9C2_uc009wwe.2_Missense_Mutation_p.R354C|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	796					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ACAACATCACGACCCTCATGC	0.348000														35			28		0	0	0.006320	0	0
DOCK3	1795	broad.mit.edu	37	3	51264789	51264789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:51264789C>T	uc011bds.2	+	15	1476	c.1453C>T	c.(1453-1455)Cct>Tct	p.P485S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	485	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGTAATAGTCCTCGCTGGGG	0.468000														61			52		0	0	0.014410	0	0
ATP12A	479	broad.mit.edu	37	13	25281489	25281489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:25281489C>T	uc010aaa.3	+	16	2762	c.2429C>T	c.(2428-2430)cCc>cTc	p.P810L	ATP12A_uc001upp.3_Missense_Mutation_p.P804L	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	804					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GAGCTGTGCCCCTTTCTGATC	0.498000														66			65		0	0	0.014410	0	0
CAMK1D	57118	broad.mit.edu	37	10	12708735	12708735	+	Splice_Site	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:12708735G>A	uc001ilo.3	+	3	460	c.225_splice	c.e3-1	p.K75_splice	CAMK1D_uc001iln.3_Splice_Site_p.K75_splice	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	75	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TTTTTTTCAGGATTAAGCATG	0.343000														211			159		0	0	0.014410	0	0
SDK1	221935	broad.mit.edu	37	7	4091411	4091412	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:4091411_4091412CC>TT	uc003smx.3	+	18	2999_3000	c.2860_2861CC>TT	c.(2860-2862)cct>TTt	p.P954F	SDK1_uc010kso.3_Missense_Mutation_p.P230F	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	954	Fibronectin type-III 3.				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)		CTTCACCACCCCTGGGGACGGG	0.525000														69			42		0	0	0.004672	0	0
HYDIN	54768	broad.mit.edu	37	16	71015379	71015379	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:71015379G>A	uc002ezr.3	-	28	4573	c.4422C>T	c.(4420-4422)atC>atT	p.I1474I		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1475										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)				CCAGGTGGGCGATCTGTATCT	0.478000														61			32		0	0	0.011902	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552480	140552480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:140552480G>A	uc003lit.3	+	0	238	c.64G>A	c.(64-66)Gga>Aga	p.G22R		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	22					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTATTTCTGGGAATGTCTTG	0.483000														10			30		0	0	0.009535	0	0
FNDC3B	64778	broad.mit.edu	37	3	171965375	171965375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:171965375C>T	uc003fhy.3	+	4	489	c.317C>T	c.(316-318)cCt>cTt	p.P106L	FNDC3B_uc003fhz.4_Missense_Mutation_p.P106L|FNDC3B_uc003fia.3_Missense_Mutation_p.P37L	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	106						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCCCAGTCTCCTGAGTGTTAT	0.483000														70			68		0	0	0.014410	0	0
WDR36	134430	broad.mit.edu	37	5	110446899	110446899	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:110446899C>T	uc003kpd.3	+	14	1923	c.1806C>T	c.(1804-1806)ttC>ttT	p.F602F	WDR36_uc010jbu.3_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	Homo sapiens WD repeat domain 36 (WDR36), mRNA.	602					rRNA processing|response to stimulus|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TGGATGACTTCTCCATTAGTG	0.378000														25			103		0	0	0.014410	0	0
KIF2B	84643	broad.mit.edu	37	17	51902255	51902255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:51902255G>A	uc002iua.2	+	0	2017	c.1861G>A	c.(1861-1863)Gaa>Aaa	p.E621K	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	621					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						CCAATGGCTGGAAAACATCCA	0.453000														49			40		0	0	0.009718	0	0
DPH1	1801	broad.mit.edu	37	17	1943100	1943100	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:1943100C>T	uc010vqs.2	+	5	783	c.777C>T	c.(775-777)ccC>ccT	p.P259P	DPH1_uc002fts.3_Silent_p.P249P|DPH1_uc002ftt.3_Silent_p.P233P|DPH1_uc010cjx.3_Silent_p.P109P|DPH1_uc002ftv.3_Silent_p.P5P|DPH1_uc002ftw.3_5'Flank|OVCA2_uc002ftx.3_5'Flank	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.	249					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						TTGCCAACCCCAATGTCCCCG	0.592000														77			57		0	0	0.014410	0	0
DHRS7C	201140	broad.mit.edu	37	17	9680581	9680581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:9680581G>A	uc010vvb.2	-	3	516	c.503C>T	c.(502-504)tCc>tTc	p.S168F	DHRS7C_uc010cof.3_Missense_Mutation_p.S167F	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	168						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TGTTCTCCGGGAGATCATGTT	0.473000														13			8		0	0	0.004482	0	0
INSR	3643	broad.mit.edu	37	19	7267510	7267510	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:7267510G>A	uc002mgd.1	-	1	607	c.498C>T	c.(496-498)tcC>tcT	p.S166S	INSR_uc002mge.1_Silent_p.S166S|INSR_uc002mgf.3_Silent_p.S166S	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	166					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TATCCTCCACGGAATCCAGGA	0.532000														430			305		0	0	0.014410	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912524	77912524	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:77912524G>A	uc022bzi.1	-	0	1394	c.1394C>T	c.(1393-1395)gCc>gTc	p.A465V	ZCCHC5_uc004edc.1_Missense_Mutation_p.A465V	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	465							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						CGCCTGCAGGGCCTGATGAGG	0.542000														1			14		0	0	0.004007	0	0
VWA3B	200403	broad.mit.edu	37	2	98744845	98744845	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:98744845G>A	uc002syo.3	+	5	1110	c.846G>A	c.(844-846)aaG>aaA	p.K282K	VWA3B_uc010yvh.2_Silent_p.K132K|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.3_Silent_p.K282K|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	282										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTTTTCTAAAGGATCTGAGTG	0.527000														28			21		0	0	0.002780	0	0
DCC	1630	broad.mit.edu	37	18	51025821	51025821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:51025821C>T	uc002lfe.2	+	26	4668	c.4052C>T	c.(4051-4053)cCt>cTt	p.P1351L	DCC_uc010dpf.2_Missense_Mutation_p.P984L	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1351					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.L1350I(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCTTTGCTACCTCCACCAATG	0.473000														55			42		0	0	0.014410	0	0
TMEM67	91147	broad.mit.edu	37	8	94794663	94794663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:94794663C>T	uc011lgk.2	+	10	1177	c.1106C>T	c.(1105-1107)tCa>tTa	p.S369L	TMEM67_uc010mat.1_Missense_Mutation_p.S284L|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.4_Missense_Mutation_p.S288L	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	369					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GCTGCTTATTCATTTGGAACA	0.303000														23			24		0	0	0.005443	0	0
UNC79	57578	broad.mit.edu	37	14	94088518	94088518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:94088518G>A	uc001ybv.1	+	27	4557	c.4474G>A	c.(4474-4476)Gaa>Aaa	p.E1492K	UNC79_uc001ybs.1_Missense_Mutation_p.E1470K	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1647						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CGAGAGTGACGAAGAAGAGGA	0.552000														43			37		0	0	0.003271	0	0
OR8K5	219453	broad.mit.edu	37	11	55927659	55927659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:55927659C>T	uc010rja.2	-	0	135	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TCAAAATGATCATAGTTAGGT	0.428000														46			26		0	0	0.003330	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324524	61324524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:61324524C>T	uc002lji.3	-	5	736	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	SERPINB3_uc002ljg.3_Missense_Mutation_p.E198K|SERPINB3_uc010dqa.3_Missense_Mutation_p.E198K	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	198					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.E197Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CAAAATTTTTCCTCTTTAGTA	0.294000														13			19		0	0	0.006122	0	0
MMP26	56547	broad.mit.edu	37	11	5012670	5012670	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:5012670G>A	uc001lzv.3	+	3	557	c.539G>A	c.(538-540)gGa>gAa	p.G180E		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	180					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G180E(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCAAATTCTGGAAATCCTGGA	0.473000														105			61		0	0	0.014410	0	0
TMEM179	388021	broad.mit.edu	37	14	105061533	105061533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:105061533G>A	uc001yox.1	-	2	510	c.491C>T	c.(490-492)tCc>tTc	p.S164F		NM_207379	NP_997262	Q6ZVK1	T179A_HUMAN	Homo sapiens transmembrane protein 179 (TMEM179), mRNA.	164						integral to membrane		p.S164C(2)		endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		GTAGAAGGCGGAGTTGTCCAC	0.582000														39			29		0	0	0.010818	0	0
CAND1	55832	broad.mit.edu	37	12	67691613	67691613	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:67691613C>T	uc001stn.2	+	5	1271	c.834C>T	c.(832-834)gcC>gcT	p.A278A	CAND1_uc001sto.2_5'Flank	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	278					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GTATTCAAGCCTTTGAATCAT	0.303000														23			14		0	0	0.003163	0	0
FAM169B	283777	broad.mit.edu	37	15	98995102	98995102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:98995102C>T	uc002buk.1	-	4	572	c.322G>A	c.(322-324)Gag>Aag	p.E108K		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	Homo sapiens family with sequence similarity 169, member B (FAM169B), mRNA.	108										large_intestine(3)|lung(3)|urinary_tract(1)	7						CCCAGGGCCTCGTCCTCTGGG	0.557000														19			14		0	0	0.003163	0	0
RNASE9	390443	broad.mit.edu	37	14	21025022	21025022	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:21025022G>A	uc010ahp.3	-	4	477	c.222C>T	c.(220-222)gtC>gtT	p.V74V	RNASE9_uc010aho.3_Silent_p.V69V|RNASE9_uc001vxq.4_Silent_p.V74V|RNASE9_uc010ahq.3_Silent_p.V74V|RNASE9_uc010ahr.3_Silent_p.V74V|RNASE9_uc010ahs.3_Silent_p.V69V|RNASE9_uc010aht.3_Silent_p.V69V|RNASE9_uc010ahu.3_Silent_p.V69V|RNASE9_uc021rnt.1_Silent_p.V69V	NM_001110359	NP_001103827	P60153	RNAS9_HUMAN	Homo sapiens ribonuclease, RNase A family, 9 (non-active) (RNASE9), transcript variant 1, mRNA.	69						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		GTTCAATAAGGACACGTCTTT	0.373000														69			43		0	0	0.011902	0	0
KIAA1468	57614	broad.mit.edu	37	18	59895792	59895792	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:59895792T>A	uc002lil.3	+	7	1624	c.1409T>A	c.(1408-1410)cTa>cAa	p.L470Q	KIAA1468_uc002lik.1_Missense_Mutation_p.L470Q|KIAA1468_uc010xel.2_Missense_Mutation_p.L470Q|KIAA1468_uc002lim.3_Missense_Mutation_p.L114Q	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	470							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CCTTCTTCTCTATCAAGTAAA	0.358000														16			13		0	0	0.001855	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466990	50466990	+	Missense_Mutation	SNP	T	C	C	rs144184696	by1000genomes	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:50466990T>C	uc001vdk.2	+	0	2446	c.2264T>C	c.(2263-2265)cTg>cCg	p.L755P						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		GTCTGTCCACTGAGGGGTTTT	0.517000														52			5		0	0	0.001984	0	0
RANBP10	57610	broad.mit.edu	37	16	67763685	67763685	+	Silent	SNP	G	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:67763685G>T	uc002eud.3	-	8	1161	c.1045C>A	c.(1045-1047)Cga>Aga	p.R349R	RANBP10_uc010ceo.3_Silent_p.R120R|RANBP10_uc010vju.2_Silent_p.R293R|RANBP10_uc010vjv.2_Silent_p.R232R|RANBP10_uc010vjw.1_Silent_p.R10R	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	349	Ser-rich.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CTCAAACTTCGGACCTCACTG	0.602000														70			63		2.60599e-31	2.80737e-31	0.014410	1	0
ADAM2	2515	broad.mit.edu	37	8	39645760	39645760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:39645760G>A	uc003xnj.3	-	8	728	c.653C>T	c.(652-654)tCa>tTa	p.S218L	ADAM2_uc003xnk.3_Missense_Mutation_p.S199L|ADAM2_uc011lck.2_Missense_Mutation_p.S218L|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	218	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AATATTAAATGAAACAAAAAT	0.239000														17			4		0	0	0.000602	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627525	21627525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:21627525G>A	uc004czx.2	+	19	2962	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K	CNKSR2_uc004czw.3_Missense_Mutation_p.E828K|CNKSR2_uc011mjn.2_Missense_Mutation_p.E779K|CNKSR2_uc011mjo.2_Missense_Mutation_p.E798K|CNKSR2_uc004czy.3_Missense_Mutation_p.E420K	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	828					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						CCCCTTAGCTGAGAGTGAGAG	0.552000														2			38		0	0	0.008740	0	0
FKBP5	2289	broad.mit.edu	37	6	35558992	35558992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:35558992C>T	uc011dte.1	-	6	874	c.671G>A	c.(670-672)gGt>gAt	p.G224D	FKBP5_uc003okx.2_Missense_Mutation_p.G224D|FKBP5_uc011dtf.1_Missense_Mutation_p.G45D|FKBP5_uc003oky.2_Missense_Mutation_p.G224D|FKBP5_uc003okz.2_Intron	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	224	PPIase FKBP-type 2.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CTCTCCAAAACCATATCTGAA	0.363000														4			67		0	0	0.014410	0	0
SCN2A	6326	broad.mit.edu	37	2	166201069	166201069	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:166201069G>A	uc002udc.3	+	15	2857	c.2567G>A	c.(2566-2568)cGa>cAa	p.R856Q	SCN2A_uc002udd.3_Missense_Mutation_p.R856Q|SCN2A_uc002ude.3_Missense_Mutation_p.R856Q	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	856					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTCCAGCTCCGAGTTTTCAAG	0.318000														20			18		0	0	0.004990	0	0
NMBR	4829	broad.mit.edu	37	6	142409773	142409773	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:142409773T>C	uc003qiu.3	-	0	164	c.23A>G	c.(22-24)aAc>aGc	p.N8S		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	8					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CACCGAGAGGTTGGAAAGAGA	0.607000														26			15		0	0	0.004007	0	0
LOC341056	341056	broad.mit.edu	37	11	122889045	122889045	+	RNA	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:122889045G>A	uc010rzt.2	+	0		c.772G>A								Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA.																		AGGCTGCTCTGAAGCGCACGA	0.507000														17			10		0	0	0.001855	0	0
NIT2	56954	broad.mit.edu	37	3	100073618	100073618	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:100073618G>A	uc003dtv.3	+	8	760	c.686G>A	c.(685-687)gGg>gAg	p.G229E		NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	Homo sapiens nitrilase family, member 2 (NIT2), mRNA.	229	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						TTTTTCAGGGGGGAGGTTCTA	0.453000														29			26		0	0	0.004656	0	0
TYW5	129450	broad.mit.edu	37	2	200800763	200800763	+	Silent	SNP	T	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:200800763T>C	uc002uvi.4	-	6	848	c.582A>G	c.(580-582)aaA>aaG	p.K194K	TYW5_uc002uvj.4_Silent_p.K31K|TYW5_uc002uvk.4_Non-coding_Transcript|TYW5_uc010fss.3_Silent_p.K31K	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN	Homo sapiens tRNA-yW synthesizing protein 5 (TYW5), transcript variant 1, mRNA.	194	JmjC.				wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						GTACTTCTGATTTAGTACCTA	0.284000														49			41		0	0	0.014410	0	0
FBXW10	10517	broad.mit.edu	37	17	18654336	18654336	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:18654336G>A	uc002gul.3	+	3	1411	c.1179G>A	c.(1177-1179)gtG>gtA	p.V393V	FBXW10_uc002guj.3_Silent_p.V364V|FBXW10_uc002guk.3_Silent_p.V364V|FBXW10_uc010cqh.2_Silent_p.V364V	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	364										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GCATGCGTGTGAAACATCCGA	0.463000														106			62		0	0	0.014410	0	0
ZNF385C	201181	broad.mit.edu	37	17	40178933	40178933	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:40178933G>A	uc021txr.1	-	7	1257	c.1257C>T	c.(1255-1257)atC>atT	p.I419I		NM_001242704	NP_001229633			Homo sapiens zinc finger protein 385C (ZNF385C), mRNA.											lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	3		all_cancers(22;0.00127)|Breast(137;0.00104)|all_epithelial(22;0.0126)				GGGCAAGGACGATAGGTCCTG	0.602000														10			7		0	0	0.001984	0	0
ALPK1	80216	broad.mit.edu	37	4	113352004	113352004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:113352004C>T	uc003ian.4	+	10	1528	c.1301C>T	c.(1300-1302)cCc>cTc	p.P434L	ALPK1_uc003iap.4_Missense_Mutation_p.P434L|ALPK1_uc011cfx.2_Missense_Mutation_p.P356L|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.P262L	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	434							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCTTATGTTCCCGAGAGTTTC	0.423000														29			32		0	0	0.009535	0	0
RELN	5649	broad.mit.edu	37	7	103197509	103197509	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:103197509C>T	uc022ajr.1	-	37	5872	c.5712G>A	c.(5710-5712)acG>acA	p.T1904T	RELN_uc022ajq.1_Silent_p.T1904T|RELN_uc010liz.3_Silent_p.T1904T	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1904					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)		AAAGTATATTCGTTGTTTGAG	0.403000														35			26		0	0	0.003954	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72017247	72017247	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:72017247G>C	uc001swo.2	-	23	4996	c.4637C>G	c.(4636-4638)tCt>tGt	p.S1546C		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	1546					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATTATCATTAGATGGATCATA	0.353000														28			14		0	0	0.003163	0	0
KRT9	3857	broad.mit.edu	37	17	39728108	39728108	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:39728108C>T	uc002hxe.4	-	0	203	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	46	Head.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	p.R46L(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				AGAGCTGAATCGGCCCCCTCC	0.682000														5			4		0	0	0.009096	0	0
C9orf86	55684	broad.mit.edu	37	9	139722973	139722973	+	Nonsense_Mutation	SNP	T	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:139722973T>G	uc004cjj.1	+	3	798	c.341T>G	c.(340-342)tTa>tGa	p.L114*	C9orf86_uc004cjm.2_Nonsense_Mutation_p.L114*|C9orf86_uc004cjh.3_Nonsense_Mutation_p.L114*|C9orf86_uc004cji.1_Nonsense_Mutation_p.L114*|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_5'UTR|MIR4292_uc022bpu.1_5'Flank	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN	Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.	114	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding			endometrium(4)|kidney(1)|lung(4)	9	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		GGCGACGGCTTAAAGATGGAG	0.572000														24			19		0	0	0.012319	0	0
PPYR1	5540	broad.mit.edu	37	10	47087158	47087158	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:47087158G>A	uc001jee.3	+	2	794	c.375G>A	c.(373-375)gtG>gtA	p.V125V	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.V125V|PPYR1_uc021ppu.1_Silent_p.V125V	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	125					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCATGTCGGTGACGGTCTCCA	0.592000														272			40		0	0	0.013114	0	0
OR8S1	341568	broad.mit.edu	37	12	48920048	48920048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:48920048C>T	uc010slu.2	+	0	634	c.634C>T	c.(634-636)Ctt>Ttt	p.L212F		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F211F(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GGGAAACTTCCTTTTGGTCTT	0.532000														38			21		0	0	0.012319	0	0
FBXL4	26235	broad.mit.edu	37	6	99374369	99374370	+	Missense_Mutation	DNP	GA	AG	AG			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:99374369_99374370GA>AG	uc003ppf.1	-	2	853_854	c.495_496TC>CT	c.(493-498)aatcca>aaCTca	p.P166S	FBXL4_uc003ppg.1_Missense_Mutation_p.P166S|FBXL4_uc003pph.1_5'UTR	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 4 (FBXL4), mRNA.	166					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TCAGCTGGTGGATTTGGGGAAT	0.366000														42			19		0	0	0.004672	0	0
FAT4	79633	broad.mit.edu	37	4	126241707	126241707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:126241707G>A	uc003ifj.4	+	0	4141	c.4141G>A	c.(4141-4143)Gaa>Aaa	p.E1381K		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1381	Cadherin 13.				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						ACTGGACTTTGAAACACAGTC	0.368000														82			34		0	0	0.013726	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127855	117127855	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:117127855G>A	uc003pxj.1	-	2	1035	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.S338F	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	338					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTGAAGAAAGGAATGGAAAGA	0.408000														36			26		0	0	0.003954	0	0
SUOX	6821	broad.mit.edu	37	12	56397533	56397533	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:56397533G>A	uc001six.3	+	5	686	c.360G>A	c.(358-360)ggG>ggA	p.G120G	SUOX_uc001siy.3_Silent_p.G120G|SUOX_uc001siz.3_Silent_p.G120G|SUOX_uc001sja.3_Silent_p.G120G	NM_000456	NP_001027559	P51687	SUOX_HUMAN	Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	120	Cytochrome b5 heme-binding.					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			TACATCCAGGGGGGCCTTCAA	0.567000														60			47		0	0	0.014410	0	0
INO80	54617	broad.mit.edu	37	15	41372096	41372096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:41372096G>A	uc001zni.3	-	8	1147	c.934C>T	c.(934-936)Cac>Tac	p.H312Y	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	312	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			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						ATGCACTGGTGAGCAAGCTGA	0.527000														89			57		0	0	0.014410	0	0
ADAM11	4185	broad.mit.edu	37	17	42849142	42849142	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:42849142G>A	uc002ihh.3	+	5	486	c.486G>A	c.(484-486)ggG>ggA	p.G162G	ADAM11_uc010wjd.2_5'UTR	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	162					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				TCTCTGATGGGAACTTGACTT	0.652000														33			25		0	0	0.004656	0	0
SPATA17	128153	broad.mit.edu	37	1	217975134	217975134	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:217975134C>T	uc001hlh.1	+	8	973	c.947C>T	c.(946-948)cCt>cTt	p.P316L		NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	316						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AAGTATGGTCCTATTTCTTAC	0.294000														13			12		0	0	0.003163	0	0
ZC4H2	55906	broad.mit.edu	37	X	64139046	64139046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:64139046G>A	uc004dvu.3	-	3	593	c.437C>T	c.(436-438)cCt>cTt	p.P146L	ZC4H2_uc004dvv.3_Missense_Mutation_p.P123L|ZC4H2_uc022byd.1_Missense_Mutation_p.P123L|ZC4H2_uc022byc.1_Missense_Mutation_p.P123L|ZC4H2_uc011mow.2_Intron|ZC4H2_uc011mov.2_Missense_Mutation_p.P123L|ZC4H2_uc004dvw.2_3'UTR	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	146							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGGCTCCTGAGGTTCTGTCTG	0.552000														3			24		0	0	0.007291	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103057112	103057112	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:103057112A>C	uc001phn.1	+	41	6919	c.6775A>C	c.(6775-6777)Act>Cct	p.T2259P	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.T2259P	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2259	AAA 3 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TAACGGCTTAACTCTTCCAGT	0.418000														26			31		0	0	0.012213	0	0
MYOM1	8736	broad.mit.edu	37	18	3090697	3090697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:3090697C>T	uc002klp.3	-	26	4302	c.3968G>A	c.(3967-3969)gGa>gAa	p.G1323E	MYOM1_uc002klq.3_Missense_Mutation_p.G1227E	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1323						striated muscle myosin thick filament	structural constituent of muscle	p.D1322H(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGTTGCTTTTCCATCTTGAAG	0.418000														51			45		0	0	0.014410	0	0
FAT3	120114	broad.mit.edu	37	11	92599969	92599969	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:92599969C>T	uc001pdj.4	+	20	11738	c.11721C>T	c.(11719-11721)atC>atT	p.I3907I	FAT3_uc001pdi.4_Silent_p.I347I	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3907	Laminin G-like.				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)				TCTTGGGCATCTCGGGCCGTG	0.602000										TCGA Ovarian(4;0.039)				230			174		0	0	0.014410	0	0
ATP2A2	488	broad.mit.edu	37	12	110719708	110719708	+	Silent	SNP	C	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:110719708C>A	uc001tqk.4	+	0	677	c.114C>A	c.(112-114)tcC>tcA	p.S38S	ATP2A2_uc001tql.4_Silent_p.S38S|JA611269_uc021rds.1_Non-coding_Transcript	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	38					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GATGGGGCTCCAACGGTAGGT	0.677000														11			7		8.12818e-05	8.49831e-05	0.001984	1	0
DPF1	8193	broad.mit.edu	37	19	38709272	38709273	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:38709272_38709273GG>AA	uc021uty.1	-	4	564_565	c.537_538CC>TT	c.(535-540)gacctc>gaTTtc	p.L180F	DPF1_uc002ohm.3_Missense_Mutation_p.L180F|DPF1_uc002ohl.3_Missense_Mutation_p.L180F|DPF1_uc002ohn.3_Missense_Mutation_p.L98F|DPF1_uc010xtw.1_Missense_Mutation_p.L154F	NM_001135155	NP_001128627	Q92782	DPF1_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 1 (DPF1), transcript variant 1, mRNA.	180					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCACCTCGAGGTCATGCGGAA	0.554000														32			26		0	0	0.004672	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976640	47976640	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:47976640G>A	uc011dwm.2	-	1	671	c.637C>T	c.(637-639)Cag>Tag	p.Q213*	PTCHD4_uc011dwn.2_5'UTR|PTCHD4_uc003ozf.2_Nonsense_Mutation_p.Q213*	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	213						integral to membrane	hedgehog receptor activity										GAGTAGAGCTGGAGTTCTTGA	0.522000														31			20		0	0	0.010504	0	0
NINL	22981	broad.mit.edu	37	20	25481560	25481560	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:25481560G>A	uc002wux.1	-	7	1022	c.948C>T	c.(946-948)gaC>gaT	p.D316D	NINL_uc010gdn.1_Silent_p.D316D|NINL_uc010gdo.1_Intron|NINL_uc010ztf.1_Silent_p.D332D	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	316					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CAGAACCATCGTCAATGCTGG	0.582000														28			23		0	0	0.014323	0	0
STK38L	23012	broad.mit.edu	37	12	27475360	27475360	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:27475360C>A	uc001rhr.3	+	13	1566	c.1367C>A	c.(1366-1368)cCc>cAc	p.P456H	STK38L_uc010sjm.2_Missense_Mutation_p.P363H|STK38L_uc010sjn.2_Missense_Mutation_p.P194H|STK38L_uc010sjo.2_Missense_Mutation_p.P121H	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	Homo sapiens serine/threonine kinase 38 like (STK38L), mRNA.	456					intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	ATP binding|actin binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					GGCTCTATCCCCACCTACATG	0.433000														98			49		2.47907e-22	2.65598e-22	0.014410	1	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249145	71249145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:71249145G>A	uc001oqr.1	+	0	75	c.44G>A	c.(43-45)gGg>gAg	p.G15E		NM_021046	NP_066384	O75690	KRA58_HUMAN	Homo sapiens keratin associated protein 5-8 (KRTAP5-8), mRNA.	15						extracellular region|keratin filament	structural constituent of epidermis	p.C14Y(1)		cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TCCGGCTGTGGGGGCTGCGGC	0.652000														82			73		0	0	0.014410	0	0
TECTA	7007	broad.mit.edu	37	11	121023770	121023770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:121023770C>T	uc010rzo.2	+	11	4286	c.4286C>T	c.(4285-4287)tCc>tTc	p.S1429F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1429					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.S1429S(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGCTGCTACTCCGATGGCAAA	0.572000														18			9		0	0	0.004482	0	0
CD5L	922	broad.mit.edu	37	1	157803038	157803038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:157803038C>T	uc001frk.4	-	4	1126	c.983G>A	c.(982-984)aGa>aAa	p.R328K		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	328	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCCCAAAATCTGTGCTGGCA	0.562000														44			50		0	0	0.014410	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000														31			5		0	0	0.000602	0	0
KCNN2	3781	broad.mit.edu	37	5	113740319	113740319	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:113740319T>A	uc003kqo.3	+	2	1224	c.767T>A	c.(766-768)aTt>aAt	p.I256N		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	256						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GATGTGGATATTATTTTATCT	0.438000														6			40		0	0	0.006999	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21457408	21457408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:21457408G>A	uc001rer.3	-	4	793	c.542C>T	c.(541-543)tCc>tTc	p.S181F	SLCO1A2_uc010siq.2_Missense_Mutation_p.S49F|SLCO1A2_uc001res.3_Missense_Mutation_p.S181F|SLCO1A2_uc010sio.2_Missense_Mutation_p.S49F|SLCO1A2_uc010sip.2_Missense_Mutation_p.S49F|SLCO1A2_uc001ret.3_Missense_Mutation_p.S179F|SLCO1A2_uc001reu.2_Missense_Mutation_p.S161F	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	181					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.S181F(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTCTATATAGGAAATACCCAA	0.373000														22			23		0	0	0.012319	0	0
KLF7	8609	broad.mit.edu	37	2	208030259	208030260	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:208030259_208030260CC>TT	uc002vbz.1	-	0	355_356	c.33_34GG>AA	c.(31-36)caggag>caAAag	p.E12K	KLF7_uc002vca.1_Missense_Mutation_p.E12K	NM_003709	NP_003700	O75840	KLF7_HUMAN	Homo sapiens Kruppel-like factor 7 (ubiquitous) (KLF7), mRNA.	12					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		AGTTGTAGCTCCTGGAATATAC	0.510000														73			49		0	0	0.004672	0	0
OR10H2	26538	broad.mit.edu	37	19	15839113	15839113	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:15839113C>T	uc002nbm.2	+	0	280	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	87					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)					GACCTGCTGTCCACCCAGCGC	0.612000														36			16		0	0	0.008871	0	0
TLN2	83660	broad.mit.edu	37	15	63127947	63127947	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:63127947C>T	uc002alb.4	+	52	7140	c.7140C>T	c.(7138-7140)atC>atT	p.I2380I	TLN2_uc002alc.4_Silent_p.I773I|TLN2_uc010uic.2_5'UTR|AK125516_uc002ale.1_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2380	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGGGCTCCATCCCTGCCAATG	0.597000														99			59		0	0	0.014410	0	0
TPTE2	93492	broad.mit.edu	37	13	20038604	20038604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:20038604G>A	uc001umd.3	-	10	944	c.733C>T	c.(733-735)Cca>Tca	p.P245S	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.P134S|TPTE2_uc001ume.3_Missense_Mutation_p.P168S|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	245	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACCTCAATTGGATTTCTATAG	0.323000														18			27		0	0	0.010818	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067167	11067167	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:11067167C>T	uc010hdq.3	+	7	1158	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	249					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ACCCCTACATCATGCTGATCA	0.572000														27			19		0	0	0.012319	0	0
KITLG	4254	broad.mit.edu	37	12	88912537	88912537	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:88912537G>A	uc001tav.3	-	3	495	c.300C>T	c.(298-300)atC>atT	p.I100I	KITLG_uc009zsn.3_Silent_p.I28I|KITLG_uc001taw.3_Silent_p.I100I|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	100					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						GTTTGTCTATGATGGAATAAT	0.363000									Testicular Cancer, Familial Clustering of					34			24		0	0	0.004656	0	0
F11	2160	broad.mit.edu	37	4	187205274	187205274	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:187205274C>T	uc003iza.1	+	10	1497	c.1164C>T	c.(1162-1164)atC>atT	p.I388I		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	388	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AGCCCAGGATCGTTGGAGGAA	0.517000														42			46		0	0	0.014410	0	0
PIK3R6	146850	broad.mit.edu	37	17	8726803	8726803	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:8726803C>T	uc002glq.1	-	13	1767	c.1527G>A	c.(1525-1527)ctG>ctA	p.L509L	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	509					platelet activation	cytosol											GGGATGTGTCCAGGGAAGGAG	0.532000														9			6		0	0	0.001168	0	0
GON4L	54856	broad.mit.edu	37	1	155742989	155742989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:155742989G>A	uc001flz.2	-	17	2460	c.2363C>T	c.(2362-2364)cCc>cTc	p.P788L	GON4L_uc021paz.1_Intron|GON4L_uc001fly.1_Missense_Mutation_p.P788L|GON4L_uc009wrh.1_Missense_Mutation_p.P788L|GON4L_uc001fma.1_Missense_Mutation_p.P788L|GON4L_uc001fmb.4_5'UTR|GON4L_uc001fmc.3_Missense_Mutation_p.P788L|GON4L_uc001fmd.4_Missense_Mutation_p.P788L|GON4L_uc009wri.3_Missense_Mutation_p.P374L	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	788					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGGCAAACAGGGAAATTCATT	0.408000														30			17		0	0	0.006122	0	0
COL27A1	85301	broad.mit.edu	37	9	117072929	117072929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:117072929C>T	uc011lxl.2	+	60	5537	c.5537C>T	c.(5536-5538)tCa>tTa	p.S1846L	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_Missense_Mutation_p.S161L	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1846	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCTGCCTCATCAGGGAAGCAG	0.602000														42			35		0	0	0.003755	0	0
ITIH6	347365	broad.mit.edu	37	X	54783453	54783453	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:54783453G>A	uc004dtj.2	-	7	3084	c.3054C>T	c.(3052-3054)ttC>ttT	p.F1018F		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	1018					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AGGACTCCACGAACTTGGATT	0.522000														1			13		0	0	0.003163	0	0
C1orf131	128061	broad.mit.edu	37	1	231362502	231362503	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:231362502_231362503CC>TT	uc001hul.3	-	4	712_713	c.675_676GG>AA	c.(673-678)aaggaa>aaAAaa	p.E226K	C1orf131_uc001hum.3_Missense_Mutation_p.E225K|C1orf131_uc001hun.1_Missense_Mutation_p.E226K|C1orf131_uc010pwd.1_Missense_Mutation_p.E225K	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN	Homo sapiens chromosome 1 open reading frame 131 (C1orf131), mRNA.	226	Lys-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTTTCTTCTTCCTTTGCTGCCT	0.406000														54			30		0	0	0.004672	0	0
CCDC11	220136	broad.mit.edu	37	18	47769285	47769285	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:47769285G>A	uc002lee.2	-	5	1289	c.1198C>T	c.(1198-1200)Caa>Taa	p.Q400*		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	400										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCTTGAACTTGAAGTTTTCTT	0.368000														69			59		0	0	0.014410	0	0
POLA2	23649	broad.mit.edu	37	11	65046214	65046214	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:65046214C>T	uc001odj.3	+	5	807	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	POLA2_uc009yqf.1_Nonsense_Mutation_p.Q159*|POLA2_uc010rod.1_5'UTR|POLA2_uc001odk.3_5'Flank	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA.	159					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TACTCCCTCCCAGAAATACAA	0.443000														74			63		0	0	0.014410	0	0
C19orf21	126353	broad.mit.edu	37	19	757502	757502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:757502G>A	uc002lpo.3	+	1	639	c.556G>A	c.(556-558)Gtt>Att	p.V186I		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	186										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		GGAGAACGTGGTTGACAGGGA	0.672000														15			11		0	0	0.008291	0	0
C1orf106	55765	broad.mit.edu	37	1	200868693	200868693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:200868693G>A	uc001gvo.3	+	2	445	c.403G>A	c.(403-405)Gag>Aag	p.E135K	C1orf106_uc010ppm.2_Missense_Mutation_p.E50K	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	135										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GGCCTGCCTGGAGGAGCTGAG	0.647000														8			7		0	0	0.003080	0	0
MIR197	406974	broad.mit.edu	37	1	110141570	110141570	+	RNA	SNP	C	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:110141570C>A	uc010ovq.1	+	0		c.56C>A								Homo sapiens microRNA 197 (MIR197), microRNA.																		CCTTCACCACCTTCTCCACCC	0.567000														47			33		8.4185e-14	8.94561e-14	0.012213	1	0
OR7E5P	219445	broad.mit.edu	37	11	55747404	55747404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:55747404G>A	uc010riu.1	-	3	608	c.53C>T	c.(52-54)tCt>tTt	p.S18F						Homo sapiens olfactory receptor, family 7, subfamily E, member 5 pseudogene (OR7E5P), non-coding RNA.											breast(1)|kidney(1)|lung(5)	7						GTGGGAGTCAGAGCCGATGGC	0.582000														14			11		0	0	0.010729	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455537	84455537	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:84455537C>A	uc001vlk.3	-	0	992	c.106G>T	c.(106-108)Ggg>Tgg	p.G36W		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	36	LRRNT.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTAGGTCCCCTTCTATCTCA	0.468000														40			31		5.91797e-21	6.32871e-21	0.012213	1	0
GLB1L	79411	broad.mit.edu	37	2	220104815	220104816	+	Splice_Site	DNP	AC	TT	TT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:220104815_220104816AC>TT	uc002vkm.3	-	7	786	c.547_splice	c.e7-1	p.V183_splice	GLB1L_uc002vkk.3_Intron|GLB1L_uc010zkx.2_Intron|GLB1L_uc002vkn.3_Splice_Site_p.V183_splice	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	183					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCATTCTCCACCTGCCAGAGG	0.540000														26			21		0	0	0.004672	0	0
SOS1	6654	broad.mit.edu	37	2	39285889	39285890	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:39285889_39285890GG>AA	uc002rrk.4	-	2	310_311	c.269_270CC>TT	c.(268-270)gcc>gTT	p.A90V	SOS1_uc010ynr.1_Non-coding_Transcript	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	90					Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding	p.A90A(2)|p.A90T(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TAGCTGATTGGGCATCAGCTAT	0.342000									Noonan syndrome					22			31		0	0	0.004672	0	0
MBD5	55777	broad.mit.edu	37	2	149248107	149248107	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:149248107T>A	uc002twm.4	+	11	5204	c.4207T>A	c.(4207-4209)Tta>Ata	p.L1403I	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Missense_Mutation_p.L661I|MBD5_uc002twp.3_Missense_Mutation_p.L453I	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1403	PWWP.					chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCCTGGAAAATTAGTAAGAGA	0.428000														36			38		0	0	0.004878	0	0
PRKACG	5568	broad.mit.edu	37	9	71628256	71628256	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:71628256G>A	uc004agy.3	-	0	784	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	251	Protein kinase.		I -> N.		activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TCCCAGAGACGATCTTCTCGT	0.612000														35			36		0	0	0.005524	0	0
OR51I1	390063	broad.mit.edu	37	11	5461959	5461959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:5461959C>T	uc010qze.2	-	0	825	c.786G>A	c.(784-786)atG>atA	p.M262I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCGGTGAATCATGGAGACAG	0.483000														41			28		0	0	0.007291	0	0
GALNT2	2590	broad.mit.edu	37	1	230398393	230398393	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:230398393G>C	uc010pwa.1	+	11	1283	c.1211G>C	c.(1210-1212)aGa>aCa	p.R404T	GALNT2_uc010pvy.1_Missense_Mutation_p.R366T|GALNT2_uc010pvz.1_Non-coding_Transcript|GALNT2_uc001htu.2_Missense_Mutation_p.R16T	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	404					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CCTTCTGCTAGAAACGTTCCT	0.488000														135			91		0	0	0.014410	0	0
ZNF337	26152	broad.mit.edu	37	20	25657189	25657189	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:25657189G>A	uc002wva.3	-	3	1257	c.735C>T	c.(733-735)ttC>ttT	p.F245F	ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Silent_p.F213F|ZNF337_uc002wvc.3_Silent_p.F245F	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTTGAGGCTGAAGCCTCGCC	0.527000														47			33		0	0	0.010818	0	0
BAAT	570	broad.mit.edu	37	9	104125007	104125007	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:104125007G>A	uc010mtd.3	-	3	1069	c.960C>T	c.(958-960)ttC>ttT	p.F320F	BAAT_uc004bbd.4_Silent_p.F320F	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	320					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CAATGAAGAGGAATTGCCCCT	0.473000														47			41		0	0	0.010771	0	0
ATP8B4	79895	broad.mit.edu	37	15	50215660	50215660	+	Silent	SNP	A	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:50215660A>G	uc001zxu.3	-	16	1816	c.1674T>C	c.(1672-1674)taT>taC	p.Y558Y	ATP8B4_uc010ber.3_Silent_p.Y431Y|ATP8B4_uc010ufd.2_Silent_p.Y368Y|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	558					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)		CTCCTTTGGAATAAAGCTTTA	0.378000														20			13		0	0	0.002450	0	0
BRD4	23476	broad.mit.edu	37	19	15366341	15366341	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:15366341T>A	uc002nar.3	-	9	2036	c.1814A>T	c.(1813-1815)gAc>gTc	p.D605V	BRD4_uc002nas.3_Missense_Mutation_p.D605V|BRD4_uc002nat.3_Missense_Mutation_p.D605V	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	605					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)			CTTGCACTTGTCCTCTTCCTC	0.592000			T	C15orf55	lethal midline carcinoma of young people									73			60		0	0	0.014410	0	0
GDAP2	54834	broad.mit.edu	37	1	118424453	118424453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:118424453G>A	uc001ehf.3	-	11	1593	c.1294C>T	c.(1294-1296)Cgt>Tgt	p.R432C	GDAP2_uc001ehg.3_Missense_Mutation_p.R432C	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN	Homo sapiens ganglioside induced differentiation associated protein 2 (GDAP2), transcript variant 1, mRNA.	432	CRAL-TRIO.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		ACCTTTGAACGAAATGTGGGA	0.328000														6			41		0	0	0.014410	0	0
PDGFRL	5157	broad.mit.edu	37	8	17447138	17447138	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:17447138G>A	uc003wxr.3	+	2	662	c.217G>A	c.(217-219)Gat>Aat	p.D73N		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	73	Ig-like C2-type 1.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		GCAAGTGCTGGATAAAGGTCG	0.507000														40			29		0	0	0.008361	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328984	88328984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:88328984G>A	uc001vln.3	+	1	1560	c.1341G>A	c.(1339-1341)atG>atA	p.M447I	SLITRK5_uc010tic.1_Missense_Mutation_p.M206I|SLITRK5_uc021rlc.1_Missense_Mutation_p.M447I	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	447						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCATCTCGATGATCCAGGACC	0.587000														26			20		0	0	0.014323	0	0
TNC	3371	broad.mit.edu	37	9	117798450	117798450	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:117798450C>T	uc004bjj.4	-	20	5995	c.5583G>A	c.(5581-5583)acG>acA	p.T1861T	TNC_uc010mvf.3_Silent_p.T1588T|TNC_uc022bmj.1_Silent_p.T1498T	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1861	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						GTGTGTATTCCGTGGCAGGCT	0.502000														64			39		0	0	0.006230	0	0
GAK	2580	broad.mit.edu	37	4	906537	906537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:906537C>T	uc003gbm.4	-	2	452	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	GAK_uc003gbn.4_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_Non-coding_Transcript|GAK_uc003gbl.4_5'Flank	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	85	Protein kinase.				cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AAGCAAACTTCTTGAATGATG	0.493000														21			19		0	0	0.007413	0	0
AKAP1	8165	broad.mit.edu	37	17	55187450	55187450	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:55187450C>T	uc010wnl.2	+	3	2061	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	AKAP1_uc002iux.3_Silent_p.F593F|AKAP1_uc021uak.1_Silent_p.F593F|AKAP1_uc010dcm.3_Silent_p.F593F|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	593					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CTGAGAGCTTCCAAAATGCCC	0.562000														63			59		0	0	0.014410	0	0
DTNA	1837	broad.mit.edu	37	18	32459604	32459604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:32459604G>A	uc010dmn.1	+	18	2003	c.2002G>A	c.(2002-2004)Gct>Act	p.A668T	DTNA_uc002kxw.2_Missense_Mutation_p.A611T|DTNA_uc002kxz.2_Missense_Mutation_p.A615T|DTNA_uc002kxy.2_Missense_Mutation_p.A608T|DTNA_uc010dmj.3_Missense_Mutation_p.A608T|DTNA_uc010xby.1_Missense_Mutation_p.A358T|DTNA_uc002kye.3_Missense_Mutation_p.A316T|DTNA_uc010xca.2_Missense_Mutation_p.A320T|DTNA_uc010xbz.2_Missense_Mutation_p.A377T	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	668					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						CTCTGAAAAGGCTTTTCTAGC	0.478000														24			22		0	0	0.002780	0	0
OR11G2	390439	broad.mit.edu	37	14	20665716	20665716	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:20665716C>T	uc010tlb.2	+	0	222	c.222C>T	c.(220-222)ctC>ctT	p.L74L		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTGTTTACCTCCTGACCCTCA	0.567000														46			16		0	0	0.004990	0	0
BEND4	389206	broad.mit.edu	37	4	42119579	42119579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:42119579C>T	uc003gwn.3	-	5	2141	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	BEND4_uc003gwm.3_3'UTR	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	521										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						AAGACTTCATCCTGAGAAGCC	0.527000														11			9		0	0	0.006214	0	0
BCAR1	9564	broad.mit.edu	37	16	75276498	75276498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:75276498G>A	uc002fdv.3	-	1	649	c.503C>T	c.(502-504)cCc>cTc	p.P168L	BCAR1_uc010vna.2_Missense_Mutation_p.P166L|BCAR1_uc010cgu.3_Missense_Mutation_p.P168L|BCAR1_uc010vnb.2_Missense_Mutation_p.P214L|BCAR1_uc002fdw.3_Missense_Mutation_p.P168L|BCAR1_uc010vnc.2_Intron|BCAR1_uc010vnd.2_Missense_Mutation_p.P186L|BCAR1_uc002fdx.3_Missense_Mutation_p.P186L	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	168	Substrate for kinases (By similarity).				B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGGCCCTGGGGGCACCTGGTA	0.637000														70			74		0	0	0.014410	0	0
NOS1	4842	broad.mit.edu	37	12	117685243	117685243	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:117685243C>T	uc001twn.2	-	18	3546	c.2835G>A	c.(2833-2835)ctG>ctA	p.L945L	NOS1_uc021ren.1_Silent_p.L575L|NOS1_uc021reo.1_Silent_p.L575L|NOS1_uc001twm.2_Silent_p.L911L	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	911					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCTCCCCTCCCAGTTCTTCCA	0.557000														55			40		0	0	0.008740	0	0
GPLD1	2822	broad.mit.edu	37	6	24460608	24460608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:24460608C>T	uc003ned.1	-	11	1018	c.907G>A	c.(907-909)Gat>Aat	p.D303N	GPLD1_uc010jpr.1_Missense_Mutation_p.D140N|GPLD1_uc010jps.1_Missense_Mutation_p.D303N	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	303						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTGTGAAAATCATTTTTCTGC	0.363000														11			77		0	0	0.014410	0	0
SCN11A	11280	broad.mit.edu	37	3	38936125	38936125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:38936125C>T	uc021wvy.1	-	14	2933	c.2734G>A	c.(2734-2736)Gat>Aat	p.D912N	SCN11A_uc010hhn.1_Missense_Mutation_p.D28N	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	912					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D912N(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAAGTCCAATCATGCCTGACG	0.507000														80			67		0	0	0.014410	0	0
OR5R1	219479	broad.mit.edu	37	11	56184842	56184842	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:56184842G>A	uc010rji.2	-	0	867	c.867C>T	c.(865-867)atC>atT	p.I289I	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I289F(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TTAGACTATAGATTAGGGGGT	0.358000														51			32		0	0	0.004289	0	0
ODZ4	26011	broad.mit.edu	37	11	78498042	78498042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:78498042C>T	uc001ozl.4	-	15	2729	c.2266G>A	c.(2266-2268)Gac>Aac	p.D756N		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	756	EGF-like 6.				signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GCCCGCTGGTCGCAGGCTGCC	0.697000														2			5		0	0	0.000602	0	0
NKAIN3	286183	broad.mit.edu	37	8	63659634	63659634	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:63659634C>T	uc010lyq.1	+	3	549	c.417C>T	c.(415-417)atC>atT	p.I139I		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA.	139						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				CAGGCTGCATCGTTGACTTCC	0.493000														17			26		0	0	0.004656	0	0
CSMD2	114784	broad.mit.edu	37	1	34049348	34049348	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:34049348G>A	uc001bxm.1	-	46	7311	c.7134C>T	c.(7132-7134)ttC>ttT	p.F2378F	CSMD2_uc001bxn.1_Silent_p.F2380F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2380	CUB 14.					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)				AGCAGGTCTGGAACTGGGGAT	0.502000														58			48		0	0	0.013114	0	0
DSCAM	1826	broad.mit.edu	37	21	41648169	41648169	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr21:41648169A>C	uc002yyq.1	-	10	2663	c.2211T>G	c.(2209-2211)atT>atG	p.I737M	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	737	Ig-like C2-type 8.				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)				CATTTAGGGCAATTGGCTGGA	0.498000														23			17		0	0	0.004990	0	0
TSPAN13	27075	broad.mit.edu	37	7	16823044	16823044	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:16823044C>T	uc003stq.3	+	5	785	c.543C>T	c.(541-543)atC>atT	p.I181I		NM_014399	NP_055214	O95857	TSN13_HUMAN	Homo sapiens tetraspanin 13 (TSPAN13), mRNA.	181						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		CATTCCAGATCCTGGGTGTTT	0.373000														48			36		0	0	0.003271	0	0
FAM53C	51307	broad.mit.edu	37	5	137680697	137680697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:137680697C>T	uc003lcv.3	+	3	790	c.320C>T	c.(319-321)cCt>cTt	p.P107L	FAM53C_uc003lcw.3_Missense_Mutation_p.P107L|FAM53C_uc011cyq.2_Intron|FAM53C_uc011cyr.2_Intron	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	107										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGAAGCTTCCTGTGCCCCCT	0.662000														9			26		0	0	0.004656	0	0
CXorf66	347487	broad.mit.edu	37	X	139038683	139038683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:139038683C>T	uc004fbb.3	-	2	480	c.458G>A	c.(457-459)gGa>gAa	p.G153E		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	153	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						AGTTAACTTTCCTGCACTGTT	0.418000														12			115		0	0	0.014410	0	0
SLC9A2	6549	broad.mit.edu	37	2	103236547	103236547	+	Silent	SNP	C	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:103236547C>A	uc002tca.3	+	0	382	c.240C>A	c.(238-240)atC>atA	p.I80I		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	80						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACGTGCAGATCCCCTTCGAGA	0.642000														24			19		0.000295444	0.000308621	0.014323	1	0
TTN	7273	broad.mit.edu	37	2	179453361	179453361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:179453361C>T	uc021vsy.1	-	252	55612	c.55387G>A	c.(55387-55389)Gac>Aac	p.D18463N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D12158N|TTN_uc021vta.1_Missense_Mutation_p.D12091N|TTN_uc021vtb.1_Missense_Mutation_p.D11966N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19390	Ig-like 106.						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)			TATTCATGGTCTGGGAGGAGA	0.448000														128			81		0	0	0.014410	0	0
SALL4	57167	broad.mit.edu	37	20	50418824	50418824	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:50418824C>T	uc002xwh.4	-	0	225	c.124G>A	c.(124-126)Gag>Aag	p.E42K	SALL4_uc010gii.3_Missense_Mutation_p.E42K|SALL4_uc002xwi.4_Missense_Mutation_p.E42K	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	42					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						TCACCCAGCTcccccgccgcg	0.756000														14			11		0	0	0.010729	0	0
CFH	3075	broad.mit.edu	37	1	196881899	196881899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:196881899G>A	uc001gtp.3	+	6	1164	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	CFH_uc021pgt.1_Missense_Mutation_p.E25K|CFH_uc009wyy.3_Missense_Mutation_p.E342K|CFH_uc001gto.3_Missense_Mutation_p.E96K	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	698	Sushi 6.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TATAGAAATTGAAAATGGATT	0.259000														11			4		0	0	0.001168	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273906	10273906	+	Silent	SNP	G	A	A	rs145961628		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:10273906G>A	uc010uym.2	-	2	673	c.363C>T	c.(361-363)ttC>ttT	p.F121F	GRIN2A_uc002czo.4_Silent_p.F121F|GRIN2A_uc002czr.4_Silent_p.F121F|GRIN2A_uc010buk.3_Silent_p.F121F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	121					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.F121L(2)		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)	AGATGGGGACGAAGGTGTGGG	0.602000														48			39		0	0	0.006999	0	0
SLC2A1	6513	broad.mit.edu	37	1	43392771	43392771	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:43392771G>T	uc001cik.2	-	9	1945	c.1420C>A	c.(1420-1422)Caa>Aaa	p.Q474K		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	474					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TTGTCACTTTGGCTGGCTCCC	0.597000														42			34		1.62565e-12	1.72119e-12	0.012213	1	0
ADH7	131	broad.mit.edu	37	4	100350759	100350759	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:100350759T>C	uc003huv.2	-	1	327	c.86A>G	c.(85-87)gAg>gGg	p.E29G	ADH7_uc021xqj.1_Missense_Mutation_p.E37G	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	29					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TTGCTTCTGCTCCCAAAGCAC	0.413000														12			8		0	0	0.010729	0	0
INPPL1	3636	broad.mit.edu	37	11	71939529	71939530	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:71939529_71939530CC>TT	uc001osf.3	+	2	531_532	c.384_385CC>TT	c.(382-387)gaccgg>gaTTgg	p.R129W	INPPL1_uc001osg.3_5'UTR	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	129					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CACCGGATGACCGGGATGCCTC	0.649000														62			28		0	0	0.004672	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958679	57958679	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:57958679C>T	uc010rka.2	+	0	774	c.717C>T	c.(715-717)tcC>tcT	p.S239S		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				AGACCTTCTCCACCTGCGCCT	0.567000														44			30		0	0	0.009535	0	0
CES3	23491	broad.mit.edu	37	16	67006383	67006383	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:67006383C>T	uc002eqt.3	+	10	1495	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	CES3_uc010cdz.3_Silent_p.F472F|CES3_uc010viw.2_Silent_p.F111F	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	472						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.P471F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GAGGTCCCTTCCTCATGGACG	0.582000														71			44		0	0	0.014410	0	0
MEIS2	4212	broad.mit.edu	37	15	37184640	37184640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:37184640C>T	uc001zjr.3	-	11	2242	c.1168G>A	c.(1168-1170)Gac>Aac	p.D390N	MEIS2_uc001zjl.3_3'UTR|MEIS2_uc010ucj.2_Missense_Mutation_p.D370N|MEIS2_uc001zjm.3_3'UTR|MEIS2_uc001zjn.3_3'UTR|MEIS2_uc001zjo.3_3'UTR|MEIS2_uc001zjp.3_3'UTR|MEIS2_uc001zjs.3_Missense_Mutation_p.D383N|MEIS2_uc001zju.3_3'UTR|MEIS2_uc001zjt.3_Missense_Mutation_p.D383N|MEIS2_uc001zjj.3_Missense_Mutation_p.D86N|MEIS2_uc001zjk.3_Missense_Mutation_p.D79N	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	390					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.G389V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GAAACGTAGTCCCCTGGCATG	0.443000														128			85		0	0	0.014410	0	0
OR2T4	127074	broad.mit.edu	37	1	248525497	248525497	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:248525497G>A	uc001ieh.1	+	0	615	c.615G>A	c.(613-615)gaG>gaA	p.E205E		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			GATCCCGGGAGATTCATCATT	0.498000														96			63		0	0	0.014410	0	0
TCERG1	10915	broad.mit.edu	37	5	145878238	145878238	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:145878238A>G	uc003lob.3	+	15	2411	c.2371A>G	c.(2371-2373)Aga>Gga	p.R791G	TCERG1_uc003loc.3_Missense_Mutation_p.R770G	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	791					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCGAAGACCAGAGGTGAGAA	0.403000														4			14		0	0	0.004990	0	0
IL17RA	23765	broad.mit.edu	37	22	17589371	17589371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:17589371C>T	uc002zly.3	+	12	1393	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	421	SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CAGGCCATCTCGGAGGCAGGA	0.637000														42			31		0	0	0.010818	0	0
FASLG	356	broad.mit.edu	37	1	172634863	172634863	+	Missense_Mutation	SNP	G	A	A	rs80358236		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:172634863G>A	uc001gis.3	+	3	710	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	FASLG_uc001git.3_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	185					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TGTGATCAATGAAACTGGGCT	0.463000														37			39		0	0	0.004289	0	0
MAGEB16	139604	broad.mit.edu	37	X	35821044	35821044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:35821044G>A	uc010ngt.1	+	1	1010	c.731G>A	c.(730-732)gGa>gAa	p.G244E	MAGEB16_uc022bus.1_Missense_Mutation_p.G244E	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	244	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TTCATCTTTGGAGAGCCCAGA	0.488000														0			13		0	0	0.003163	0	0
OR13C8	138802	broad.mit.edu	37	9	107332076	107332076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:107332076C>T	uc011lvo.2	+	0	628	c.628C>T	c.(628-630)Cca>Tca	p.P210S		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCTGGTTATTCCATTGTTAGT	0.388000														58			27		0	0	0.005443	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28476704	28476704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:28476704C>T	uc003ceh.3	+	3	604	c.436C>T	c.(436-438)Cat>Tat	p.H146Y	ZCWPW2_uc003cei.3_Missense_Mutation_p.H146Y|ZCWPW2_uc010hfo.3_5'UTR	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 2 (ZCWPW2), mRNA.	146	PWWP.						zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GGGCGATCCCCATTCAAGATC	0.373000														46			30		0	0	0.009535	0	0
SCN3A	6328	broad.mit.edu	37	2	165948804	165948804	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:165948804C>T	uc002ucx.3	-	26	5259	c.4767G>A	c.(4765-4767)tgG>tgA	p.W1589*	SCN3A_uc010zcy.2_Nonsense_Mutation_p.W72*|SCN3A_uc002ucy.3_Nonsense_Mutation_p.W1540*|SCN3A_uc002ucz.3_Nonsense_Mutation_p.W1540*	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1589						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G1588A(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CAAAGATGTTCCAGCCTATAG	0.433000														37			20		0	0	0.007413	0	0
RIBC2	26150	broad.mit.edu	37	22	45822019	45822019	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:45822019C>T	uc011aqs.2	+	5	1058	c.849C>T	c.(847-849)atC>atT	p.I283I		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA.	216										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGGAGCAGATCCGCCTAGTCC	0.637000														17			20		0	0	0.010504	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503930	140503930	+	Missense_Mutation	SNP	G	A	A	rs140862802		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:140503930G>A	uc003lip.1	+	0	2350	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	784					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.E784K(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAGTTAAGGAAAACCCCAA	0.448000														10			18		0	0	0.008871	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695066	219695067	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:219695066_219695067CC>TT	uc002vjb.1	-	3	286_287	c.267_268GG>AA	c.(265-270)ctggag>ctAAag	p.E90K	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Missense_Mutation_p.E90K|PRKAG3_uc010zko.1_Missense_Mutation_p.E86K	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	90					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATGTGGCCTCCAGCCCGGTGG	0.619000														28			19		0	0	0.004672	0	0
OR14A16	284532	broad.mit.edu	37	1	247978344	247978344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:247978344C>T	uc001idm.1	-	0	688	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GACTGGCCTTCTGTGGAAGGG	0.408000														14			15		0	0	0.004007	0	0
MUC16	94025	broad.mit.edu	37	19	9065029	9065029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:9065029G>A	uc002mkp.3	-	2	22621	c.22417C>T	c.(22417-22419)Cct>Tct	p.P7473S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7475	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						TTTGAGAAAGGATGAATTTTC	0.473000														68			44		0	0	0.013114	0	0
UBASH3A	53347	broad.mit.edu	37	21	43863490	43863490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr21:43863490C>T	uc002zbe.3	+	12	1784	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V	UBASH3A_uc002zbf.3_Missense_Mutation_p.A529V|UBASH3A_uc010gpe.3_Intron|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	567	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						AGGTGCACGGCGAGCATGGTG	0.587000														17			4		0	0	0.009096	0	0
CXCR1	3577	broad.mit.edu	37	2	219029360	219029360	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:219029360C>T	uc021vwq.1	-	0	575	c.575G>A	c.(574-576)gGa>gAa	p.G192E	CXCR1_uc002vhc.3_Missense_Mutation_p.G192E|HV303425_uc021vwr.1_5'Flank	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	192					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TGTGTCATTTCCCAGGACCTC	0.522000														35			25		0	0	0.004656	0	0
UBE2Q2P1	388165	broad.mit.edu	37	15	85098251	85098251	+	RNA	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:85098251G>A	uc002bkn.1	-	1		c.1342C>T								Homo sapiens ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1 (UBE2Q2P1), non-coding RNA.																		GCTTAGGAAGGTTATATAATC	0.378000														7			4		0	0	0.009096	0	0
ZNF648	127665	broad.mit.edu	37	1	182025636	182025636	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:182025636A>T	uc001goz.3	-	1	1718	c.1510T>A	c.(1510-1512)Ttc>Atc	p.F504I	ZNF648_uc021pfu.1_Missense_Mutation_p.F504I	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCACAGAGGAATCCCTTCTCC	0.622000														13			8		0	0	0.006214	0	0
ATP8A2	51761	broad.mit.edu	37	13	26116179	26116179	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:26116179G>A	uc001uqk.3	+	8	916	c.774G>A	c.(772-774)ggG>ggA	p.G258G	ATP8A2_uc010tdi.2_Silent_p.G218G|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_Silent_p.G218G	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	218					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACTTAGATGGGAAAAGGTATT	0.363000														32			11		0	0	0.013537	0	0
INHA	3623	broad.mit.edu	37	2	220440064	220440064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:220440064C>T	uc002vmk.2	+	1	1060	c.917C>T	c.(916-918)cCa>cTa	p.P306L		NM_002191	NP_002182	P05111	INHA_HUMAN	Homo sapiens inhibin, alpha (INHA), mRNA.	306					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|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|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	p.L305R(1)		large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGTCCCTTCCAGTCCCTGGG	0.632000														55			36		0	0	0.003755	0	0
ZNF682	91120	broad.mit.edu	37	19	20117476	20117476	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:20117476G>A	uc002noq.3	-	3	958	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	ZNF682_uc002noo.3_Missense_Mutation_p.H247Y|ZNF682_uc002nop.3_Missense_Mutation_p.H247Y|ZNF682_uc010eck.3_Missense_Mutation_p.H203Y	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TCTCCTGTATGAATTTTCTTA	0.398000														37			34		0	0	0.012213	0	0
OR5H1	26341	broad.mit.edu	37	3	97852045	97852045	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:97852045C>T	uc011bgt.2	+	0	504	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	168					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						GACTAACCTTCTGTAACTCCA	0.328000														36			23		0	0	0.009535	0	0
CWF19L1	55280	broad.mit.edu	37	10	102013297	102013297	+	Splice_Site	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:102013297C>T	uc001kqq.1	-	6	592	c.505_splice	c.e6-1	p.G169_splice	CWF19L1_uc001kqs.1_Splice_Site|CWF19L1_uc001kqr.1_Splice_Site_p.G169_splice|CWF19L1_uc001kqt.1_Splice_Site|CWF19L1_uc010qpn.1_Splice_Site_p.G32_splice	NM_018294	NP_060764	Q69YN2	C19L1_HUMAN	Homo sapiens CWF19-like 1, cell cycle control (S. pombe) (CWF19L1), mRNA.	169							catalytic activity	p.?(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		CCACTTCTCCCTAGTAAACAA	0.338000														38			31		0	0	0.010818	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303315	151303315	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:151303315C>T	uc022cgz.1	-	0	778	c.778G>A	c.(778-780)Gag>Aag	p.E260K	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.E260K|MAGEA10_uc004ffm.2_Missense_Mutation_p.E260K|MAGEA10_uc004ffl.3_Missense_Mutation_p.E260K	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	260	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAGGTGCTCCATCCCATCA	0.532000														6			45		0	0	0.010771	0	0
STK36	27148	broad.mit.edu	37	2	219562684	219562684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:219562684C>T	uc002viu.3	+	24	3296	c.3017C>T	c.(3016-3018)gCc>gTc	p.A1006V	STK36_uc002viv.3_Missense_Mutation_p.A985V|STK36_uc002vix.3_Missense_Mutation_p.A51V	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	1006					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GGTGTCTTGGCCGACCTCAGG	0.547000														58			52		0	0	0.014410	0	0
CNTN5	53942	broad.mit.edu	37	11	100169975	100169975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:100169975G>A	uc001pga.3	+	19	2971	c.2467G>A	c.(2467-2469)Gaa>Aaa	p.E823K	CNTN5_uc001pfz.3_Missense_Mutation_p.E823K|CNTN5_uc021qpb.1_Missense_Mutation_p.E823K|CNTN5_uc021qpc.1_Missense_Mutation_p.E749K|CNTN5_uc010ruk.2_Missense_Mutation_p.E94K	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	823	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.E823K(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGGCTGGAAGGAAAAAATGGT	0.408000														30			8		0	0	0.003080	0	0
RPA4	29935	broad.mit.edu	37	X	96139470	96139470	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:96139470T>A	uc004efv.4	+	0	564	c.161T>A	c.(160-162)cTt>cAt	p.L54H	DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.	54					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GTGAACCAGCTTCTCAGCTCT	0.493000								Other identified genes with known or suspected DNA repair function						3			34		0	0	0.005524	0	0
GNL1	2794	broad.mit.edu	37	6	30515241	30515241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:30515241G>A	uc003nqh.3	-	8	2557	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	GNL1_uc011dmi.2_Missense_Mutation_p.S186F|GNL1_uc011dmj.2_Missense_Mutation_p.S387F|GNL1_uc011dmk.2_Missense_Mutation_p.S44F	NM_005275	NP_005266	P36915	GNL1_HUMAN	Homo sapiens guanine nucleotide binding protein-like 1 (GNL1), mRNA.	389	G.				T cell mediated immunity|response to DNA damage stimulus|signal transduction	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CGGGGTTCTGGAGACACTCAC	0.527000														16			135		0	0	0.014410	0	0
MYH4	4622	broad.mit.edu	37	17	10353813	10353813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:10353813C>T	uc002gmn.3	-	29	4249	c.4138G>A	c.(4138-4140)Gag>Aag	p.E1380K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1380					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCGTCCGTCTCGTACTTGGTC	0.557000														90			49		0	0	0.014410	0	0
TECRL	253017	broad.mit.edu	37	4	65155462	65155462	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:65155462G>A	uc003hcv.3	-	8	907	c.798C>T	c.(796-798)ttC>ttT	p.F266F		NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	266					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TTACATTGATGAAATGATTCC	0.274000														3			7		0	0	0.008291	0	0
DNAH8	1769	broad.mit.edu	37	6	38704979	38704979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:38704979C>T	uc021yzh.1	+	5	1008	c.899C>T	c.(898-900)tCt>tTt	p.S300F	DNAH8_uc003ooe.2_Missense_Mutation_p.S83F	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											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						CAGGGAGAATCTGAAAAACAT	0.323000														10			40		0	0	0.008740	0	0
LRP3	4037	broad.mit.edu	37	19	33698215	33698215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:33698215C>T	uc010edh.3	+	6	2140	c.2047C>T	c.(2047-2049)Ccc>Tcc	p.P683S	LRP3_uc002nuk.4_Missense_Mutation_p.P557S	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	683					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TTCAGGGCCACCCTTGCCCTC	0.706000														11			4		0	0	0.001168	0	0
GPR137C	283554	broad.mit.edu	37	14	53100346	53100346	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:53100346C>T	uc001wzt.4	+	5	1014	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	GPR137C_uc001wzu.4_Silent_p.F322F	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN	Homo sapiens G protein-coupled receptor 137C (GPR137C), mRNA.	322						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TACTGTTTTTCCGGGCACAGA	0.368000														24			22		0	0	0.010504	0	0
PTPRD	5789	broad.mit.edu	37	9	8317926	8317926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:8317926G>A	uc003zkk.3	-	45	6430	c.5687C>T	c.(5686-5688)tCc>tTc	p.S1896F	PTPRD_uc003zkp.3_Missense_Mutation_p.S1490F|PTPRD_uc003zkq.3_Missense_Mutation_p.S1489F|PTPRD_uc003zkr.3_Missense_Mutation_p.S1480F|PTPRD_uc003zks.3_Missense_Mutation_p.S1489F|PTPRD_uc022bdj.1_Missense_Mutation_p.S1486F	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1896	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGCACGATAGGAAAACTGATA	0.408000										TSP Lung(15;0.13)				12			62		0	0	0.014410	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47221154	47221154	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:47221154G>A	uc003oyv.3	-	3	1780	c.1347C>T	c.(1345-1347)tcC>tcT	p.S449S		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	449	Death.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGTACCCATTGGAGAAAGCAG	0.582000														21			16		0	0	0.003163	0	0
CNGA4	1262	broad.mit.edu	37	11	6261336	6261336	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:6261336G>C	uc001mco.3	+	3	427	c.312G>C	c.(310-312)agG>agC	p.R104S	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.R64S	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	104					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAAGGGTAGGATCTCGAGTC	0.597000														62			45		0	0	0.009718	0	0
PARD3	56288	broad.mit.edu	37	10	34606232	34606232	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:34606232C>T	uc010qej.2	-	19	3207	c.2877G>A	c.(2875-2877)ggG>ggA	p.G959G	PARD3_uc010qep.2_Silent_p.G869G|PARD3_uc010qeq.2_Silent_p.G884G|PARD3_uc010qek.2_Silent_p.G956G|PARD3_uc010qel.2_Silent_p.G959G|PARD3_uc010qem.2_Silent_p.G943G|PARD3_uc010qen.2_Silent_p.G913G|PARD3_uc010qeo.2_Silent_p.G913G|PARD3_uc001ixo.2_Silent_p.G672G|PARD3_uc001ixr.2_Silent_p.G956G|PARD3_uc001ixq.2_Silent_p.G913G|PARD3_uc001ixp.2_Silent_p.G925G|PARD3_uc001ixt.1_Silent_p.G777G|PARD3_uc001ixu.2_Silent_p.G901G|PARD3_uc001ixs.1_Silent_p.G582G	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	959					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CAGACTCTCTCCCTGATCTTG	0.398000														52			36		0	0	0.006999	0	0
NOB1	28987	broad.mit.edu	37	16	69788587	69788587	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:69788587C>A	uc002exs.3	-	1	122	c.106G>T	c.(106-108)Gag>Tag	p.E36*		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	36	PINc.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCCCGAATCTCAGTGACCACC	0.632000														22			20		1.9806e-07	2.08007e-07	0.014323	1	0
RREB1	6239	broad.mit.edu	37	6	7231902	7231902	+	Silent	SNP	C	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:7231902C>G	uc003mxb.3	+	9	4062	c.3570C>G	c.(3568-3570)acC>acG	p.T1190T	RREB1_uc021yky.1_Silent_p.T1190T|RREB1_uc003mxc.3_Silent_p.T1190T|RREB1_uc010jnx.3_Silent_p.T1190T|RREB1_uc021ykz.1_Silent_p.T1190T|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	1190					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.T1190A(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACAGACACCAACAAGTTCA	0.642000														23			10		0	0	0.008291	0	0
USHBP1	83878	broad.mit.edu	37	19	17373466	17373466	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:17373466C>T	uc002nfs.1	-	3	650	c.537G>A	c.(535-537)agG>agA	p.R179R	USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Silent_p.R115R|USHBP1_uc010eam.1_Silent_p.R107R	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	179							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCCAGGCATTCCTCTCGGCCA	0.662000														40			30		0	0	0.010818	0	0
OR4C13	283092	broad.mit.edu	37	11	49974618	49974618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:49974618C>T	uc010rhz.2	+	0	676	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S215F(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTCCTGGTCTCCTGCGTGGTC	0.488000														52			42		0	0	0.010771	0	0
TRIM42	287015	broad.mit.edu	37	3	140401461	140401461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:140401461G>A	uc003eto.2	+	1	705	c.499G>A	c.(499-501)Gag>Aag	p.E167K		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	167						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAGCCTGTGCGAGAAGTGCCT	0.602000														65			49		0	0	0.014410	0	0
TTLL2	83887	broad.mit.edu	37	6	167754748	167754748	+	Missense_Mutation	SNP	C	T	T	rs148357898		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:167754748C>T	uc003qvs.1	+	2	1448	c.1360C>T	c.(1360-1362)Cct>Tct	p.P454S		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	454					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGACTGTCTTCCTTATGATTC	0.493000														38			26		0	0	0.004656	0	0
POP4	10775	broad.mit.edu	37	19	30104870	30104870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:30104870C>T	uc002nsf.2	+	5	573	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	POP4_uc002nsg.2_Missense_Mutation_p.R92C	NM_006627	NP_006618	O95707	RPP29_HUMAN	Homo sapiens processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) (POP4), transcript variant 1, mRNA.	173					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	RNA binding|identical protein binding|ribonuclease P activity	p.R173H(1)		breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CAAAGAAGACCGCCTGAAAGG	0.453000														13			16		0	0	0.004990	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039512	55039512	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:55039512C>T	uc003pcl.3	+	0	442	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	43					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCTGCGGTACCTGTGGAGGGA	0.542000														44			40		0	0	0.005524	0	0
ZDHHC13	54503	broad.mit.edu	37	11	19197388	19197388	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:19197388C>T	uc001mpi.3	+	16	1855	c.1750C>T	c.(1750-1752)Ctg>Ttg	p.L584L	ZDHHC13_uc001mpj.3_Silent_p.L454L	NM_019028	NP_001001483	Q8IUH4	ZDH13_HUMAN	Homo sapiens zinc finger, DHHC-type containing 13 (ZDHHC13), transcript variant 1, mRNA.	584					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						CATGCAGAACCTGGCAGATTT	0.418000														46			32		0	0	0.010818	0	0
DHX29	54505	broad.mit.edu	37	5	54566425	54566425	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:54566425G>A	uc003jpx.3	-	18	3094	c.2974C>T	c.(2974-2976)Cga>Tga	p.R992*	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	992	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GTGTACATTCGGAAACAGAAG	0.423000														57			4		0	0	0.001984	0	0
AOX1	316	broad.mit.edu	37	2	201523929	201523929	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:201523929C>T	uc002uvx.3	+	27	3314	c.3213C>T	c.(3211-3213)caC>caT	p.H1071H	AOX1_uc010zhf.2_Silent_p.H627H|AOX1_uc010fsu.3_Silent_p.H437H	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	1071					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion 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)	CGAATGTCCACCTGCGTGGAA	0.443000														29			26		0	0	0.003330	0	0
MYH1	4619	broad.mit.edu	37	17	10408543	10408543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:10408543C>T	uc002gmo.3	-	20	2466	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	791	IQ.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCCTGGGTTCGGGTAATCAG	0.458000														32			21		0	0	0.012319	0	0
SEC16B	89866	broad.mit.edu	37	1	177915597	177915597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:177915597G>A	uc001glj.1	-	18	2602	c.1736C>T	c.(1735-1737)aCc>aTc	p.T579I	SEC16B_uc001glk.1_Missense_Mutation_p.T255I|SEC16B_uc009wwy.1_Missense_Mutation_p.T133I|SEC16B_uc001glh.1_Missense_Mutation_p.T237I|SEC16B_uc001gli.1_Missense_Mutation_p.T578I|SEC16B_uc009wwz.1_Missense_Mutation_p.T237I|SEC16B_uc001gll.4_Missense_Mutation_p.T579I	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	578					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGTCTTCACGGTGTAGTGGCC	0.547000											OREG0014008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6			7		0	0	0.003080	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69342107	69342107	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:69342107A>C	uc003hdz.4	+	6	722	c.658A>C	c.(658-660)Acc>Ccc	p.T220P		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	220	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.T220T(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CTGTGGAGCAACCTTAATTAA	0.502000														60			27		0	0	0.008361	0	0
ME1	4199	broad.mit.edu	37	6	84025054	84025054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:84025054C>T	uc003pjy.3	-	5	944	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	ME1_uc011dzb.2_Missense_Mutation_p.E152K|ME1_uc011dzc.2_Missense_Mutation_p.E61K	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	227					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding	p.D226D(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TCCATGAATTCGTCCAAAAAA	0.303000														43			22		0	0	0.005443	0	0
OR13C2	392376	broad.mit.edu	37	9	107367090	107367090	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:107367090C>T	uc011lvq.2	-	0	819	c.819G>A	c.(817-819)ttG>ttA	p.L273L		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CGGTAGCATCCAAGTCATCCG	0.418000														59			38		0	0	0.008740	0	0
C6orf165	154313	broad.mit.edu	37	6	88173777	88173777	+	Missense_Mutation	SNP	G	A	A	rs146287743		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:88173777G>A	uc003plv.3	+	12	1801	c.1678G>A	c.(1678-1680)Gat>Aat	p.D560N	SLC35A1_uc003plx.3_Non-coding_Transcript|C6orf165_uc003plw.3_Missense_Mutation_p.D372N|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	560										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGTACAAACTGATCTTAGTCA	0.413000														27			16		0	0	0.006122	0	0
MYO18A	399687	broad.mit.edu	37	17	27437624	27437624	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:27437624G>A	uc002hdt.1	-	17	3075	c.2917C>T	c.(2917-2919)Ctg>Ttg	p.L973L	MYO18A_uc010wbc.1_Silent_p.L515L|MYO18A_uc002hds.2_Silent_p.L515L|MYO18A_uc010csa.1_Silent_p.L973L|MYO18A_uc002hdu.1_Silent_p.L973L|MYO18A_uc010wbd.1_Silent_p.L642L	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	973	Myosin head-like.				DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCCAGAAACAGGTTGCTGATG	0.652000														12			13		0	0	0.002450	0	0
ILDR2	387597	broad.mit.edu	37	1	166927321	166927321	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:166927321G>A	uc001gdx.2	-	1	120	c.64C>T	c.(64-66)Cag>Tag	p.Q22*		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	22	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						ACTGTGACCTGAAGGCCTTCG	0.517000														71			43		0	0	0.008740	0	0
ZNF839	55778	broad.mit.edu	37	14	102793131	102793131	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:102793131C>T	uc010awk.1	+	1	1105	c.1098C>T	c.(1096-1098)agC>agT	p.S366S	ZNF839_uc001ylo.2_Silent_p.S250S|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Silent_p.S250S|ZNF839_uc001ylr.2_Silent_p.S250S	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	Homo sapiens zinc finger protein 839 (ZNF839), mRNA.	250						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GGACGCTCAGCCTGACCTCCC	0.637000														4			12		0	0	0.013537	0	0
LRRC15	131578	broad.mit.edu	37	3	194081166	194081166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:194081166G>A	uc003ftt.3	-	2	750	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	LRRC15_uc003ftu.3_Missense_Mutation_p.R203W|LRRC15_uc021xiy.1_Missense_Mutation_p.R203W	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	203						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TCATACAGCCGGAGGACCTGG	0.562000														93			95		0	0	0.014410	0	0
SNX19	399979	broad.mit.edu	37	11	130781612	130781612	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:130781612G>T	uc001qgk.4	-	1	2277	c.1729C>A	c.(1729-1731)Cac>Aac	p.H577N	SNX19_uc010sce.2_5'UTR|SNX19_uc010scf.2_Missense_Mutation_p.H20N|SNX19_uc010scg.2_5'UTR|SNX19_uc001qgl.3_Missense_Mutation_p.H577N|SNX19_uc009zcx.1_Non-coding_Transcript	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	577	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TTCACAGTGTGGTAGGCCAGC	0.507000														46			22		8.04996e-18	8.58515e-18	0.012319	1	0
ACAD10	80724	broad.mit.edu	37	12	112182701	112182701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:112182701G>A	uc009zvx.3	+	13	2262	c.2062G>A	c.(2062-2064)Gag>Aag	p.E688K	ACAD10_uc001tsp.3_Missense_Mutation_p.E657K|ACAD10_uc001tsq.3_Missense_Mutation_p.E657K|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	657				H -> R (in Ref. 2; BAC03869).			acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TATCTCTCCAGAGAGCCTCTC	0.587000														38			29		0	0	0.006320	0	0
TBXAS1	6916	broad.mit.edu	37	7	139661886	139661886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:139661886G>A	uc011kqv.2	+	9	1364	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	TBXAS1_uc003vvh.3_Missense_Mutation_p.E331K|TBXAS1_uc010lne.3_Missense_Mutation_p.E263K|TBXAS1_uc011kqu.2_Missense_Mutation_p.E282K|TBXAS1_uc003vvi.3_Missense_Mutation_p.E331K|TBXAS1_uc011kqw.2_Missense_Mutation_p.E311K|TBXAS1_uc003vvj.3_Missense_Mutation_p.E331K	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	330					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GACTGTGGATGAGATTGTGGG	0.542000														19			12		0	0	0.013537	0	0
NID1	4811	broad.mit.edu	37	1	236212001	236212001	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:236212001G>A	uc001hxo.3	-	1	616	c.514C>T	c.(514-516)Cag>Tag	p.Q172*	NID1_uc009xgd.3_Nonsense_Mutation_p.Q172*	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	172	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding	p.Q172*(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TTGCCTTTCTGGTCTGGGTCC	0.562000														22			14		0	0	0.001855	0	0
CRH	1392	broad.mit.edu	37	8	67089270	67089270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:67089270G>A	uc022avj.1	-	0	443	c.443C>T	c.(442-444)cCg>cTg	p.P148L	CRH_uc003xvy.2_Missense_Mutation_p.P148L	NM_000756	NP_000747	P06850	CRF_HUMAN	Homo sapiens corticotropin releasing hormone (CRH), mRNA.	148					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	TTCTCTCTCCGGTGCCTCCTG	0.677000											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6			3		0	0	0.009096	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354326	45354326	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:45354326C>T	uc002xsl.3	+	1	748	c.651C>T	c.(649-651)tcC>tcT	p.S217S		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	217						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CACGGTACTCCTTTCTGGACC	0.632000														53			44		0	0	0.011902	0	0
PARP4	143	broad.mit.edu	37	13	25008897	25008897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:25008897G>A	uc001upl.3	-	30	4488	c.4382C>T	c.(4381-4383)cCt>cTt	p.P1461L		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1461					DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AAAATGAAAAGGAGAGGAAGC	0.517000														20			5		0	0	0.000602	0	0
EHD3	30845	broad.mit.edu	37	2	31483665	31483665	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:31483665C>T	uc002rnu.3	+	3	1400	c.792C>T	c.(790-792)atC>atT	p.I264I	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	264					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|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)					CCCTCCTCATCCCTGACAACC	0.597000														35			27		0	0	0.005443	0	0
USP4	7375	broad.mit.edu	37	3	49348150	49348150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:49348150G>A	uc003cwq.2	-	7	936	c.857C>T	c.(856-858)tCg>tTg	p.S286L	USP4_uc003cwp.2_Missense_Mutation_p.S16L|USP4_uc003cwr.2_Missense_Mutation_p.S239L	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	286					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		ACAATTATACGAAGCAGAAAA	0.468000														20			22		0	0	0.002780	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960610	33960610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:33960610C>T	uc001bxj.4	+	7	2833	c.2666C>T	c.(2665-2667)gCc>gTc	p.A889V	ZSCAN20_uc009vui.3_Missense_Mutation_p.A888V	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	889					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAGAGCTCTGCCCTCATTAGT	0.468000														12			127		0	0	0.014410	0	0
TJP3	27134	broad.mit.edu	37	19	3738999	3738999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:3738999G>A	uc010xhv.2	+	11	1597	c.1597G>A	c.(1597-1599)Gac>Aac	p.D533N	TJP3_uc010xhs.2_Missense_Mutation_p.D500N|TJP3_uc010xht.2_Missense_Mutation_p.D464N|TJP3_uc010xhu.2_Missense_Mutation_p.D509N|TJP3_uc010xhw.2_Missense_Mutation_p.D519N	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	514	SH3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCCGTGGCGACGTCTTCCA	0.672000														44			38		0	0	0.005524	0	0
KRT40	125115	broad.mit.edu	37	17	39140424	39140424	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:39140424G>A	uc010cxh.1	-	2	263	c.102C>T	c.(100-102)ctC>ctT	p.L34L	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	34	Head.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				AGGTACCGGGGAGACAAGCTG	0.577000														19			24		0	0	0.003954	0	0
LHFPL4	375323	broad.mit.edu	37	3	9594046	9594046	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:9594046G>A	uc003bry.3	-	1	604	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	106						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					TGCAGCCGAGGATCAGCACCA	0.612000											OREG0005683	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=LHFPL4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		25			22		0	0	0.003954	0	0
TG	7038	broad.mit.edu	37	8	133899155	133899155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:133899155G>A	uc003ytw.3	+	8	1579	c.1538G>A	c.(1537-1539)gGg>gAg	p.G513E		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	513					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)		TTGAATGGAGGGAGACAAGAA	0.448000														36			24		0	0	0.002780	0	0
PLCB4	5332	broad.mit.edu	37	20	9417698	9417698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:9417698G>A	uc021wam.1	+	25	2642	c.2627G>A	c.(2626-2628)gGa>gAa	p.G876E	PLCB4_uc010gbw.1_Missense_Mutation_p.G876E|PLCB4_uc010gbx.3_Missense_Mutation_p.G888E|PLCB4_uc021wal.1_Missense_Mutation_p.G876E|PLCB4_uc002wnh.3_Missense_Mutation_p.G723E	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	876					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GACAAGAAAGGAAAGGCCAAC	0.498000														20			16		0	0	0.004007	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190482	209190482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:209190482C>T	uc002vcz.3	+	19	3105	c.2947C>T	c.(2947-2949)Cct>Tct	p.P983S	PIKFYVE_uc010fun.1_Missense_Mutation_p.P664S|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P927S	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	983					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						GTTGCCACTCCCTGTGGATGA	0.512000														31			21		0	0	0.003330	0	0
TRPV6	55503	broad.mit.edu	37	7	142583159	142583159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:142583159C>T	uc003wbx.2	-	0	332	c.103G>A	c.(103-105)Gag>Aag	p.E35K		NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	35					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)					AGGTTCTGCTCATCTCGGCTC	0.607000														48			37		0	0	0.009718	0	0
BC043541	0	broad.mit.edu	37	1	43353113	43353113	+	RNA	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:43353113G>A	uc001cij.1	+	3		c.1015G>A								Homo sapiens cDNA clone IMAGE:5170739.																		GCTTGAGGATGAAGTTCCTGC	0.667000														5			26		0	0	0.003954	0	0
BACH2	60468	broad.mit.edu	37	6	90642343	90642343	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:90642343C>T	uc011eab.2	-	8	3184	c.2310G>A	c.(2308-2310)ttG>ttA	p.L770L	BACH2_uc003pnw.3_Silent_p.L770L	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	770						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)		CGCCTGGCTCCAAGCAGCAGG	0.642000														37			40		0	0	0.005524	0	0
ANO5	203859	broad.mit.edu	37	11	22257768	22257768	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:22257768G>A	uc001mqi.2	+	7	1025	c.708G>A	c.(706-708)ggG>ggA	p.G236G	ANO5_uc001mqj.2_Silent_p.G235G	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	236						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAAGGTTTGGGATTGAAAGAC	0.388000														24			18		0	0	0.003954	0	0
APOB	338	broad.mit.edu	37	2	21229594	21229594	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:21229594C>T	uc002red.3	-	25	10274	c.10146G>A	c.(10144-10146)gaG>gaA	p.E3382E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3382	LDL receptor binding.				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	p.L3381S(1)		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)	TTGTGGTGCCCTCTAATTTGT	0.413000														369			248		0	0	0.014410	0	0
FAM135A	57579	broad.mit.edu	37	6	71246050	71246050	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:71246050C>T	uc003pfj.3	+	16	4186	c.4053C>T	c.(4051-4053)acC>acT	p.T1351T	FAM135A_uc003pfi.3_Silent_p.T1155T|FAM135A_uc003pfh.3_Silent_p.T1138T|FAM135A_uc003pfl.3_Silent_p.T1018T|FAM135A_uc003pfn.3_Silent_p.T557T|FAM135A_uc003pfo.1_Silent_p.T722T|FAM135A_uc010kan.2_Silent_p.T130T	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	1351										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AACTTCATACCTTTCTGTCTC	0.348000														34			17		0	0	0.008871	0	0
OR5H15	403274	broad.mit.edu	37	3	97888259	97888259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:97888259C>T	uc011bgu.2	+	0	716	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						AAAGCCTTTTCCACCTGTGGA	0.413000														36			24		0	0	0.003330	0	0
OR51T1	401665	broad.mit.edu	37	11	4903218	4903218	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:4903218C>T	uc010qyp.2	+	0	170	c.170C>T	c.(169-171)tCc>tTc	p.S57F		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCTGGATCTCCATTCCAGTC	0.453000														65			44		0	0	0.014410	0	0
PBRM1	55193	broad.mit.edu	37	3	52620643	52620643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:52620643C>T	uc003des.2	-	19	3197	c.3185G>A	c.(3184-3186)cGg>cAg	p.R1062Q	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.R1062Q|PBRM1_uc003der.2_Missense_Mutation_p.R1030Q|PBRM1_uc003det.2_Missense_Mutation_p.R1077Q|PBRM1_uc003deu.2_Missense_Mutation_p.R1077Q|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.R1062Q|PBRM1_uc010hmk.1_Missense_Mutation_p.R1037Q|PBRM1_uc003dey.2_Missense_Mutation_p.R1037Q|PBRM1_uc003dez.1_Missense_Mutation_p.R1061Q|PBRM1_uc003dfb.1_Missense_Mutation_p.R974Q|PBRM1_uc003dfa.1_Missense_Mutation_p.R408Q	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1062	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGCAGAATACCGTGATTCACA	0.448000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									34			25		0	0	0.003330	0	0
FOLH1B	219595	broad.mit.edu	37	11	89421805	89421805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:89421805G>A	uc001pda.3	+	9	1188	c.662G>A	c.(661-663)gGa>gAa	p.G221E		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	221					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CAACGACTTGGAATTGCTTCA	0.299000														67			60		0	0	0.014410	0	0
KIF14	9928	broad.mit.edu	37	1	200550410	200550410	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:200550410C>A	uc010ppk.1	-	19	3693	c.3254G>T	c.(3253-3255)tGg>tTg	p.W1085L	KIF14_uc010ppj.1_Missense_Mutation_p.W594L	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	1085	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CATAGAGCTCCAAGTTGTCTG	0.333000														37			36		8.16904e-11	8.64133e-11	0.007835	1	0
SYT16	83851	broad.mit.edu	37	14	62536415	62536415	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:62536415G>A	uc001xfu.1	+	1	815	c.618G>A	c.(616-618)caG>caA	p.Q206Q	SYT16_uc010tsd.1_Silent_p.Q206Q	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	206										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CCCGGTCCCAGAGTTTCCGTT	0.493000														66			49		0	0	0.014410	0	0
TPSD1	23430	broad.mit.edu	37	16	1306943	1306943	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:1306943C>T	uc002clb.1	+	2	409	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L	TPSD1_uc010brm.1_Silent_p.L63L	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	Homo sapiens tryptase delta 1 (TPSD1), mRNA.	134	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CCTGCTGGAGCTGGAGGAGCC	0.652000														15			18		0	0	0.007413	0	0
RBM41	55285	broad.mit.edu	37	X	106312492	106312492	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:106312492G>A	uc004emz.3	-	5	1122	c.1068C>T	c.(1066-1068)acC>acT	p.T356T	RBM41_uc004emy.2_Silent_p.T356T	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	Homo sapiens RNA binding motif protein 41 (RBM41), transcript variant 1, mRNA.	356	RRM.						RNA binding|nucleotide binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TACTGGGAAAGGTGATAAAAG	0.423000														6			30		0	0	0.009535	0	0
TFB1M	51106	broad.mit.edu	37	6	155618167	155618167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:155618167C>T	uc003qqj.4	-	3	521	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	TFB1M_uc003qqk.3_Intron	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	Homo sapiens transcription factor B1, mitochondrial (TFB1M), nuclear gene encoding mitochondrial protein, mRNA.	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		GAAATATTTTCAAGCCACTTG	0.368000														22			21		0	0	0.003330	0	0
CRTAC1	55118	broad.mit.edu	37	10	99661391	99661391	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:99661391G>A	uc001kou.2	-	7	1358	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	CRTAC1_uc001kov.3_Silent_p.I334I|CRTAC1_uc001kot.2_Silent_p.I124I	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	334						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TGGGTGAGGCGATGTCCTGGA	0.572000														16			21		0	0	0.014323	0	0
ZNF823	55552	broad.mit.edu	37	19	11832982	11832982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:11832982G>A	uc002msm.2	-	3	1493	c.1367C>T	c.(1366-1368)tCt>tTt	p.S456F	ZNF823_uc010xmd.1_Missense_Mutation_p.S274F|ZNF823_uc010dyi.1_Missense_Mutation_p.S412F	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	Homo sapiens zinc finger protein 823 (ZNF823), mRNA.	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TTGAAAGGAAGAGAGATCACT	0.423000										HNSCC(68;0.2)				40			30		0	0	0.007291	0	0
RASL12	51285	broad.mit.edu	37	15	65350917	65350917	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:65350917G>A	uc002aoi.1	-	3	488	c.273C>T	c.(271-273)gcC>gcT	p.A91A	RASL12_uc002aoj.1_Silent_p.A72A|RASL12_uc010uir.1_Silent_p.A80A	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN	Homo sapiens RAS-like, family 12 (RASL12), mRNA.	91					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						GGAAGGCATGGGCCCAGTTCA	0.632000														31			17		0	0	0.004007	0	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74562237	74562237	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:74562237G>A	uc002jsg.4	-	8	1329	c.1074C>T	c.(1072-1074)gcC>gcT	p.A358A		NM_006456	NP_006447	Q9UJ37	SIA7B_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 (ST6GALNAC2), mRNA.	358					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						CCCTCCACAGGGCAGCTTCCA	0.507000														37			47		0	0	0.014410	0	0
TP53I13	90313	broad.mit.edu	37	17	27899364	27899364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:27899364C>T	uc002hee.3	+	5	756	c.718C>T	c.(718-720)Cct>Tct	p.P240S		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	Homo sapiens tumor protein p53 inducible protein 13 (TP53I13), mRNA.	240						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		GGCGGGAATCCCTGGTAGGGA	0.657000														31			28		0	0	0.009535	0	0
SNAP91	9892	broad.mit.edu	37	6	84290235	84290235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:84290235G>A	uc021zcf.1	-	22	2263	c.2233C>T	c.(2233-2235)Cct>Tct	p.P745S	SNAP91_uc011dzd.2_Missense_Mutation_p.P243S|SNAP91_uc003pka.3_Missense_Mutation_p.P743S|SNAP91_uc011dze.2_Missense_Mutation_p.P743S|SNAP91_uc003pkc.3_Missense_Mutation_p.P715S|SNAP91_uc003pkd.3_Missense_Mutation_p.P438S|SNAP91_uc003pkb.3_Missense_Mutation_p.P654S	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	745					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)		GCCATTGCAGGACTGGGTGGT	0.453000														56			36		0	0	0.006999	0	0
PCNX	22990	broad.mit.edu	37	14	71444066	71444066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:71444066G>A	uc001xmo.2	+	5	1458	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	PCNX_uc001xmn.4_Missense_Mutation_p.E338K|PCNX_uc010are.1_Missense_Mutation_p.E338K	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	338						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTTATCTGGGGAATTTCAGCT	0.423000														36			29		0	0	0.008361	0	0
PCLO	27445	broad.mit.edu	37	7	82579028	82579028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:82579028G>A	uc003uhx.2	-	5	11165	c.10876C>T	c.(10876-10878)Ccc>Tcc	p.P3626S	PCLO_uc003uhv.2_Missense_Mutation_p.P3626S|PCLO_uc010lec.3_Missense_Mutation_p.P591S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3557					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P3626P(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGAGATGGGTGAGTAAAGG	0.483000														62			56		0	0	0.014410	0	0
LRRC49	54839	broad.mit.edu	37	15	71256138	71256138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:71256138C>T	uc010ukf.2	+	8	1109	c.803C>T	c.(802-804)tCc>tTc	p.S268F	LRRC49_uc002asu.3_Missense_Mutation_p.S253F|LRRC49_uc002asx.3_Missense_Mutation_p.S219F|LRRC49_uc002asw.3_Missense_Mutation_p.S263F|LRRC49_uc002asy.3_5'UTR|LRRC49_uc002asz.3_Missense_Mutation_p.S235F	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	263						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GACAGTGTTTCCTGCCTTGCT	0.403000														107			97		0	0	0.014410	0	0
FAT3	120114	broad.mit.edu	37	11	92523341	92523341	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:92523341G>A	uc001pdj.4	+	6	4585	c.4568G>A	c.(4567-4569)aGg>aAg	p.R1523K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1523	Cadherin 14.				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)				ACTGCCGAGAGGCTGGACCAT	0.498000										TCGA Ovarian(4;0.039)				295			157		0	0	0.014410	0	0
NXPH1	30010	broad.mit.edu	37	7	8790861	8790861	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:8790861A>G	uc003srv.3	+	2	1189	c.278A>G	c.(277-279)aAc>aGc	p.N93S	NXPH1_uc011jxh.2_5'UTR	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	93	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGGCTGAGGAACTCCACAGAC	0.483000														42			35		0	0	0.013726	0	0
IL20RA	53832	broad.mit.edu	37	6	137329796	137329796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:137329796C>T	uc003qhj.3	-	4	1097	c.664G>A	c.(664-666)Gtc>Atc	p.V222I	IL20RA_uc011edl.2_Missense_Mutation_p.V173I|IL20RA_uc003qhk.3_Missense_Mutation_p.V111I|IL20RA_uc003qhi.3_5'UTR	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	222	Fibronectin type-III 2.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GGCCCTGGGACGAAGGACTCC	0.542000														56			37		0	0	0.004878	0	0
OR51L1	119682	broad.mit.edu	37	11	5020353	5020353	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:5020353C>T	uc010qyu.2	+	0	141	c.141C>T	c.(139-141)atC>atT	p.I47I		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTTACCATCCTGTCTGTCA	0.433000														61			57		0	0	0.014410	0	0
MYH3	4621	broad.mit.edu	37	17	10533745	10533745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:10533745C>T	uc002gmq.2	-	36	5405	c.5317G>A	c.(5317-5319)Gag>Aag	p.E1773K		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1773					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GTGTCCTGCTCCTTCTTCAGC	0.577000														65			24		0	0	0.002780	0	0
LAMA2	3908	broad.mit.edu	37	6	129766889	129766889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:129766889G>A	uc021zfb.1	+	44	6457	c.6352G>A	c.(6352-6354)Gaa>Aaa	p.E2118K	LAMA2_uc003qbn.3_Missense_Mutation_p.E2116K|LAMA2_uc003qbo.3_Missense_Mutation_p.E2116K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2118	Domain II and I.				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)		ACCCATCAAGGAACTTGAGGA	0.378000														19			15		0	0	0.002450	0	0
OR5T1	390155	broad.mit.edu	37	11	56043337	56043337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:56043337C>T	uc001nio.1	+	0	223	c.223C>T	c.(223-225)Ctt>Ttt	p.L75F		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GTACTATTTTCTTGGTGTTTT	0.353000														27			20		0	0	0.008871	0	0
TTBK2	146057	broad.mit.edu	37	15	43045282	43045283	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:43045282_43045283GG>AT	uc001zqo.2	-	13	2600_2601	c.2161_2162CC>AT	c.(2161-2163)cct>ATt	p.P721I	TTBK2_uc010bcy.2_Missense_Mutation_p.P652I	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	721					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TCCACTAGGAGGTTCACCCTCT	0.465000														91			53		0	0	0.004672	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623849	21623849	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:21623849G>A	uc010tlp.2	-	0	336	c.336C>T	c.(334-336)tcC>tcT	p.S112S		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		TCTTCAGGAGGGAGTACATGG	0.542000														31			24		0	0	0.002780	0	0
BCAN	63827	broad.mit.edu	37	1	156621460	156621460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:156621460G>A	uc001fpp.3	+	6	1612	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	BCAN_uc001fpo.3_Missense_Mutation_p.E426K	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	426	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGACCCAGCAGAGGCCCCTAG	0.562000														61			56		0	0	0.014410	0	0
ALOXE3	59344	broad.mit.edu	37	17	8006749	8006749	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:8006749G>A	uc002gka.3	-	13	2347	c.2316C>T	c.(2314-2316)acC>acT	p.T772T	ALOXE3_uc010cnr.3_Silent_p.T616T|ALOXE3_uc010vuo.2_Silent_p.T748T	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.	616					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TGGTCCCCTTGGTCTGGGGTG	0.572000														36			41		0	0	0.006999	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090756	238090756	+	RNA	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:238090756G>A	uc010pyc.2	+	11		c.2262G>A								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		CCCAGCGGGAGATCATGCCCC	0.607000														5			5		0	0	0.000602	0	0
FOCAD	54914	broad.mit.edu	37	9	20874701	20874701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:20874701C>T	uc003zog.1	+	20	2575	c.2212C>T	c.(2212-2214)Cct>Tct	p.P738S	FOCAD_uc003zoh.1_Missense_Mutation_p.P174S	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	738						integral to membrane	binding	p.P738A(1)									AATTCCCATTCCTGAAGAGTT	0.368000														11			45		0	0	0.010771	0	0
SPDYE5	442590	broad.mit.edu	37	7	75130755	75130755	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:75130755G>A	uc011kfy.2	+	4	841	c.705G>A	c.(703-705)ggG>ggA	p.G235G	DQ601342_uc022agh.1_5'Flank	NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA.	235																	TCCTGTATGGGAAGAACCGCT	0.552000														112			85		0	0	0.014410	0	0
SCN1A	6323	broad.mit.edu	37	2	166929996	166929996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:166929996C>T	uc002udo.4	-	2	363	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	SCN1A_uc010fpk.3_Missense_Mutation_p.E46K|SCN1A_uc021vsb.1_Missense_Mutation_p.E46K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	46						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D45D(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGGCCATTTTCGTCGTCATCT	0.448000														98			69		0	0	0.014410	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74905264	74905264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:74905264G>A	uc001dge.2	+	21	2339	c.2272G>A	c.(2272-2274)Gaa>Aaa	p.E758K	FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.E758K|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.E657K	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	657						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										GTGTCTGTGGGAAATTCTCAC	0.458000														6			61		0	0	0.014410	0	0
SCN10A	6336	broad.mit.edu	37	3	38739366	38739366	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:38739366C>T	uc003ciq.3	-	26	5345	c.5345G>A	c.(5344-5346)cGa>cAa	p.R1782Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1782					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAGTATATTTCGATTGGGTTT	0.473000														32			19		0	0	0.006122	0	0
HAO2	51179	broad.mit.edu	37	1	119929351	119929351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:119929351G>A	uc001ehr.1	+	4	800	c.668G>A	c.(667-669)gGg>gAg	p.G223E	HAO2_uc001ehq.1_Missense_Mutation_p.G223E	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	223	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		ATCCTGAAAGGGATTTTGACA	0.458000														9			88		0	0	0.014410	0	0
FAM177B	400823	broad.mit.edu	37	1	222920392	222920392	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:222920392G>A	uc001hnt.3	+	3	476	c.210G>A	c.(208-210)tgG>tgA	p.W70*	AK094916_uc001hnr.1_Intron|FAM177B_uc009xeb.3_Non-coding_Transcript	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	Homo sapiens family with sequence similarity 177, member B (FAM177B), mRNA.	70										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						TACGATTTTGGGCAGGACGAA	0.373000														39			31		0	0	0.003271	0	0
AMPH	273	broad.mit.edu	37	7	38424445	38424445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:38424445C>T	uc003tgu.3	-	20	2278	c.2062G>A	c.(2062-2064)Gag>Aag	p.E688K	AMPH_uc003tgv.3_Missense_Mutation_p.E646K|AMPH_uc003tgt.3_Missense_Mutation_p.E573K	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	688	SH3.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTGAAGTTCTCTGGAAAGAGG	0.468000														54			38		0	0	0.008740	0	0
OR14C36	127066	broad.mit.edu	37	1	248512159	248512159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:248512159C>T	uc010pzl.2	+	0	83	c.83C>T	c.(82-84)tCc>tTc	p.S28F		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	28					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						CATTCTGCATCCTTCTTTATG	0.443000														54			37		0	0	0.006230	0	0
NBPF1	55672	broad.mit.edu	37	1	16918441	16918441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:16918441G>A	uc009vos.1	-	6	964	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S	NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	26						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GCCAGCTGGGGGCGCAATTTC	0.498000														763			139		0	0	0.014410	0	0
TIMELESS	8914	broad.mit.edu	37	12	56822793	56822793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:56822793G>A	uc001slf.2	-	10	1346	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F	TIMELESS_uc001slg.2_Missense_Mutation_p.S392F	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	393					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TGGCCGGAAGGAGGCAGCTCG	0.522000														34			27		0	0	0.005443	0	0
SNPH	9751	broad.mit.edu	37	20	1285634	1285634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:1285634G>A	uc002wet.3	+	6	1234	c.553G>A	c.(553-555)Gag>Aag	p.E185K	SNPH_uc002wes.3_Missense_Mutation_p.E141K	NM_014723	NP_055538	O15079	SNPH_HUMAN	Homo sapiens syntaphilin (SNPH), mRNA.	141					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGCCCGAAAGGAGATCAAGCA	0.557000														65			35		0	0	0.006230	0	0
NLRP5	126206	broad.mit.edu	37	19	56515139	56515139	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:56515139C>T	uc002qmj.3	+	1	120	c.120C>T	c.(118-120)ttC>ttT	p.F40F	NLRP5_uc002qmi.3_Silent_p.F40F	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	40						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)		ATCCACTTTTCCCCCAAAACC	0.438000														58			45		0	0	0.013114	0	0
E4F1	1877	broad.mit.edu	37	16	2282530	2282530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:2282530C>T	uc002cpm.3	+	4	731	c.683C>T	c.(682-684)tCc>tTc	p.S228F	E4F1_uc010bsi.3_Missense_Mutation_p.S228F|E4F1_uc010bsj.3_Missense_Mutation_p.S228F	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	228	Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						TGTGGGGCCTCCTTCCGCACC	0.692000														13			17		0	0	0.006122	0	0
SLC4A9	83697	broad.mit.edu	37	5	139741433	139741433	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:139741433C>T	uc003lfm.2	+	3	653	c.618C>T	c.(616-618)gcC>gcT	p.A206A	SLC4A9_uc003lfj.2_Silent_p.A182A|SLC4A9_uc011czg.1_Silent_p.A182A|SLC4A9_uc003lfl.2_Silent_p.A182A|SLC4A9_uc003lfk.2_Silent_p.A182A	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA.	206						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGGAAGCCCCCCTGAGGG	0.502000														11			64		0	0	0.014410	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783702	149783702	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:149783702G>A	uc010pbk.2	-	0	227	c.177C>T	c.(175-177)gcC>gcT	p.A59A	HIST2H2BF_uc010pbj.2_Silent_p.A59A|HIST2H2BF_uc001esr.3_Silent_p.A59A	NM_001024599	NP_001019770	Q5QNW6	H2B2F_HUMAN	Homo sapiens histone cluster 2, H2bf (HIST2H2BF), transcript variant 1, mRNA.	59					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TGATGCCCATGGCCTTGGACG	0.607000														102			72		0	0	0.014410	0	0
SEC14L1	6397	broad.mit.edu	37	17	75196569	75196569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:75196569C>T	uc010dhc.3	+	8	1143	c.823C>T	c.(823-825)Cca>Tca	p.P275S	SEC14L1_uc021udv.1_Missense_Mutation_p.P275S|SEC14L1_uc021udw.1_Missense_Mutation_p.P275S|SEC14L1_uc021udx.1_Missense_Mutation_p.P275S|SEC14L1_uc002jto.3_Missense_Mutation_p.P275S|SEC14L1_uc010wth.2_Missense_Mutation_p.P275S|SEC14L1_uc002jtm.3_Missense_Mutation_p.P275S|SEC14L1_uc010wti.2_Missense_Mutation_p.P241S	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	275					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TTAATAGATTCCAAAAGATGA	0.433000														46			27		0	0	0.006320	0	0
MTNR1A	4543	broad.mit.edu	37	4	187454892	187454892	+	Missense_Mutation	SNP	G	A	A	rs150190540		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:187454892G>A	uc003izd.1	-	1	1022	c.1004C>T	c.(1003-1005)cCg>cTg	p.P335L		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	335					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	CAGTGGAGACGGTTTCCATTT	0.493000														56			42		0	0	0.009718	0	0
FKBP5	2289	broad.mit.edu	37	6	35610510	35610510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:35610510C>T	uc011dte.1	-	1	295	c.92G>A	c.(91-93)aGg>aAg	p.R31K	FKBP5_uc003okx.2_Missense_Mutation_p.R31K|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Missense_Mutation_p.R31K|FKBP5_uc003okz.2_Missense_Mutation_p.R31K	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	31					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TAATACTCCCCTGTCTTTTTT	0.468000														66			52		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179427187	179427187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:179427187C>T	uc021vsy.1	-	274	76193	c.75968G>A	c.(75967-75969)gGt>gAt	p.G25323D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G19018D|TTN_uc021vta.1_Missense_Mutation_p.G18951D|TTN_uc021vtb.1_Missense_Mutation_p.G18826D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26250	Ig-like 124.						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)			TTTGCTGCCACCATCACTTTC	0.433000														34			24		0	0	0.002780	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	71175	71175	+	Splice_Site	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrGL000209.1:71175G>A	uc002qui.2	+	2	81	c.70_splice	c.e2+1	p.G24_splice	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Splice_Site_p.G21_splice|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Splice_Site_p.G24_splice|KIR2DL2_uc010evh.1_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	24					regulation of immune response	integral to membrane|plasma membrane	receptor activity										GTCCACACATGGGTGAGTCCT	0.542000														52			19		0	0	0.014410	0	0
KLK10	5655	broad.mit.edu	37	19	51518160	51518160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:51518160G>A	uc002pva.3	-	5	847	c.727C>T	c.(727-729)Ctc>Ttc	p.L243F	KLK10_uc002puy.3_Missense_Mutation_p.L243F|KLK10_uc002puz.3_Missense_Mutation_p.L243F	NM_001077500	NP_665895	O43240	KLK10_HUMAN	Homo sapiens kallikrein-related peptidase 10 (KLK10), transcript variant 3, mRNA.	243	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CCCCACGAGAGGATGCCTTGG	0.542000														32			27		0	0	0.006320	0	0
GPR32	2854	broad.mit.edu	37	19	51274067	51274067	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:51274067C>T	uc010ycf.2	+	0	210	c.210C>T	c.(208-210)ttC>ttT	p.F70F		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	70						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)		TGACTGTCTTCCGTATGGCAC	0.572000														32			29		0	0	0.003755	0	0
HYDIN	54768	broad.mit.edu	37	16	71012907	71012907	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:71012907C>T	uc002ezr.3	-	29	4696	c.4545G>A	c.(4543-4545)agG>agA	p.R1515R		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1516										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)				CTGTGTTTTTCCTGGCTTGAT	0.433000														31			14		0	0	0.010504	0	0
DEF6	50619	broad.mit.edu	37	6	35265704	35265704	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:35265704G>C	uc003okk.3	+	0	110	c.71G>C	c.(70-72)gGc>gCc	p.G24A	DEF6_uc010jvs.3_Missense_Mutation_p.G24A|DEF6_uc010jvt.3_5'UTR	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	24						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GAGAAGAGTGGCAAAGTCTCC	0.687000														4			13		0	0	0.004007	0	0
CNGA3	1261	broad.mit.edu	37	2	99012478	99012478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:99012478C>T	uc010fij.3	+	7	998	c.857C>T	c.(856-858)tCc>tTc	p.S286F	CNGA3_uc002syt.3_Missense_Mutation_p.S282F|CNGA3_uc002syu.3_Missense_Mutation_p.S264F			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	282					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						CTGAAGTTTTCCCGGCTCTTT	0.488000														21			19		0	0	0.007413	0	0
GPR98	84059	broad.mit.edu	37	5	89953983	89953983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:89953983C>T	uc003kju.3	+	20	4736	c.4640C>T	c.(4639-4641)tCt>tTt	p.S1547F	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1547					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)		AAACTAGTTTCTGTATATGGA	0.363000														5			31		0	0	0.008361	0	0
KCNH7	90134	broad.mit.edu	37	2	163241346	163241346	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:163241346G>A	uc002uch.2	-	12	3043	c.2814C>T	c.(2812-2814)atC>atT	p.I938I		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	938					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CAATGGAGGAGATGAAAGATG	0.413000														63			50		0	0	0.014410	0	0
STK33	65975	broad.mit.edu	37	11	8486289	8486289	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:8486289C>T	uc001mgi.1	-	2	1339	c.420G>A	c.(418-420)acG>acA	p.T140T	STK33_uc001mgj.1_Silent_p.T140T|STK33_uc001mgk.1_Silent_p.T140T|STK33_uc010rbn.1_Silent_p.T99T|STK33_uc001mgl.3_5'UTR|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	140	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	p.T140M(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTGCCCACTTCGTTTCTGTTT	0.413000														40			32		0	0	0.003271	0	0
LMOD2	442721	broad.mit.edu	37	7	123296126	123296126	+	Silent	SNP	T	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:123296126T>C	uc003vky.2	+	0	266	c.109T>C	c.(109-111)Ttg>Ctg	p.L37L		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	37	Glu-rich.|Tropomyosin-binding (By similarity).					cytoskeleton	actin binding|tropomyosin binding										AGAGAGAGAGTTGGAAGACAT	0.537000														14			14		0	0	0.004007	0	0
FLNC	2318	broad.mit.edu	37	7	128478071	128478071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:128478071C>T	uc003vnz.4	+	5	1209	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C	FLNC_uc003voa.4_Missense_Mutation_p.R334C	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	334					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						TGACAAGGATCGCACCTATGC	0.537000														38			24		0	0	0.005443	0	0
TAOK2	9344	broad.mit.edu	37	16	30002663	30002663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:30002663C>T	uc002dvc.2	+	18	3741	c.2924C>T	c.(2923-2925)cCc>cTc	p.P975L	BOLA2_uc010bzb.1_Intron	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 2, mRNA.	864	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTGCTGGCTCCCCCAGGCCCC	0.716000														10			10		0	0	0.010729	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518493	113518493	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:113518493A>G	uc010ljy.1	-	3	2685	c.2654T>C	c.(2653-2655)gTt>gCt	p.V885A		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	885					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						TAATTCTTGAACCTGCCTAAG	0.358000														28			22		0	0	0.012319	0	0
KCNC1	3746	broad.mit.edu	37	11	17793727	17793727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:17793727G>A	uc009yhc.1	+	1	1141	c.1086G>A	c.(1084-1086)atG>atA	p.M362I	KCNC1_uc001mnk.4_Missense_Mutation_p.M362I	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	362						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCGCCACCATGATCTACTACG	0.622000														25			23		0	0	0.012319	0	0
SMCHD1	23347	broad.mit.edu	37	18	2718389	2718389	+	Silent	SNP	A	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:2718389A>T	uc002klm.4	+	18	2604	c.2415A>T	c.(2413-2415)gcA>gcT	p.A805A	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	805					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ACACTTATGCAGGAAGACCAC	0.289000														36			28		0	0	0.009535	0	0
MUC16	94025	broad.mit.edu	37	19	9077809	9077809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:9077809C>T	uc002mkp.3	-	2	9841	c.9637G>A	c.(9637-9639)Gaa>Aaa	p.E3213K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3214	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						ATGCTGGGTTCCTTGGAGCTC	0.478000														97			78		0	0	0.014410	0	0
KCNB2	9312	broad.mit.edu	37	8	73848639	73848639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:73848639C>T	uc003xzb.3	+	2	1637	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	350					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.F349L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ATGATATTTTCCAGCCTGGTA	0.473000														45			58		0	0	0.014410	0	0
IL5RA	3568	broad.mit.edu	37	3	3137086	3137086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:3137086C>T	uc011ask.2	-	8	1396	c.752G>A	c.(751-753)gGa>gAa	p.G251E	IL5RA_uc010hbq.3_Intron|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Missense_Mutation_p.G251E|IL5RA_uc011asl.2_Missense_Mutation_p.G251E|IL5RA_uc011asm.1_Missense_Mutation_p.G251E|IL5RA_uc010hbt.2_Missense_Mutation_p.G251E|IL5RA_uc011asn.1_Missense_Mutation_p.G251E|IL5RA_uc010hbu.2_Missense_Mutation_p.G251E	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	251					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)		GAGACGAGTTCCTTCAATCTC	0.358000														19			17		0	0	0.007413	0	0
MYL1	4632	broad.mit.edu	37	2	211163172	211163172	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:211163172C>T	uc002vec.3	-	2	405	c.276G>A	c.(274-276)agG>agA	p.R92R	MYL1_uc002veb.3_Silent_p.R48R	NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	92					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		CCAGAACTTTCCTGACCTCTG	0.478000														69			43		0	0	0.014410	0	0
VPS26B	112936	broad.mit.edu	37	11	134113052	134113052	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:134113052C>T	uc001qhe.3	+	3	1041	c.585C>T	c.(583-585)ttC>ttT	p.F195F		NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	Homo sapiens vacuolar protein sorting 26 homolog B (S. pombe) (VPS26B), mRNA.	195					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		AGATATACTTCCTGCTGGTGA	0.443000														31			19		0	0	0.014323	0	0
AADACL4	343066	broad.mit.edu	37	1	12711318	12711318	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:12711318C>T	uc001auf.3	+	1	345	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	115						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGCGAGGCATCATCTTCTACC	0.577000														5			27		0	0	0.006320	0	0
SGMS1	259230	broad.mit.edu	37	10	52071152	52071152	+	Silent	SNP	T	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:52071152T>C	uc001jje.3	-	8	1719	c.765A>G	c.(763-765)caA>caG	p.Q255Q	SGMS1_uc010qhk.2_Silent_p.Q86Q|SGMS1_uc009xot.1_Non-coding_Transcript|SGMS1_uc021pqn.1_Non-coding_Transcript|SGMS1_uc021pqo.1_Missense_Mutation_p.N216S	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	261					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TTCTTCGCAGTTGGGCTTCCC	0.453000														13			19		0	0	0.007413	0	0
WDR96	80217	broad.mit.edu	37	10	105903397	105903397	+	Splice_Site	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:105903397C>T	uc001kxw.3	-	32	4061	c.3945_splice	c.e32-1	p.R1315_splice	WDR96_uc009xxq.3_Splice_Site_p.R594_splice	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1315								p.R1315R(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTTTGGAAATCCTGGTATTAC	0.418000														18			17		0	0	0.004007	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27831771	27831771	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:27831771C>T	uc003szl.3	+	8	1367	c.1185C>T	c.(1183-1185)cgC>cgT	p.R395R	TAX1BP1_uc011jzo.2_Silent_p.R395R|TAX1BP1_uc003szk.3_Silent_p.R395R|TAX1BP1_uc011jzp.2_Silent_p.R238R	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	395	Oligomerization.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			ATACTGCACGCTTGGAAAACG	0.413000														154			106		0	0	0.014410	0	0
TSSK6	83983	broad.mit.edu	37	19	19625545	19625545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:19625545G>A	uc002nmr.3	-	0	925	c.692C>T	c.(691-693)cCc>cTc	p.P231L	TSSK6_uc002nmq.3_Non-coding_Transcript|YJEFN3_uc021uqu.1_5'Flank|YJEFN3_uc021uqv.1_5'Flank|YJEFN3_uc021uqw.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	Homo sapiens testis-specific serine kinase 6 (TSSK6), mRNA.	231	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GAGGCCTTCGGGATAGAGCAC	0.697000														44			23		0	0	0.003330	0	0
TLR3	7098	broad.mit.edu	37	4	187004218	187004218	+	Missense_Mutation	SNP	G	A	A	rs144550375		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:187004218G>A	uc003iyq.3	+	3	1479	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	TLR3_uc011ckz.2_Missense_Mutation_p.E183K|TLR3_uc003iyr.3_Missense_Mutation_p.E183K	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	460					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AAATATTTTCGAAATCTATCT	0.473000														30			21		0	0	0.012319	0	0
LRRN4	164312	broad.mit.edu	37	20	6022301	6022301	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:6022301C>T	uc002wmo.2	-	4	1814	c.1590G>A	c.(1588-1590)gaG>gaA	p.E530E		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	530	Poly-Glu.					integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TCCCTTCCTCCTCCTCACTGT	0.637000														80			61		0	0	0.014410	0	0
PROS1	5627	broad.mit.edu	37	3	93615439	93615439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:93615439G>A	uc003drb.4	-	8	1287	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	PROS1_uc010hoo.3_Missense_Mutation_p.R185C|PROS1_uc003dqz.4_Missense_Mutation_p.R185C	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	316	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.R316C(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TCTGGCAAACGAAATTTTAAA	0.408000														54			33		0	0	0.013726	0	0
POTEC	388468	broad.mit.edu	37	18	14543062	14543063	+	Missense_Mutation	DNP	AA	GC	GC	rs45469106		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:14543062_14543063AA>GC	uc010dln.3	-	0	537_538	c.83_84TT>GC	c.(82-84)ttt>tGC	p.F28C	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	28			F -> C (in dbSNP:rs45626231).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGCGGTGGTGAAACCACTTGCC	0.550000														82			5		0	0	0.004672	0	0
RBM47	54502	broad.mit.edu	37	4	40427972	40427972	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:40427972G>A	uc003gvc.2	-	6	2441	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	RBM47_uc003gvd.2_Silent_p.F508F|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.F539F	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	577	Ala-rich.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CAGCAGCAGGGAAGGCCTGAG	0.587000														35			34		0	0	0.013726	0	0
MGAT3	4248	broad.mit.edu	37	22	39884257	39884257	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:39884257C>T	uc003axv.4	+	1	1144	c.905C>T	c.(904-906)tCg>tTg	p.S302L	MGAT3_uc010gxy.3_Missense_Mutation_p.S302L	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	302					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	p.S302S(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GACGGCGTCTCGCGGCTGCGC	0.662000														53			56		0	0	0.014410	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5625835	5625835	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:5625835C>T	uc001mbf.3	+	2	842	c.579C>T	c.(577-579)atC>atT	p.I193I	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Silent_p.I139I|TRIM6-TRIM34_uc010qzj.2_5'UTR|TRIM6-TRIM34_uc001mbc.2_Silent_p.I165I|TRIM6-TRIM34_uc001mbe.3_5'UTR|TRIM6-TRIM34_uc001mbd.3_Silent_p.I193I|TRIM6-TRIM34_uc010qzk.2_5'UTR|TRIM6-TRIM34_uc010qzl.2_Intron|TRIM6-TRIM34_uc009yep.1_5'Flank	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	193						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CAGCTTTTATCAGAGAGAAGA	0.473000														49			36		0	0	0.003271	0	0
COL11A1	1301	broad.mit.edu	37	1	103491381	103491381	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:103491381G>A	uc001dum.3	-	5	1226	c.908C>T	c.(907-909)tCa>tTa	p.S303L	COL11A1_uc001duk.3_Intron|COL11A1_uc001dul.3_Intron|COL11A1_uc001dun.3_Intron|COL11A1_uc009weh.3_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	297	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGCTTTTGCTGATGCTTGATA	0.368000														74			44		0	0	0.008740	0	0
PML	5371	broad.mit.edu	37	15	74290467	74290467	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:74290467G>A	uc002awv.3	+	1	392	c.252G>A	c.(250-252)tcG>tcA	p.S84S	PML_uc002awj.1_Silent_p.S84S|PML_uc002awm.3_Silent_p.S84S|PML_uc002awl.3_Silent_p.S84S|PML_uc002awk.3_Silent_p.S84S|PML_uc002awn.3_Silent_p.S84S|PML_uc002awo.3_Silent_p.S84S|PML_uc002awp.3_Silent_p.S84S|PML_uc002awq.3_Silent_p.S84S|PML_uc002awr.3_Silent_p.S84S|PML_uc002aws.3_Silent_p.S84S|PML_uc002awt.3_Silent_p.S84S|PML_uc002awu.3_Silent_p.S84S|PML_uc010ule.2_Intron|PML_uc002aww.1_5'UTR	NM_033238	NP_150241	P29590	PML_HUMAN	Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.	84					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 resulting in induction of apoptosis|PML body organization|cell cycle arrest|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	PML body|cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus	DNA binding|SUMO binding|cobalt ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.S84S(4)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TGGAGGCGTCGGGCATGCAGT	0.642000			T	"""RARA, PAX5"""	"""APL, ALL"""									26			27		0	0	0.006320	0	0
PAPLN	89932	broad.mit.edu	37	14	73725746	73725746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:73725746C>T	uc010ttx.2	+	13	1850	c.1687C>T	c.(1687-1689)Cct>Tct	p.P563S	PAPLN_uc001xnw.4_Missense_Mutation_p.P536S|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.P563S|PAPLN_uc010arm.3_5'Flank	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	563						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCGTTGGGCCCTCAGGAGTC	0.647000														19			18		0	0	0.006122	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128842523	128842523	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:128842523C>A	uc009zcp.3	-	20	3836	c.3836G>T	c.(3835-3837)aGc>aTc	p.S1279I	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.S238I|ARHGAP32_uc001qez.3_Missense_Mutation_p.S930I	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1279					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome 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						CACATCCCAGCTGGCTTCCTT	0.562000														84			28		1.2476e-16	1.32933e-16	0.006320	1	0
CACNB4	785	broad.mit.edu	37	2	152729006	152729006	+	Splice_Site	SNP	T	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:152729006T>A	uc002tya.3	-	6	590	c.522_splice	c.e6-1	p.G174_splice	CACNB4_uc002txy.3_Splice_Site_p.G140_splice|CACNB4_uc002txz.3_Splice_Site_p.G156_splice|CACNB4_uc010fnz.3_Splice_Site_p.G174_splice|CACNB4_uc021vre.1_Splice_Site_p.G140_splice|CACNB4_uc002tyb.2_Splice_Site_p.G140_splice	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	174					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CCACTTGATTTCCTAGGATAT	0.383000														40			23		0	0	0.003330	0	0
ARGFX	503582	broad.mit.edu	37	3	121303784	121303784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:121303784G>A	uc003eef.3	+	3	336	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	81						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		AAGGCATAAAGAACGTACTTC	0.423000														92			68		0	0	0.014410	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418242	105418242	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:105418242G>A	uc010axc.1	-	6	3666	c.3546C>T	c.(3544-3546)atC>atT	p.I1182I	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.I1082I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1182						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGAGGCCTCGATGGACTTGC	0.597000														139			46		0	0	0.014410	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55038833	55038833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:55038833G>A	uc003dhf.3	+	31	2782	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	CACNA2D3_uc003dhg.1_Missense_Mutation_p.E818K|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	912						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGCCAACAAGGAAAGCAGCGA	0.458000														44			29		0	0	0.003271	0	0
CES3	23491	broad.mit.edu	37	16	67006373	67006373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:67006373G>A	uc002eqt.3	+	10	1485	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E	CES3_uc010cdz.3_Missense_Mutation_p.G469E|CES3_uc010viw.2_Missense_Mutation_p.G108E	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	469						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TTTGTGTTCGGAGGTCCCTTC	0.572000														74			50		0	0	0.014410	0	0
DAAM1	23002	broad.mit.edu	37	14	59798092	59798092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:59798092C>T	uc001xdz.1	+	13	1851	c.1726C>T	c.(1726-1728)Cct>Tct	p.P576S	DAAM1_uc001xea.1_Missense_Mutation_p.P576S	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	576	FH1.|Pro-rich.				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding	p.P576P(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		tggccctcctcctcccccAGG	0.632000														28			20		0	0	0.007413	0	0
BSN	8927	broad.mit.edu	37	3	49691891	49691891	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:49691891C>T	uc003cxe.4	+	4	5016	c.4902C>T	c.(4900-4902)gcC>gcT	p.A1634A		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1634					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCTGGGGTGCCCTCCCTGCTG	0.657000														16			11		0	0	0.010729	0	0
ALPK3	57538	broad.mit.edu	37	15	85370756	85370756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:85370756C>T	uc002ble.3	+	2	997	c.830C>T	c.(829-831)aCc>aTc	p.T277I		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	277					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACAGAGGAGACCCAGCCGCTA	0.552000														31			20		0	0	0.007413	0	0
MGAM	8972	broad.mit.edu	37	7	141755449	141755449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:141755449G>A	uc003vwy.3	+	27	3460	c.3406G>A	c.(3406-3408)Gaa>Aaa	p.E1136K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1136	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGCTTTGGGGAAACTGAGCA	0.542000														60			46		0	0	0.014410	0	0
SLC38A10	124565	broad.mit.edu	37	17	79219721	79219721	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:79219721C>T	uc002jzz.1	-	15	3370	c.2995G>A	c.(2995-2997)Gag>Aag	p.E999K	SLC38A10_uc002jzy.1_Missense_Mutation_p.E917K|SLC38A10_uc021uey.1_Missense_Mutation_p.E74K	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	999					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTCGGCTGCTCGTGGGACACA	0.701000														45			39		0	0	0.009718	0	0
SLC26A7	115111	broad.mit.edu	37	8	92365223	92365223	+	Splice_Site	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:92365223G>A	uc003yez.3	+	11	1553	c.1314_splice	c.e11+1	p.W438_splice	SLC26A7_uc003yex.3_Splice_Site_p.W438_splice|SLC26A7_uc003yey.3_Splice_Site|SLC26A7_uc003yfa.3_Splice_Site_p.W438_splice	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	438						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)			AAAATCGATTGGGTAAGTAGA	0.318000														47			32		0	0	0.012213	0	0
UNC45B	146862	broad.mit.edu	37	17	33513465	33513465	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:33513465C>T	uc002hja.3	+	19	2780	c.2683C>T	c.(2683-2685)Ctg>Ttg	p.L895L	UNC45B_uc002hjb.3_Silent_p.L893L|UNC45B_uc002hjc.3_Silent_p.L893L|UNC45B_uc010cto.3_Silent_p.L814L	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	895					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GCTGGAGATCCTGACTGTGGT	0.537000														33			26		0	0	0.003330	0	0
AK310441	0	broad.mit.edu	37	1	148891702	148891702	+	RNA	SNP	T	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:148891702T>C	uc009wkv.1	+	8		c.1004T>C								Homo sapiens cDNA, FLJ17483.																		AGACATCCAATCAGAACATTC	0.358000														33			8		0	0	0.004482	0	0
FAM46C	54855	broad.mit.edu	37	1	118165614	118165614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:118165614C>T	uc021osq.1	+	0	124	c.124C>T	c.(124-126)Cca>Tca	p.P42S	FAM46C_uc001ehe.3_Missense_Mutation_p.P42S	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	42										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AGGCAACTTTCCAACCTTGGA	0.572000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)				9			55		0	0	0.014410	0	0
GON4L	54856	broad.mit.edu	37	1	155735348	155735348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:155735348G>A	uc001flz.2	-	20	4013	c.3916C>T	c.(3916-3918)Cct>Tct	p.P1306S	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.P1306S|GON4L_uc009wrh.1_Missense_Mutation_p.P1306S|GON4L_uc001fma.1_Missense_Mutation_p.P1306S|GON4L_uc001fmb.4_Missense_Mutation_p.P502S|GON4L_uc001fmc.3_Missense_Mutation_p.P1306S|GON4L_uc001fmd.4_Missense_Mutation_p.P1306S|GON4L_uc009wri.3_Missense_Mutation_p.P892S	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1306					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATGCCCTGAGGGAGCGGCTCC	0.517000														46			20		0	0	0.010504	0	0
NR1D2	9975	broad.mit.edu	37	3	23997550	23997550	+	Silent	SNP	G	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:23997550G>T	uc003ccs.2	+	2	625	c.306G>T	c.(304-306)ctG>ctT	p.L102L	NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_Silent_p.L27L	NM_005126	NP_001138897	Q14995	NR1D2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA.	102					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TGGTTCTACTGTGTAAAGTCT	0.398000														77			47		2.73381e-35	2.94778e-35	0.014410	1	0
TDRKH	11022	broad.mit.edu	37	1	151751311	151751311	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:151751311C>T	uc009wnb.1	-	5	915	c.733G>A	c.(733-735)Gag>Aag	p.E245K	TDRKH_uc001eyy.2_Missense_Mutation_p.E21K|TDRKH_uc001ezb.4_Missense_Mutation_p.E241K|TDRKH_uc001ezc.4_Missense_Mutation_p.E200K|TDRKH_uc001eza.4_Missense_Mutation_p.E245K|TDRKH_uc001ezd.4_Missense_Mutation_p.E245K|TDRKH_uc010pdn.1_Missense_Mutation_p.E21K	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	245							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGTCGGCTCCATGCTAGAA	0.542000														62			54		0	0	0.014410	0	0
SLC22A15	55356	broad.mit.edu	37	1	116562312	116562312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:116562312G>A	uc001egb.4	+	2	540	c.410G>A	c.(409-411)gGa>gAa	p.G137E	SLC22A15_uc001ega.2_Missense_Mutation_p.G137E	NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	Homo sapiens solute carrier family 22, member 15 (SLC22A15), mRNA.	137					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GATCGCTTCGGAAGGAAAAAA	0.383000														17			15		0	0	0.003163	0	0
ZNF440	126070	broad.mit.edu	37	19	11943726	11943726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:11943726C>T	uc002msp.1	+	3	1891	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S	ZNF440_uc021upk.1_5'Flank	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	Homo sapiens zinc finger protein 440 (ZNF440), mRNA.	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGTGGGAAACCCTTCGGATCT	0.468000														20			14		0	0	0.002450	0	0
SIRPB2	284759	broad.mit.edu	37	20	1459118	1459118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:1459118C>T	uc002wfg.2	-	2	814	c.586G>A	c.(586-588)Gga>Aga	p.G196R	SIRPB2_uc002wfh.3_Missense_Mutation_p.G98R|SIRPB2_uc010zpr.1_Missense_Mutation_p.G58R	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA.	196	Ig-like V-type 2.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGACCAGCTCCCTGGAACCAC	0.577000														38			25		0	0	0.003330	0	0
KIF4B	285643	broad.mit.edu	37	5	154394896	154394896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:154394896G>A	uc010jih.1	+	0	1637	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	493					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)			TACTGCGGTAGAAGAAGAAGC	0.453000														13			43		0	0	0.014410	0	0
CNTN5	53942	broad.mit.edu	37	11	99827605	99827605	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:99827605C>T	uc001pga.3	+	7	1245	c.741C>T	c.(739-741)atC>atT	p.I247I	CNTN5_uc009ywv.2_Silent_p.I247I|CNTN5_uc001pfz.3_Silent_p.I247I|CNTN5_uc021qpb.1_Silent_p.I247I|CNTN5_uc021qpc.1_Silent_p.I173I	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	247	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGCGGTTCATCTCCCAGGAGA	0.428000														36			22		0	0	0.014323	0	0
MYH2	4620	broad.mit.edu	37	17	10443353	10443353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:10443353C>T	uc010coi.3	-	11	1167	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E347K|MYH2_uc010coj.3_Missense_Mutation_p.E347K	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	347	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E347K(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACCTTTTCTTCATTAGTAAAG	0.423000														53			33		0	0	0.004878	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77359862	77359862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:77359862C>T	uc002ffc.4	-	12	2352	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	ADAMTS18_uc010chc.1_Missense_Mutation_p.E233K|ADAMTS18_uc002ffe.1_Missense_Mutation_p.E341K	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	645	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AAGCTATTTTCATTGCAAGGG	0.403000														26			19		0	0	0.007413	0	0
KLKB1	3818	broad.mit.edu	37	4	187171498	187171498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:187171498C>T	uc003iyy.3	+	6	771	c.700C>T	c.(700-702)Cac>Tac	p.H234Y	KLKB1_uc011clc.2_Silent_p.I21I|KLKB1_uc011cld.2_Missense_Mutation_p.H196Y	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	234	Apple 3.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CTGCACCTATCACCCCAACTG	0.458000														62			52		0	0	0.014410	0	0
C2orf77	129881	broad.mit.edu	37	2	170507017	170507017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:170507017C>T	uc002ufe.2	-	6	1068	c.974G>A	c.(973-975)cGa>cAa	p.R325Q		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA.	325										endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2)	23						TCTTTCTCTTCGTTTCTCCAT	0.348000														11			11		0	0	0.010729	0	0
EEPD1	80820	broad.mit.edu	37	7	36194146	36194146	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:36194146C>T	uc003tfa.3	+	1	853	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA.	71					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GAGAGTATATCGGTGGCTTCA	0.592000														54			36		0	0	0.003755	0	0
CDH4	1002	broad.mit.edu	37	20	60348150	60348150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:60348150G>A	uc002ybn.2	+	3	576	c.488G>A	c.(487-489)gGg>gAg	p.G163E	CDH4_uc002ybr.2_Missense_Mutation_p.G126E|CDH4_uc002ybp.2_Missense_Mutation_p.G89E	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	163					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)			AACGCCAACGGGCTGAGGCGG	0.657000														17			13		0	0	0.001855	0	0
NUP210L	91181	broad.mit.edu	37	1	153998119	153998119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:153998119C>T	uc001fdw.3	-	29	4093	c.4021G>A	c.(4021-4023)Gaa>Aaa	p.E1341K	NUP210L_uc009woq.3_Missense_Mutation_p.E250K|NUP210L_uc010peh.2_Missense_Mutation_p.E1341K	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1341						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGGAGCCCTTCACCATCCTCC	0.478000														159			94		0	0	0.014410	0	0
OTOGL	283310	broad.mit.edu	37	12	80623121	80623121	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:80623121C>T	uc001szd.3	+	6	553	c.547C>T	c.(547-549)Cga>Tga	p.R183*		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGAGGAAATTCGAATTTATGG	0.348000														41			30		0	0	0.007291	0	0
GRID2	2895	broad.mit.edu	37	4	94547532	94547532	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:94547532G>A	uc011cdt.2	+	13	2564	c.2306G>A	c.(2305-2307)gGa>gAa	p.G769E	GRID2_uc011cdu.2_Missense_Mutation_p.G674E	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	769					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	p.G769G(1)		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)	GCTGATCGGGGATATGGAATT	0.388000														44			20		0	0	0.008871	0	0
MFGE8	4240	broad.mit.edu	37	15	89449929	89449929	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:89449929C>T	uc002bng.4	-	3	581	c.468G>A	c.(466-468)aaG>aaA	p.K156K	MFGE8_uc002bnf.4_Silent_p.K44K|MFGE8_uc002bnh.4_Silent_p.K156K|MFGE8_uc010bnn.3_Silent_p.K148K|MFGE8_uc010upq.2_Silent_p.K112K|MFGE8_uc010bno.3_Silent_p.K112K	NM_005928	NP_005919	Q08431	MFGM_HUMAN	Homo sapiens milk fat globule-EGF factor 8 protein (MFGE8), transcript variant 1, mRNA.	156	F5/8 type C 1.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCTTGAAGGCCTTCAGGTACT	0.537000														33			34		0	0	0.004289	0	0
ZNF782	158431	broad.mit.edu	37	9	99581721	99581721	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:99581721G>A	uc004awp.1	-	5	865	c.584C>T	c.(583-585)aCc>aTc	p.T195I	ZNF782_uc011lup.1_Missense_Mutation_p.T63I	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ATGATGGAGGGTTTTCACAAT	0.363000														20			22		0	0	0.014323	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351400	40351400	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:40351400C>T	uc003gva.1	+	3	883	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	289					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TGGCAGAAATCATGCCGGCCT	0.512000														62			58		0	0	0.014410	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	A	A	rs150520281	by1000genomes	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:21817457G>A	uc010vbl.1	-	6	603	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		CTTACATCCAGCTTGAGTAGT	0.259000														24			3		0	0	0.000602	0	0
RBM25	58517	broad.mit.edu	37	14	73580994	73580994	+	Splice_Site	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:73580994G>A	uc010ttu.2	+	19	2668	c.2392_splice	c.e19-1	p.V798_splice	RBM25_uc001xno.3_Splice_Site_p.V798_splice|RBM25_uc001xnp.3_Splice_Site_p.V593_splice	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	798	PWI.				RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TCTCTTTTAGGTTATGGCTCA	0.259000														24			12		0	0	0.001855	0	0
DGKH	160851	broad.mit.edu	37	13	42830421	42830421	+	Splice_Site	SNP	T	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:42830421T>C	uc001uyp.3	+	32		c.4234_splice	c.e32-1					Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 5, mRNA.						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		ATGCTTCAGTTTCCTTTACAG	0.448000														47			28		0	0	0.005443	0	0
FGFR3	2261	broad.mit.edu	37	4	1808298	1808298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:1808298G>A	uc003gdr.3	+	15	2312	c.2056G>A	c.(2056-2058)Gag>Aag	p.E686K	FGFR3_uc003gdu.2_Missense_Mutation_p.E688K|FGFR3_uc003gds.3_Missense_Mutation_p.E574K|FGFR3_uc003gdq.3_Missense_Mutation_p.G663E	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	686	Protein kinase.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.E686K(2)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCTGCTCTGGGAGATCTTCAC	0.652000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					28			11		0	0	0.008291	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559541	129559541	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:129559541C>T	uc009zyl.1	-	8	2507	c.2179G>A	c.(2179-2181)Gat>Aat	p.D727N	TMEM132D_uc001uia.2_Missense_Mutation_p.D265N	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	727						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCTTTCCCATCGTAAATATCC	0.468000														40			23		0	0	0.004656	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066504	46066504	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr21:46066504G>A	uc002zfr.4	+	0	174	c.129G>A	c.(127-129)ctG>ctA	p.L43L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	43	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CCCCCTCCCTGAGCCTGGTCT	0.711000														24			18		0	0	0.008871	0	0
PRRX1	5396	broad.mit.edu	37	1	170688913	170688913	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:170688913G>A	uc001ghf.3	+	1	335	c.288G>A	c.(286-288)agG>agA	p.R96R	PRRX1_uc001ghe.3_Silent_p.R96R	NM_022716	NP_073207	P54821	PRRX1_HUMAN	Homo sapiens paired related homeobox 1 (PRRX1), transcript variant pmx-1b, mRNA.	96						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCAGCGAAGGAATAGGACAA	0.473000														23			16		0	0	0.004007	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762825	92762825	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:92762825G>A	uc003umh.1	-	4	3676	c.2460C>T	c.(2458-2460)tcC>tcT	p.S820S	SAMD9L_uc003umj.1_Silent_p.S820S|SAMD9L_uc003umi.1_Silent_p.S820S|SAMD9L_uc010lfb.1_Silent_p.S820S|SAMD9L_uc003umk.1_Silent_p.S820S|SAMD9L_uc010lfc.1_Silent_p.S820S|SAMD9L_uc010lfd.1_Silent_p.S820S|SAMD9L_uc022ahh.1_Silent_p.S820S	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	820										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGCTAAAACGGAATGGATGG	0.378000														43			33		0	0	0.009535	0	0
ATRNL1	26033	broad.mit.edu	37	10	116975623	116975623	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:116975623T>G	uc001lcg.3	+	8	1903	c.1517T>G	c.(1516-1518)gTt>gGt	p.V506G		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	506						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)		AAATATGAAGTTAACACTAAG	0.303000														15			13		0	0	0.002450	0	0
GDAP1	54332	broad.mit.edu	37	8	75263658	75263658	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:75263658G>A	uc003yah.3	+	1	346	c.267G>A	c.(265-267)gaG>gaA	p.E89E	GDAP1_uc011lfj.2_Intron|GDAP1_uc003yai.3_Silent_p.E21E	NM_018972	NP_001035808	Q8TB36	GDAP1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1 (GDAP1), transcript variant 1, mRNA.	89	GST N-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TAATTTGTGAGGCCACTCAGA	0.418000														65			60		0	0	0.014410	0	0
SAMD7	344658	broad.mit.edu	37	3	169644351	169644351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:169644351G>A	uc003fgd.3	+	5	568	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	SAMD7_uc003fge.3_Missense_Mutation_p.E101K|SAMD7_uc011bpo.2_Missense_Mutation_p.E2K	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	101								p.E101K(2)		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)			GACAGAAATGGAAATGTATGC	0.388000														17			9		0	0	0.010729	0	0
VILL	50853	broad.mit.edu	37	3	38038579	38038579	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:38038579C>T	uc003chj.3	+	5	748	c.462C>T	c.(460-462)tcC>tcT	p.S154S	VILL_uc003chk.1_Silent_p.S154S|VILL_uc003chl.3_Silent_p.S154S|VILL_uc010hgu.3_5'UTR	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	154					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGAGCTCTCCTGGAACAGCT	0.542000											OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		58			32		0	0	0.012213	0	0
TTBK1	84630	broad.mit.edu	37	6	43251561	43251561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:43251561C>T	uc003ouq.1	+	13	3362	c.3083C>T	c.(3082-3084)tCc>tTc	p.S1028F	TTBK1_uc021yzs.1_Missense_Mutation_p.S316F	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	1028						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)			GCCCCGGTGTCCCCGCTGGAG	0.677000														27			25		0	0	0.004656	0	0
ZNF319	57567	broad.mit.edu	37	16	58031661	58031661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:58031661G>A	uc002emx.1	-	1	1132	c.509C>T	c.(508-510)gCt>gTt	p.A170V	ZNF319_uc021tjd.1_Missense_Mutation_p.A170V	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CGCTGCCTCAGCTGGCTTGTA	0.622000														122			89		0	0	0.014410	0	0
OTOL1	131149	broad.mit.edu	37	3	161214600	161214600	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:161214600G>A	uc011bpb.2	+	0	5	c.5G>A	c.(4-6)tGg>tAg	p.W2*		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	2						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TCAAATATGTGGATGTTTTCT	0.299000														6			7		0	0	0.001984	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37431162	37431162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:37431162G>A	uc021ppc.1	+	6	1268	c.1169G>A	c.(1168-1170)aGa>aAa	p.R390K	ANKRD30A_uc001iza.1_Missense_Mutation_p.R390K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	446						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						GAAAAAGGAAGATCTAAGATG	0.383000														20			17		0	0	0.006122	0	0
FAM9B	171483	broad.mit.edu	37	X	9000489	9000489	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:9000489G>A	uc004csh.3	-	1	366	c.177C>T	c.(175-177)gtC>gtT	p.V59V	FAM9B_uc011mhu.2_Silent_p.V14V			Q8IZU0	FAM9B_HUMAN	Homo sapiens family with sequence similarity 9, member B (FAM9B), mRNA.	14						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				ATTCATCACGGACTGGATCCT	0.393000														3			53		0	0	0.014410	0	0
PTPN3	5774	broad.mit.edu	37	9	112145746	112145746	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:112145746G>A	uc004bed.2	-	22	2451	c.2339C>T	c.(2338-2340)aCc>aTc	p.T780I	PTPN3_uc004beb.2_Missense_Mutation_p.T649I|PTPN3_uc004bec.2_Missense_Mutation_p.T604I|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.T735I|PTPN3_uc011lwh.1_Missense_Mutation_p.T626I|PTPN3_uc011lwd.1_Missense_Mutation_p.T248I|PTPN3_uc011lwe.1_Missense_Mutation_p.T493I|PTPN3_uc011lwf.1_Missense_Mutation_p.T448I	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	780	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ATAGGCGATGGTGCAGTCCTC	0.592000														72			50		0	0	0.014410	0	0
G6PD	2539	broad.mit.edu	37	X	153762623	153762623	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:153762623G>A	uc004fly.1	-	5	687	c.574C>T	c.(574-576)Cgt>Tgt	p.R192C	G6PD_uc004flx.1_Missense_Mutation_p.R222C	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.	192					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGTCCTCACGGAACAGGGAG	0.637000														3			31		0	0	0.009535	0	0
NUP210L	91181	broad.mit.edu	37	1	154108432	154108432	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:154108432C>T	uc001fdw.3	-	6	939	c.867G>A	c.(865-867)ctG>ctA	p.L289L	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Silent_p.L289L	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	289						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TATAATGTTCCAGGGGAAATT	0.383000														24			9		0	0	0.004482	0	0
CCDC132	55610	broad.mit.edu	37	7	92887687	92887687	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:92887687T>G	uc003umo.3	+	7	687	c.559T>G	c.(559-561)Tta>Gta	p.L187V	CCDC132_uc003ump.3_Missense_Mutation_p.L157V|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Intron|CCDC132_uc003umn.3_Missense_Mutation_p.L187V	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	187										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)			AGATGTACGGTTAAGTGAAAT	0.303000														35			23		0	0	0.006320	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130370480	130370480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:130370480G>A	uc003qbt.3	+	3	332	c.156G>A	c.(154-156)atG>atA	p.M52I	L3MBTL3_uc003qbu.3_Missense_Mutation_p.M52I	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA.	52					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AGAATGAGATGGAAAATGTTA	0.393000														23			11		0	0	0.001855	0	0
NUP98	4928	broad.mit.edu	37	11	3803334	3803334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:3803334G>A	uc001lyh.3	-	1	435	c.14C>T	c.(13-15)tCa>tTa	p.S5L	NUP98_uc001lyi.3_Missense_Mutation_p.S5L|NUP98_uc001lyj.2_Missense_Mutation_p.S5L|NUP98_uc001lyk.2_Missense_Mutation_p.S5L|NUP98_uc010qxv.2_Missense_Mutation_p.S5L	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	5					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	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)		TGTTCCAAATGATTTGTTAAA	0.358000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									21			14		0	0	0.002450	0	0
ZNF395	55893	broad.mit.edu	37	8	28218600	28218600	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:28218600G>A	uc003xgq.3	-	1	130	c.42C>T	c.(40-42)ctC>ctT	p.L14L	ZNF395_uc003xgt.3_Silent_p.L14L|ZNF395_uc003xgr.3_Silent_p.L14L|ZNF395_uc003xgs.3_Silent_p.L14L	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	14					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGGCTCCCAGGAGGGACCGCT	0.687000														39			32		0	0	0.013726	0	0
PCLO	27445	broad.mit.edu	37	7	82453677	82453677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:82453677G>A	uc003uhx.2	-	18	14760	c.14471C>T	c.(14470-14472)cCt>cTt	p.P4824L	PCLO_uc003uhv.2_Missense_Mutation_p.P4824L|PCLO_uc003uht.1_Missense_Mutation_p.P266L|PCLO_uc003uhu.1_Missense_Mutation_p.P245L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4686					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						TTCTTTGAGAGGATACCACCT	0.398000														32			15		0	0	0.006122	0	0
OR2A25	392138	broad.mit.edu	37	7	143771930	143771930	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:143771930G>A	uc011ktx.2	+	0	618	c.618G>A	c.(616-618)ctG>ctA	p.L206L		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGTCTGTGCTGGTGGGAGCCT	0.438000														54			64		0	0	0.014410	0	0
DPY19L4	286148	broad.mit.edu	37	8	95802053	95802053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:95802053C>T	uc003ygx.2	+	18	2211	c.2087C>T	c.(2086-2088)cCa>cTa	p.P696L		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	696						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AACTATTCTCCATATGTGAAT	0.323000														228			125		0	0	0.014410	0	0
OSBP2	23762	broad.mit.edu	37	22	31137152	31137152	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:31137152C>T	uc003aiy.1	+	1	753	c.649C>T	c.(649-651)Cag>Tag	p.Q217*	OSBP2_uc011ala.1_Nonsense_Mutation_p.Q52*|OSBP2_uc010gwc.1_Nonsense_Mutation_p.Q44*|OSBP2_uc003aix.1_Nonsense_Mutation_p.Q217*|OSBP2_uc011alb.1_Nonsense_Mutation_p.Q217*|OSBP2_uc003aiz.1_Nonsense_Mutation_p.Q217*	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	217	PH.				lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CTACAGAAATCAGGGTGAAAT	0.532000														11			11		0	0	0.013537	0	0
MGA	23269	broad.mit.edu	37	15	42041983	42041983	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:42041983C>T	uc010ucy.2	+	16	6359	c.6178C>T	c.(6178-6180)Caa>Taa	p.Q2060*	MGA_uc010ucz.2_Nonsense_Mutation_p.Q1851*|MGA_uc010uda.1_Nonsense_Mutation_p.Q676*|MGA_uc001zoi.3_Nonsense_Mutation_p.Q274*	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2021						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ACATACAGATCAAGATTATAA	0.403000														60			41		0	0	0.009718	0	0
CNOT1	23019	broad.mit.edu	37	16	58568274	58568274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:58568274G>A	uc002env.3	-	39	5965	c.5672C>T	c.(5671-5673)aCc>aTc	p.T1891I	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.T1886I|CNOT1_uc002ent.3_5'Flank|CNOT1_uc010vik.2_Missense_Mutation_p.T848I	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1891					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GAGATCATCGGTCTTCAGTAT	0.398000														10			11		0	0	0.010729	0	0
CACNA2D1	781	broad.mit.edu	37	7	81591339	81591339	+	Splice_Site	SNP	A	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:81591339A>G	uc003uhr.1	-	36	3093	c.2837_splice	c.e36-1	p.V946_splice	CACNA2D1_uc011kgy.1_Splice_Site_p.V158_splice	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	958						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTCCATCTCAACTTGGGTGGC	0.473000														40			28		0	0	0.008361	0	0
CCDC73	493860	broad.mit.edu	37	11	32663598	32663598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:32663598C>T	uc001mtv.3	-	12	1014	c.970G>A	c.(970-972)Gag>Aag	p.E324K	CCDC73_uc001mtw.1_Missense_Mutation_p.E314K	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	324								p.E324D(1)		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)					TTTACCTTCTCCCTTTGCAGC	0.289000														8			7		0	0	0.001984	0	0
LSAMP	4045	broad.mit.edu	37	3	115738374	115738374	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:115738374G>T	uc011bis.2	-	2	1009	c.502C>A	c.(502-504)Ctt>Att	p.L168I	LSAMP_uc003ebs.3_Missense_Mutation_p.L168I	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA.	168	Ig-like C2-type 2.				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)		GTTGGTGTAAGGTGTCTCCAG	0.463000														18			11		0.00829132	0.00861503	0.008291	1	0
GPR37L1	9283	broad.mit.edu	37	1	202097473	202097473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:202097473C>T	uc001gxj.3	+	1	1298	c.1235C>T	c.(1234-1236)aCc>aTc	p.T412I		NM_004767	NP_004758	O60883	ETBR2_HUMAN	Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA.	412						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GGCGCCATCACCCCAGTGCTG	0.652000														28			26		0	0	0.007291	0	0
OR6M1	390261	broad.mit.edu	37	11	123676143	123676143	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:123676143G>A	uc010rzz.2	-	0	915	c.915C>T	c.(913-915)atC>atT	p.I305I		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TCAAGGTCATGATTCTGTTCA	0.388000														57			24		0	0	0.004656	0	0
PTPRN	5798	broad.mit.edu	37	2	220167369	220167369	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:220167369G>A	uc002vkz.3	-	4	809	c.568C>T	c.(568-570)Ctg>Ttg	p.L190L	PTPRN_uc010zlc.2_Silent_p.L100L|PTPRN_uc002vla.3_Silent_p.L190L	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	190					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.L189M(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGTGGGGGCAGCAGCAGGTGC	0.627000														33			30		0	0	0.003755	0	0
VANGL1	81839	broad.mit.edu	37	1	116228028	116228028	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:116228028C>T	uc001efv.1	+	6	1465	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	VANGL1_uc009wgy.1_Silent_p.F396F|VANGL1_uc021ose.1_Silent_p.F398F	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	Homo sapiens vang-like 1 (van gogh, Drosophila) (VANGL1), transcript variant 1, mRNA.	398					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGGCCATTTTCCCCTCCATGG	0.612000														5			40		0	0	0.008740	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123687198	123687198	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:123687198G>A	uc001uel.3	-	5	1406	c.1298C>T	c.(1297-1299)tCc>tTc	p.S433F	MPHOSPH9_uc010tal.2_Intron|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_Intron	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	433					M phase of mitotic cell cycle	Golgi membrane|centriole				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ATCTTCCAAGGAAGTCAATGA	0.393000														25			18		0	0	0.007413	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147716	100147716	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:100147716C>T	uc003knk.3	-	4	1243	c.915G>A	c.(913-915)aaG>aaA	p.K305K		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	305					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CATTTAAATCCTTAGGGAAGG	0.373000														4			15		0	0	0.002450	0	0
OR51I1	390063	broad.mit.edu	37	11	5462139	5462139	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:5462139G>A	uc010qze.2	-	0	645	c.606C>T	c.(604-606)ctC>ctT	p.L202L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATCACCAAGAGCCCATAAA	0.443000														18			18		0	0	0.004990	0	0
PGM5	5239	broad.mit.edu	37	9	71006611	71006611	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:71006611G>T	uc004agr.3	+	4	1088	c.859G>T	c.(859-861)Gga>Tga	p.G287*		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	287					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						AGGAGAATATGGATTTGGAGC	0.463000														46			25		1.75199e-13	1.85831e-13	0.007291	1	0
RNF150	57484	broad.mit.edu	37	4	141789438	141789438	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:141789438C>T	uc003iio.1	-	6	1948	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N	RNF150_uc010iok.1_Missense_Mutation_p.D390N	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	432						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TCTTCACAGTCCTGGTCAGTG	0.483000														28			12		0	0	0.010729	0	0
HECTD1	25831	broad.mit.edu	37	14	31626487	31626487	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:31626487G>A	uc001wrc.1	-	10	2134	c.1645C>T	c.(1645-1647)Cga>Tga	p.R549*	HECTD1_uc001wrd.1_Nonsense_Mutation_p.R64*	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	549					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATCATTTTTCGAATTAGAGCA	0.308000														38			27		0	0	0.004656	0	0
KEL	3792	broad.mit.edu	37	7	142649704	142649704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:142649704C>T	uc003wcb.3	-	9	1305	c.1095G>A	c.(1093-1095)atG>atA	p.M365I		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	365					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.M365I(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCCTAAGATCATGTGGCTCT	0.527000														28			21		0	0	0.002780	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406625	105406625	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:105406625C>A	uc010axc.1	-	6	15283	c.15163G>T	c.(15163-15165)Ggg>Tgg	p.G5055W	AHNAK2_uc021sen.1_Missense_Mutation_p.G452W|AHNAK2_uc021seo.1_Missense_Mutation_p.G53W|AHNAK2_uc001ypx.2_Missense_Mutation_p.G4955W	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5055						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAGCTACCCCCTGCTGTGGCA	0.542000														80			38		1.67305e-13	1.77619e-13	0.006230	1	0
CSMD2	114784	broad.mit.edu	37	1	34076734	34076734	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:34076734G>A	uc001bxm.1	-	40	6427	c.6250C>T	c.(6250-6252)Cca>Tca	p.P2084S	CSMD2_uc001bxn.1_Missense_Mutation_p.P2044S|CSMD2_uc001bxo.1_Missense_Mutation_p.P957S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2044						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)				AGGGAGCTTGGAAGCTCGCTT	0.557000														9			76		0	0	0.014410	0	0
SLC15A2	6565	broad.mit.edu	37	3	121643824	121643824	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:121643824C>T	uc003eep.2	+	12	1221	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	SLC15A2_uc011bjn.1_Silent_p.I325I	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	356					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TTATCTTCATCCCGTTGTTTG	0.383000														89			31		0	0	0.013726	0	0
NPAS4	266743	broad.mit.edu	37	11	66192014	66192014	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:66192014G>A	uc001ohx.1	+	6	1829	c.1653G>A	c.(1651-1653)gaG>gaA	p.E551E	NPAS4_uc010rpc.1_Silent_p.E341E	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	551					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						CCTTCCCAGAGCAACTGAGCC	0.582000														105			68		0	0	0.014410	0	0
C1orf173	127254	broad.mit.edu	37	1	75055579	75055579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:75055579C>T	uc001dgg.3	-	11	2131	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E432K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	638	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						TCTAAGGATTCCTCAATTGGA	0.413000														48			36		0	0	0.004878	0	0
ZFPM2	23414	broad.mit.edu	37	8	106646527	106646527	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:106646527G>A	uc003ymd.3	+	4	497	c.474G>A	c.(472-474)ctG>ctA	p.L158L		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	158					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGTGGTTGCTGGATGTGACTT	0.428000														13			9		0	0	0.008291	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67200847	67200847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:67200847G>A	uc001old.3	+	9	917	c.835G>A	c.(835-837)Gat>Aat	p.D279N	RPS6KB2_uc021qmi.1_Missense_Mutation_p.D2N	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 2 (RPS6KB2), mRNA.	279	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GAAAACCATGGATAAGATCAT	0.627000														54			44		0	0	0.014410	0	0
IGDCC3	9543	broad.mit.edu	37	15	65628235	65628235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:65628235G>A	uc002aos.2	-	2	721	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	157	Ig-like C2-type 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CACTGGAAGCGGGCCACACCA	0.592000														46			40		0	0	0.007835	0	0
SLFN13	146857	broad.mit.edu	37	17	33772081	33772081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:33772081G>A	uc002hjk.1	-	0	949	c.619C>T	c.(619-621)Cct>Tct	p.P207S	SLFN13_uc010wch.1_Missense_Mutation_p.P207S|SLFN13_uc002hjl.2_Missense_Mutation_p.P207S|SLFN13_uc002hjm.2_Intron|SLFN13_uc010ctt.2_Intron	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	207						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGAGACTCAGGAAAAGATAGG	0.328000														50			40		0	0	0.006999	0	0
VN1R4	317703	broad.mit.edu	37	19	53770607	53770607	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:53770607G>A	uc010ydu.2	-	0	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	104					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TGATCACCTGGAAGACACTCA	0.488000										HNSCC(26;0.072)				19			13		0	0	0.001855	0	0
SLC27A5	10998	broad.mit.edu	37	19	59022207	59022207	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:59022207C>T	uc002qtc.2	-	1	889	c.779G>A	c.(778-780)gGg>gAg	p.G260E		NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	260					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AGCCCCCACCCCTGGTGTAGG	0.637000														27			29		0	0	0.007291	0	0
FUT9	10690	broad.mit.edu	37	6	96651295	96651295	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:96651295C>T	uc003pop.4	+	2	605	c.264C>T	c.(262-264)atC>atT	p.I88I	FUT9_uc021zcw.1_Silent_p.I88I	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	88					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TGTTCAACATCCAAGGATGCC	0.448000														47			36		0	0	0.005524	0	0
PAPPA	5069	broad.mit.edu	37	9	118949457	118949457	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:118949457T>A	uc004bjn.3	+	1	821	c.440T>A	c.(439-441)aTc>aAc	p.I147N	PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.2_5'UTR	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	147					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTCTTATATCTCACGTGAC	0.453000														31			34		0	0	0.006230	0	0
C1R	715	broad.mit.edu	37	12	7242713	7242713	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:7242713G>A	uc010sfy.2	-	2	422	c.363C>T	c.(361-363)tcC>tcT	p.S121S	C1R_uc010sfz.1_Silent_p.S135S|C1R_uc021quh.1_Silent_p.S10S|C1R_uc010sga.1_Silent_p.S87S	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	121	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCTCCTCGTTGGAGAAGTCTG	0.547000														9			7		0	0	0.004482	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27500791	27500791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:27500791G>A	uc002rjl.1	+	3	701	c.283G>A	c.(283-285)Gac>Aac	p.D95N	SLC30A3_uc010ylh.2_5'Flank|DNAJC5G_uc010yli.1_Intron|DNAJC5G_uc002rjm.1_Missense_Mutation_p.D95N	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 gamma (DNAJC5G), mRNA.	95	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAAATTTACGACCAGCATGG	0.418000														36			26		0	0	0.004656	0	0
KALRN	8997	broad.mit.edu	37	3	124175505	124175505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:124175505C>T	uc003ehg.3	+	22	3905	c.3778C>T	c.(3778-3780)Cgg>Tgg	p.R1260W	KALRN_uc010hrv.1_Missense_Mutation_p.R1251W|KALRN_uc003ehf.1_Missense_Mutation_p.R1260W|KALRN_uc011bjy.1_Missense_Mutation_p.R1251W|KALRN_uc003ehh.1_Missense_Mutation_p.R606W	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1260					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R1260R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCTTTCGGATCGGGAGGTCAA	0.537000														44			30		0	0	0.009535	0	0
FANK1	92565	broad.mit.edu	37	10	127677178	127677178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:127677178C>T	uc009yan.3	+	2	354	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	FANK1_uc010quk.1_Missense_Mutation_p.R78C|FANK1_uc001ljh.4_Missense_Mutation_p.R84C|FANK1_uc001lji.3_Missense_Mutation_p.R78C	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	84	Fibronectin type-III.					cytoplasm|nucleus		p.R84H(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GTACAGATTTCGCCTGAAGGT	0.522000														99			68		0	0	0.014410	0	0
C6orf221	154288	broad.mit.edu	37	6	74072820	74072820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:74072820C>T	uc003pgt.4	+	1	225	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	58	KH; atypical.									NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						CCGCGCAGGCCGGGGCGGAGA	0.612000														42			15		0	0	0.002450	0	0
KRT25	147183	broad.mit.edu	37	17	38911513	38911513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:38911513C>T	uc002hve.3	-	0	72	c.11G>A	c.(10-12)cGa>cAa	p.R4Q		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	4	Head.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ACTGGAAAGTCGAAGAGACAT	0.488000														26			16		0	0	0.004990	0	0
RALGDS	5900	broad.mit.edu	37	9	135983586	135983586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:135983586G>A	uc004cco.3	-	5	1006	c.986C>T	c.(985-987)cCa>cTa	p.P329L	RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.P317L|RALGDS_uc004ccr.3_Missense_Mutation_p.P328L|RALGDS_uc011mcv.2_Missense_Mutation_p.P300L|RALGDS_uc004ccs.3_Missense_Mutation_p.P274L|RALGDS_uc011mcw.2_Missense_Mutation_p.P400L|RALGDS_uc004ccv.1_Missense_Mutation_p.P98L|RALGDS_uc004ccu.1_Missense_Mutation_p.P98L	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	329					Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGCTGGCGCTGGAGCCGATTC	0.587000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									29			24		0	0	0.014323	0	0
DSG1	1828	broad.mit.edu	37	18	28916319	28916319	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:28916319C>T	uc002kwp.3	+	8	1220	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	336	Cadherin 3.				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)			TTTTCTAGCCCTTAGATTATG	0.289000														16			8		0	0	0.003080	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119243	38119243	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:38119243G>C	uc003atr.3	+	6	951	c.680G>C	c.(679-681)gGa>gCa	p.G227A	TRIOBP_uc003atu.3_Missense_Mutation_p.G55A|TRIOBP_uc003atq.1_Missense_Mutation_p.G227A|TRIOBP_uc003ats.1_Missense_Mutation_p.G55A	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	227					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGGCTCCGGGGAGAAAGCGGG	0.647000														12			9		0	0	0.004482	0	0
FSHR	2492	broad.mit.edu	37	2	49216169	49216169	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:49216169G>A	uc002rww.3	-	5	581	c.471C>T	c.(469-471)atC>atT	p.I157I	FSHR_uc010fbn.3_Intron|FSHR_uc002rwx.3_Silent_p.I157I|FSHR_uc010fbo.2_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	157					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CAATTGTGTGGATGTTTATGT	0.338000									Gonadal Dysgenesis, 46 XX					15			9		0	0	0.008291	0	0
MEIS1	4211	broad.mit.edu	37	2	66691305	66691305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:66691305C>T	uc002sdu.3	+	6	1152	c.695C>T	c.(694-696)tCc>tTc	p.S232F	MEIS1_uc002sdt.3_Missense_Mutation_p.S232F|MEIS1_uc010yqh.2_Non-coding_Transcript|MEIS1_uc010yqi.2_Missense_Mutation_p.S167F|MEIS1_uc002sdw.1_Missense_Mutation_p.S88F	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Homo sapiens Meis homeobox 1 (MEIS1), mRNA.	232	Ser/Thr-rich.						sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CCAGGCCCTTCCAGCGGTGGC	0.493000														7			5		0	0	0.000602	0	0
TRPC5	7224	broad.mit.edu	37	X	111195414	111195414	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:111195414C>T	uc004epl.1	-	1	1154	c.235G>A	c.(235-237)Gag>Aag	p.E79K	TRPC5_uc004epm.1_Missense_Mutation_p.E79K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	79					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCTCGTTCTCAATGGCAATG	0.532000														8			44		0	0	0.013114	0	0
AV8S2	0	broad.mit.edu	37	14	22386781	22386781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:22386781C>T	uc001wch.2	+	1	271	c.193C>T	c.(193-195)Cct>Tct	p.P65S	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|AV8S2_uc010aiy.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 7.																		TGGAAAAGGTCCTCAATTCAT	0.403000														31			17		0	0	0.007413	0	0
CFHR1	3078	broad.mit.edu	37	1	196757478	196757478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:196757478G>A	uc001gtl.3	+	3	650	c.563G>A	c.(562-564)gGa>gAa	p.G188E	CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.G188E|CFHR1_uc010poy.2_Intron|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	187	Sushi 3.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AATTCTTCAGGATCAATTACA	0.323000														39			30		0	0	0.003271	0	0
PRX	57716	broad.mit.edu	37	19	40903777	40903777	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:40903777G>A	uc002onr.3	-	6	751	c.482C>T	c.(481-483)cCc>cTc	p.P161L	PRX_uc002onq.3_Missense_Mutation_p.P22L|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	161	Arg/Lys-rich (basic).				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)			GGAGAACTTGGGAAAGGAGAA	0.662000														13			12		0	0	0.013537	0	0
XPO5	57510	broad.mit.edu	37	6	43543521	43543521	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:43543521C>A	uc003ovp.3	-	0	292	c.81G>T	c.(79-81)caG>caT	p.Q27H	POLH_uc010jyu.2_5'Flank|POLH_uc011dvl.1_5'Flank|POLH_uc003ovq.4_5'Flank	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	Homo sapiens exportin 5 (XPO5), mRNA.	27	Necessary for interaction with Ran.				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GCCGGTAGCGCTGGGTGGAGT	0.672000														72			49		1.78197e-24	1.91088e-24	0.014410	1	0
SFRP2	6423	broad.mit.edu	37	4	154702656	154702656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:154702656C>T	uc003inv.1	-	2	1076	c.835G>A	c.(835-837)Ggg>Agg	p.G279R		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	279	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TCTCTCTGCCCCTTCTGCCAC	0.612000														23			23		0	0	0.003330	0	0
FOXC2	2303	broad.mit.edu	37	16	86601502	86601503	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:86601502_86601503CC>TT	uc002fjq.3	+	0	646_647	c.561_562CC>TT	c.(559-564)cccccg>ccTTcg	p.P188S		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	Homo sapiens forkhead box C2 (MFH-1, mesenchyme forkhead 1) (FOXC2), mRNA.	188					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						AGGAGCCGCCCCCGGCGGCGTC	0.698000									Late-onset Hereditary Lymphedema					20			14		0	0	0.004672	0	0
KLHL13	90293	broad.mit.edu	37	X	117079498	117079498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:117079498G>A	uc011mtp.2	-	2	281	c.148C>T	c.(148-150)Ctt>Ttt	p.L50F	KLHL13_uc004eqk.3_5'UTR|KLHL13_uc004eql.3_Missense_Mutation_p.L47F|KLHL13_uc011mtn.2_5'UTR|KLHL13_uc011mto.2_Missense_Mutation_p.L41F|KLHL13_uc011mtq.2_Missense_Mutation_p.L31F|KLHL13_uc004eqm.3_Missense_Mutation_p.L5F|KLHL13_uc022cde.1_Missense_Mutation_p.L31F	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	47					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CTGCCTCCAAGGGACAATTTC	0.428000														2			31		0	0	0.009535	0	0
SRRT	51593	broad.mit.edu	37	7	100483874	100483874	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:100483874G>A	uc003uwy.2	+	12	1732	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	SRRT_uc010lhl.1_Missense_Mutation_p.E488K|SRRT_uc003uxa.2_Missense_Mutation_p.E488K|SRRT_uc003uwz.2_Missense_Mutation_p.E489K	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	489					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCAGCTCCGGGAGTGTGAGCT	0.582000														26			17		0	0	0.007413	0	0
NES	10763	broad.mit.edu	37	1	156640816	156640816	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:156640816G>T	uc001fpq.3	-	3	3297	c.3164C>A	c.(3163-3165)gCt>gAt	p.A1055D	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1055	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|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)					CCCCTGGGGAGCCTGGAGGCC	0.662000														38			44		9.39024e-22	1.00512e-21	0.009718	1	0
CSRP2BP	57325	broad.mit.edu	37	20	18142540	18142540	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:18142540A>T	uc021wbb.1	+	4	1196	c.759A>T	c.(757-759)gaA>gaT	p.E253D	CSRP2BP_uc002wqk.3_Missense_Mutation_p.E125D|CSRP2BP_uc010zru.2_Missense_Mutation_p.E124D	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	253					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ATCCTGTGGAATCTGCCATGG	0.443000														77			49		0	0	0.014410	0	0
CIB3	117286	broad.mit.edu	37	19	16280506	16280506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:16280506C>T	uc002nds.3	-	2	133	c.133G>A	c.(133-135)Gac>Aac	p.D45N	CIB3_uc010eae.3_5'UTR|CIB3_uc010eaf.3_Intron|CIB3_uc010eag.3_Intron	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA.	45							calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						GTGGTATAGTCGAGGGGCACG	0.582000														19			16		0	0	0.006122	0	0
DNAH9	1770	broad.mit.edu	37	17	11713572	11713572	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:11713572G>A	uc002gne.3	+	44	8661	c.8593G>A	c.(8593-8595)Gcc>Acc	p.A2865T	DNAH9_uc010coo.3_Missense_Mutation_p.A2159T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2865	AAA 4 (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)		GATGGACCTGGCCAGCCTGTG	0.448000														46			35		0	0	0.003755	0	0
FBXO43	286151	broad.mit.edu	37	8	101146506	101146506	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:101146506C>T	uc003yjd.3	-	3	2497	c.1761G>A	c.(1759-1761)agG>agA	p.R587R	FBXO43_uc003yje.3_Silent_p.R553R	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	587					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AACCAGGTATCCTAGCCTGTG	0.478000														59			36		0	0	0.005524	0	0
CNTN4	152330	broad.mit.edu	37	3	2928860	2928860	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:2928860G>A	uc003bpc.3	+	9	1231	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.E298K|CNTN4_uc003bpd.1_Missense_Mutation_p.E298K	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	298	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATGTGTAGCTGAAAATTCCAG	0.378000														17			7		0	0	0.003080	0	0
TACC2	10579	broad.mit.edu	37	10	123848060	123848060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:123848060G>A	uc001lfv.3	+	4	5887	c.5527G>A	c.(5527-5529)Gat>Aat	p.D1843N	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.D1843N|TACC2_uc010qtv.2_Missense_Mutation_p.D1843N	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1843						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGAGTCATGGATAAAGTCAC	0.458000														26			15		0	0	0.004990	0	0
PLCL2	23228	broad.mit.edu	37	3	17053118	17053118	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:17053118C>T	uc011awc.2	+	2	2352	c.2256C>T	c.(2254-2256)atC>atT	p.I752I	PLCL2_uc011awd.2_Silent_p.I634I	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	760	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.H751Q(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ACATTAAAATCATCAGTGGGC	0.488000														18			12		0	0	0.010729	0	0
GPC6	10082	broad.mit.edu	37	13	95055279	95055279	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:95055279C>T	uc001vlt.3	+	8	2108	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S		NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	492						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GTGATGAATCCAGTGGCTCAG	0.512000														98			74		0	0	0.014410	0	0
PSG3	5671	broad.mit.edu	37	19	43237134	43237134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:43237134G>A	uc002oue.3	-	2	643	c.511C>T	c.(511-513)Cct>Tct	p.P171S	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	171	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGAGTCTCAGGATCACAGGTT	0.522000														112			70		0	0	0.014410	0	0
ZNF582	147948	broad.mit.edu	37	19	56896237	56896237	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:56896237C>T	uc002qmy.3	-	4	935	c.642G>A	c.(640-642)aaG>aaA	p.K214K	ZNF582_uc002qmz.1_Silent_p.K183K	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	Homo sapiens zinc finger protein 582 (ZNF582), mRNA.	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R213Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TAAGGAGTTCCTTTTGCCAGA	0.338000														29			24		0	0	0.014323	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26877903	26877903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:26877903G>A	uc001bmr.1	+	4	486	c.323G>A	c.(322-324)cGg>cAg	p.R108Q	RPS6KA1_uc010ofe.1_Missense_Mutation_p.R16Q|RPS6KA1_uc010off.1_Missense_Mutation_p.R92Q|RPS6KA1_uc001bms.1_Missense_Mutation_p.R117Q|RPS6KA1_uc009vsl.1_5'UTR	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	108	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GACCGCGTCCGGACCAAGATG	0.552000														7			35		0	0	0.004289	0	0
CPA6	57094	broad.mit.edu	37	8	68658271	68658271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:68658271G>A	uc003xxq.4	-	0	350	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F	CPA6_uc003xxr.4_5'UTR|CPA6_uc003xxs.2_Missense_Mutation_p.L32F	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	32					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TTGTTATAAAGGTGGCTGTGC	0.532000														21			19		0	0	0.012319	0	0
ACSF3	197322	broad.mit.edu	37	16	89199645	89199645	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:89199645C>T	uc010cig.2	+	6	1549	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	ACSF3_uc010cih.2_Silent_p.F182F|ACSF3_uc002fmp.3_Silent_p.F447F|ACSF3_uc021tmq.1_Silent_p.F447F|ACSF3_uc010cii.2_Non-coding_Transcript	NM_001127214	NP_777577	Q4G176	ACSF3_HUMAN	Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	447					fatty acid metabolic process	mitochondrion	ATP binding|acid-thiol ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		AGAGTGCATTCACCCTGGATG	0.557000														27			24		0	0	0.014323	0	0
NBPF10	100132406	broad.mit.edu	37	1	144619399	144619399	+	Silent	SNP	G	A	A	rs4067645	by1000genomes	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:144619399G>A	uc009wig.1	+	5	734	c.540G>A	c.(538-540)gtG>gtA	p.V180V	NBPF10_uc010oxo.1_Silent_p.V182V|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Silent_p.V113V|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	182								p.A179D(2)		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)		ATGAGAAAGTGCAGAAATCAT	0.413000														247			6		0	0	0.001168	0	0
DBX2	440097	broad.mit.edu	37	12	45410267	45410267	+	Silent	SNP	A	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:45410267A>T	uc001rok.1	-	3	994	c.822T>A	c.(820-822)tcT>tcA	p.S274S		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	274						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AAGGACATGGAGAAGGGAAAC	0.493000														57			41		0	0	0.009718	0	0
abParts	0	broad.mit.edu	37	14	107083659	107083659	+	RNA	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:107083659G>A	uc021ser.1	-	129		c.5592C>T								Parts of antibodies, mostly variable regions.																		CTGCCACCAGGAGAAGGAAGA	0.502000														33			13		0	0	0.001855	0	0
CELA3B	23436	broad.mit.edu	37	1	22333991	22333991	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:22333991A>G	uc001bfl.3	+	5	644	c.625A>G	c.(625-627)Atc>Gtc	p.I209V		NM_005747	NP_005738	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3A (CELA3A), mRNA.	209	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TGGAGGGTACATCCGCTCCGG	0.617000														74			4		0	0	0.003080	0	0
KBTBD8	84541	broad.mit.edu	37	3	67058398	67058398	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:67058398C>T	uc003dmy.3	+	3	1448	c.1395C>T	c.(1393-1395)acC>acT	p.T465T	KBTBD8_uc011bfv.2_Silent_p.T23T	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	465										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GTTTCTTAACCCCCATGACTG	0.363000														46			33		0	0	0.006230	0	0
PLCB1	23236	broad.mit.edu	37	20	8678363	8678363	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:8678363G>A	uc002wnb.3	+	10	1103	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E	PLCB1_uc010zrb.1_Missense_Mutation_p.G266E|PLCB1_uc002wna.3_Missense_Mutation_p.G367E|PLCB1_uc002wnc.1_Missense_Mutation_p.G266E	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	367	PI-PLC X-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGCTGGAAGGGACGGACTGCA	0.488000														47			55		0	0	0.014410	0	0
CUX2	23316	broad.mit.edu	37	12	111745042	111745042	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:111745042G>A	uc001tsa.2	+	11	1244	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	364						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGACTATGAGGAAATTAAAAC	0.552000														32			24		0	0	0.006320	0	0
NLK	51701	broad.mit.edu	37	17	26519196	26519196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:26519196C>T	uc010crj.3	+	9	1698	c.1486C>T	c.(1486-1488)Ctc>Ttc	p.L496F		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	496					Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CAGAGTGCCTCTCTGCATCAA	0.373000														9			8		0	0	0.006214	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492579	21492579	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:21492579G>A	uc002wsi.3	-	1	1161	c.804C>T	c.(802-804)gcC>gcT	p.A268A		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	268					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCCACTGCTGGGCCTGGACCA	0.711000														60			39		0	0	0.014410	0	0
MEP1A	4224	broad.mit.edu	37	6	46766888	46766888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:46766888C>T	uc011dwh.1	+	3	324	c.316C>T	c.(316-318)Ccc>Tcc	p.P106S	MEP1A_uc010jzh.1_Missense_Mutation_p.P78S|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_5'UTR	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	78	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GTGGACGTTCCCCATTCCTTA	0.443000														28			18		0	0	0.008871	0	0
THOC7	80145	broad.mit.edu	37	3	63823682	63823682	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:63823682G>A	uc003dlt.4	-	3	453	c.322C>T	c.(322-324)Caa>Taa	p.Q108*	C3orf49_uc003dls.4_Intron|THOC7_uc003dlu.4_Nonsense_Mutation_p.Q45*	NM_025075	NP_079351	Q6I9Y2	THOC7_HUMAN	Homo sapiens THO complex 7 homolog (Drosophila) (THOC7), mRNA.	108	Interaction with NIF3L1.|Interaction with THOC5.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex|cytoplasm	RNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		CGTTTTGCTTGAAGAATTTGC	0.318000														38			22		0	0	0.003954	0	0
C2orf78	388960	broad.mit.edu	37	2	74041328	74041328	+	Silent	SNP	A	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:74041328A>G	uc002sjr.1	+	1	943	c.822A>G	c.(820-822)caA>caG	p.Q274Q		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	274								p.Q274E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGTCTTCTCAACCCATCACAG	0.463000														63			43		0	0	0.014410	0	0
ZC3H3	23144	broad.mit.edu	37	8	144620785	144620785	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:144620785G>A	uc003yyd.2	-	1	781	c.752C>T	c.(751-753)tCc>tTc	p.S251F		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	251					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCTGGCCACGGAATGAGAACC	0.642000														38			20		0	0	0.007413	0	0
CALCRL	10203	broad.mit.edu	37	2	188211048	188211048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:188211048G>A	uc010frt.3	-	13	1632	c.1249C>T	c.(1249-1251)Cgt>Tgt	p.R417C	CALCRL_uc002upv.4_Missense_Mutation_p.R417C	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	417						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)			GACGCACTACGAAGAGCTTCT	0.378000														21			12		0	0	0.013537	0	0
OR9K2	441639	broad.mit.edu	37	12	55524300	55524300	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:55524300G>A	uc010spe.2	+	0	748	c.748G>A	c.(748-750)Gtt>Att	p.V250I		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGTGTCCACAGTTCTAAAGAT	0.368000														48			25		0	0	0.005443	0	0
CSMD3	114788	broad.mit.edu	37	8	113303898	113303898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:113303898G>A	uc003ynu.3	-	55	8974	c.8815C>T	c.(8815-8817)Cca>Tca	p.P2939S	CSMD3_uc003yns.3_Missense_Mutation_p.P2141S|CSMD3_uc003ynt.3_Missense_Mutation_p.P2899S|CSMD3_uc011lhx.2_Missense_Mutation_p.P2770S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2939	Sushi 20.					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						GAATTGGCTGGAATTCCAGGA	0.294000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				40			25		0	0	0.006320	0	0
C14orf166B	145497	broad.mit.edu	37	14	77294698	77294698	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:77294698C>T	uc001xsx.2	+	1	267	c.153C>T	c.(151-153)tcC>tcT	p.S51S	C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010aso.1_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript|C14orf166B_uc010tvh.1_5'Flank	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	51										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AGGCCGAATCCCCGCCGACTG	0.502000														29			29		0	0	0.008361	0	0
ZNF493	284443	broad.mit.edu	37	19	21607153	21607153	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:21607153G>T	uc002npw.3	+	3	1811	c.1692G>T	c.(1690-1692)aaG>aaT	p.K564N	ZNF493_uc002npx.3_Missense_Mutation_p.K436N|ZNF493_uc002npy.3_Missense_Mutation_p.K436N|ZNF493_uc021urq.1_Missense_Mutation_p.K436N	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CTACACATAAGAGAATTCATA	0.353000														7			6		3.59834e-05	3.76892e-05	0.001168	1	0
IGFL3	388555	broad.mit.edu	37	19	46627345	46627345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:46627345G>A	uc002pea.1	-	2	173	c.148C>T	c.(148-150)Cct>Tct	p.P50S		NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN	Homo sapiens IGF-like family member 3 (IGFL3), mRNA.	50						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		TGCTCTGAAGGGTTGTAGATC	0.562000														45			41		0	0	0.006230	0	0
DSP	1832	broad.mit.edu	37	6	7578051	7578051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:7578051G>A	uc003mxp.1	+	20	3196	c.2917G>A	c.(2917-2919)Gaa>Aaa	p.E973K	DSP_uc003mxq.1_Missense_Mutation_p.E973K|DSP_uc021yle.1_Missense_Mutation_p.E973K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	973	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTCAGGACTGGAAACTCTGCT	0.418000														11			108		0	0	0.014410	0	0
C12orf36	283422	broad.mit.edu	37	12	13526349	13526349	+	Missense_Mutation	SNP	G	A	A	rs143075618	byFrequency	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:13526349G>A	uc001rbs.2	-	2	458	c.206C>T	c.(205-207)tCg>tTg	p.S69L						Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA.											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		TCCAGGGAACGATTCCTCATT	0.453000														35			32		0	0	0.010818	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1719012	1719012	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:1719012C>T	uc010uvh.2	+	17	3345	c.3345C>T	c.(3343-3345)gtC>gtT	p.V1115V	CRAMP1L_uc002cmf.3_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	1115	Ser-rich.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GTGAAGGAGTCCCTCTTTCTC	0.592000														11			17		0	0	0.006122	0	0
CHD9	80205	broad.mit.edu	37	16	53279686	53279686	+	Silent	SNP	A	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:53279686A>T	uc002ehb.3	+	13	3542	c.3378A>T	c.(3376-3378)ggA>ggT	p.G1126G	CHD9_uc002egy.3_Silent_p.G1126G|CHD9_uc002ehc.3_Silent_p.G1126G|CHD9_uc002ehf.3_Silent_p.G240G|CHD9_uc002ehg.2_Silent_p.G240G|CHD9_uc002ehd.2_Silent_p.G652G|CHD9_uc002ehe.1_Silent_p.G240G	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1126					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAGGAGCAGGACAAACTAATG	0.323000														18			23		0	0	0.014323	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361039	70361039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:70361039C>T	uc003hek.4	-	0	588	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	UGT2B4_uc011cap.2_Missense_Mutation_p.E45K|UGT2B4_uc003hel.4_Missense_Mutation_p.E181K	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	181					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CTATGCTTTTCAATTGCGTAG	0.443000														20			28		0	0	0.005443	0	0
AOC3	8639	broad.mit.edu	37	17	41004371	41004371	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:41004371C>T	uc002ibv.3	+	0	1171	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	337					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TGTGGACTTTCTCCTTTGGCC	0.577000														26			28		0	0	0.006320	0	0
DUOX2	50506	broad.mit.edu	37	15	45386440	45386440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:45386440G>A	uc001zun.3	-	33	4758	c.4555C>T	c.(4555-4557)Cct>Tct	p.P1519S	DUOX2_uc010bea.3_Missense_Mutation_p.P1519S	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1519					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ATTCCTGGAGGGCCGCAGCTG	0.567000														34			18		0	0	0.007413	0	0
ZNF831	128611	broad.mit.edu	37	20	57768375	57768375	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:57768375C>T	uc002yan.3	+	0	2301	c.2301C>T	c.(2299-2301)ccC>ccT	p.P767P		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	767						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CACCTGGCCCCCTCAAAGGGG	0.642000														20			11		0	0	0.010729	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565116	58565116	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:58565116C>T	uc002qrc.1	+	5	1171	c.924C>T	c.(922-924)atC>atT	p.I308I		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	308					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCACTTCATCGAGCACCAGA	0.632000														35			26		0	0	0.006320	0	0
NAALAD2	10003	broad.mit.edu	37	11	89892443	89892443	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:89892443G>A	uc001pdf.4	+	7	1036	c.927G>A	c.(925-927)tgG>tgA	p.W309*	NAALAD2_uc009yvx.3_Intron|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pdd.2_3'UTR|NAALAD2_uc001pde.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	309	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATAAGAGTTGGAAGGGAGCCC	0.363000														28			19		0	0	0.014323	0	0
STAB1	23166	broad.mit.edu	37	3	52556346	52556346	+	Splice_Site	SNP	A	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:52556346A>G	uc003dej.3	+	60	6540	c.6466_splice	c.e60-1	p.N2156_splice	STAB1_uc003dek.1_Splice_Site_p.N171_splice|STAB1_uc003del.3_Splice_Site_p.N43_splice	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2156	EGF-like 16.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCAACCCCAGAACACACGGCG	0.652000														34			23		0	0	0.014323	0	0
TRPM6	140803	broad.mit.edu	37	9	77370359	77370359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:77370359C>T	uc004ajl.1	-	27	5054	c.4816G>A	c.(4816-4818)Gac>Aac	p.D1606N	TRPM6_uc004ajk.1_Missense_Mutation_p.D1601N|TRPM6_uc022bib.1_Missense_Mutation_p.D1601N|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.D557N|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.D562N	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1606					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTCAACTGGTCACTCTGAGAG	0.428000														35			24		0	0	0.002780	0	0
TBC1D3	729873	broad.mit.edu	37	17	36288236	36288236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:36288236G>A	uc010wdk.1	+	4	506	c.505G>A	c.(505-507)Ggc>Agc	p.G169S	TBC1D3_uc002hoo.2_Missense_Mutation_p.G108S|TBC1D3_uc002hop.2_Non-coding_Transcript|TBC1D3_uc010wdj.1_Missense_Mutation_p.G28S|TBC1D3_uc010cvf.1_Missense_Mutation_p.G108S|TBC1D3_uc002hoq.2_Missense_Mutation_p.G108S|DQ586040_uc002hpl.3_5'Flank|DQ587906_uc002hor.3_5'Flank|DQ585853_uc021tvy.1_5'Flank	NM_032258	NP_115634	Q8IZP1	TBC3A_HUMAN	Homo sapiens TBC1 domain family, member 3F (TBC1D3F), mRNA.	108	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAACATCCGGGGCCCGATGTG	0.557000														674			69		0	0	0.014410	0	0
C3orf39	84892	broad.mit.edu	37	3	43122023	43122023	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:43122023G>A	uc003cmr.1	-	1	1244	c.901C>T	c.(901-903)Ctg>Ttg	p.L301L	C3orf39_uc003cmq.1_Silent_p.L301L|C3orf39_uc021wwn.1_Silent_p.L301L	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	Homo sapiens chromosome 3 open reading frame 39 (C3orf39), mRNA.	301						extracellular region	transferase activity, transferring glycosyl groups			cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		GCCTCATTCAGAATGAGTCTG	0.552000														22			25		0	0	0.003330	0	0
KRT84	3890	broad.mit.edu	37	12	52777539	52777539	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:52777539C>T	uc001sah.1	-	1	638	c.590G>A	c.(589-591)tGg>tAg	p.W197*		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	197	Coil 1A.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGGAAGCTCCACTTGGTCTC	0.507000														32			30		0	0	0.012213	0	0
PHACTR1	221692	broad.mit.edu	37	6	12718995	12718995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:12718995G>A	uc003nah.2	+	2	392	c.19G>A	c.(19-21)Gat>Aat	p.D7N	PHACTR1_uc011dir.2_Missense_Mutation_p.D7N|PHACTR1_uc010jpc.3_Missense_Mutation_p.D7N|PHACTR1_uc003nag.2_Missense_Mutation_p.D7N|PHACTR1_uc003nai.3_Missense_Mutation_p.D7N	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	7						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCCAAAATGGATTATTTTCT	0.353000														30			215		0	0	0.014410	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69015058	69015058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:69015058C>T	uc010fdg.3	+	3	855	c.436C>T	c.(436-438)Ctc>Ttc	p.L146F	ARHGAP25_uc010yqk.2_Missense_Mutation_p.L120F|ARHGAP25_uc010yql.2_Intron|ARHGAP25_uc002sev.3_Missense_Mutation_p.L139F|ARHGAP25_uc002sew.3_Missense_Mutation_p.L139F|ARHGAP25_uc002sex.3_Missense_Mutation_p.L139F|ARHGAP25_uc010fdh.1_Non-coding_Transcript	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	146	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GGTTAAATTCCTCAGGAGAGT	0.547000														38			30		0	0	0.006320	0	0
PVRL1	5818	broad.mit.edu	37	11	119549429	119549429	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:119549429G>A	uc001pwv.3	-	1	298	c.126C>T	c.(124-126)ttC>ttT	p.F42F	PVRL1_uc001pwu.1_Silent_p.F42F|PVRL1_uc001pww.3_Silent_p.F42F	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.	42	Ig-like V-type.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CTGTGCCGATGAAGCCATACA	0.607000														5			8		0	0	0.003080	0	0
MC3R	4159	broad.mit.edu	37	20	54824280	54824281	+	Silent	DNP	CC	TT	TT			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:54824280_54824281CC>TT	uc002xxb.2	+	0	493_494	c.381_382CC>TT	c.(379-384)tccctg>tcTTtg	p.127_128SL>SL		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	164					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)			TCTGCATCTCCCTGGTGGCCTC	0.559000														47			34		0	0	0.004672	0	0
RNLS	55328	broad.mit.edu	37	10	90034757	90034757	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:90034757C>T	uc001kfd.2	-	6	1044	c.909G>A	c.(907-909)gcG>gcA	p.A303A	RNLS_uc010qms.1_Silent_p.A220A	NM_018363	NP_060833	Q5VYX0	RNLS_HUMAN	Homo sapiens renalase, FAD-dependent amine oxidase (RNLS), transcript variant 2, mRNA.	0						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						AGGGGCTCTTCGCACATCCTA	0.448000														31			17		0	0	0.010504	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102760641	102760641	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:102760641C>A	uc011klj.1	-	2	622	c.543G>T	c.(541-543)aaG>aaT	p.K181N	NAPEPLD_uc003vbd.2_Missense_Mutation_p.K108N|NAPEPLD_uc003vbc.2_Missense_Mutation_p.K108N|NAPEPLD_uc003vbe.2_Non-coding_Transcript	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	Homo sapiens N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD), transcript variant 2, mRNA.	108					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TAAAATATGGCTTAAGCACTG	0.403000														67			33		3.03874e-20	3.24668e-20	0.003271	1	0
OR10A6	390093	broad.mit.edu	37	11	7950066	7950066	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:7950066G>A	uc010rbh.2	-	0	144	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	48					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)		CTAGGGAGACGATGACTATAA	0.468000														45			43		0	0	0.009718	0	0
DHTKD1	55526	broad.mit.edu	37	10	12143169	12143169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:12143169G>A	uc001ild.4	+	9	1984	c.1885G>A	c.(1885-1887)Ggg>Agg	p.G629R		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	629					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AAATCAGAAGGGGTTTCTAGA	0.473000														149			83		0	0	0.014410	0	0
SYT16	83851	broad.mit.edu	37	14	62551057	62551057	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:62551057G>A	uc001xfu.1	+	4	1775	c.1578G>A	c.(1576-1578)atG>atA	p.M526I	SYT16_uc010tse.1_Missense_Mutation_p.M84I	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	526	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CTGTGGAAATGATCAAAGGCA	0.537000														22			22		0	0	0.010504	0	0
OR8B4	283162	broad.mit.edu	37	11	124293858	124293858	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:124293858G>A	uc010sak.2	-	0	910	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L304M(2)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACTCTCTTCAGGGTTTTGCCC	0.433000														13			14		0	0	0.002450	0	0
MLL3	58508	broad.mit.edu	37	7	151851222	151851222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:151851222G>A	uc003wla.3	-	47	12368	c.12149C>T	c.(12148-12150)tCa>tTa	p.S4050L	MLL3_uc003wkz.3_Missense_Mutation_p.S3168L|MLL3_uc003wkx.3_Missense_Mutation_p.S208L|MLL3_uc003wky.3_Missense_Mutation_p.S1614L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4050					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.S4050*(2)|p.S4050S(1)|p.S4107*(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATTCCTTCTTGATTCTGAACC	0.348000			N		medulloblastoma									18			14		0	0	0.002450	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6422940	6422940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:6422940C>T	uc001qnr.3	+	2	432	c.284C>T	c.(283-285)cCc>cTc	p.P95L	PLEKHG6_uc001qns.3_Missense_Mutation_p.P95L|PLEKHG6_uc010sew.2_Missense_Mutation_p.P95L|PLEKHG6_uc010sex.2_Missense_Mutation_p.P63L	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	95					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CTTCACTCCCCCAAACTCAAG	0.637000														33			32		0	0	0.013726	0	0
NR1I3	9970	broad.mit.edu	37	1	161200676	161200676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:161200676C>T	uc001fzx.3	-	7	1059	c.856G>A	c.(856-858)Gat>Aat	p.D286N	TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Missense_Mutation_p.D287N|NR1I3_uc001fzm.3_Missense_Mutation_p.D207N|NR1I3_uc001fzn.3_Missense_Mutation_p.D76N|NR1I3_uc001fzf.3_Missense_Mutation_p.D287N|NR1I3_uc009wug.3_Missense_Mutation_p.D120N|NR1I3_uc001fzo.3_Missense_Mutation_p.D115N|NR1I3_uc001fzt.3_Missense_Mutation_p.D76N|NR1I3_uc001fzs.3_Missense_Mutation_p.D76N|NR1I3_uc001fzr.3_Silent_p.L139L|NR1I3_uc001fzq.3_Silent_p.L139L|NR1I3_uc001fzv.3_Silent_p.L110L|NR1I3_uc001fzu.3_Silent_p.L110L|NR1I3_uc001fzy.3_Missense_Mutation_p.D282N|NR1I3_uc001fzw.3_Missense_Mutation_p.D286N|NR1I3_uc001fzz.3_Missense_Mutation_p.D248N|NR1I3_uc001fzh.3_Missense_Mutation_p.D258N|NR1I3_uc001gab.3_Missense_Mutation_p.D243N|NR1I3_uc001gac.3_Missense_Mutation_p.D262N|NR1I3_uc001fzp.3_Missense_Mutation_p.D291N|NR1I3_uc001fzg.3_Missense_Mutation_p.D258N|NR1I3_uc001gaa.3_Missense_Mutation_p.D243N|NR1I3_uc001fzj.3_Missense_Mutation_p.D253N|NR1I3_uc001fzi.3_Missense_Mutation_p.D253N|NR1I3_uc001fzl.3_Missense_Mutation_p.D214N|NR1I3_uc001fzk.3_Missense_Mutation_p.D214N|NR1I3_uc010pkm.2_Missense_Mutation_p.D253N	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.	286					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)			TGCAGCTGATCAATCTCATCT	0.607000														29			18		0	0	0.010504	0	0
DBR1	51163	broad.mit.edu	37	3	137881090	137881090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:137881090G>A	uc003erv.3	-	7	1430	c.1276C>T	c.(1276-1278)Cca>Tca	p.P426S	DBR1_uc003eru.3_Missense_Mutation_p.P375S|DBR1_uc003ert.3_Missense_Mutation_p.P194S	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	426						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATTTCATCTGGATTAATAGAA	0.383000														289			228		0	0	0.014410	0	0
OR52J3	119679	broad.mit.edu	37	11	5068546	5068546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:5068546G>A	uc010qyv.2	+	0	791	c.791G>A	c.(790-792)cGa>cAa	p.R264Q		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R264L(2)|p.R264*(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTACTCATCGATTTGGACAC	0.443000														56			38		0	0	0.007835	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478346	14478346	+	RNA	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:14478346G>A	uc010xai.2	-	2		c.1218C>T								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		ATGTTGGAAGGAGACATGGAT	0.498000														10			11		0	0	0.008291	0	0
CDH10	1008	broad.mit.edu	37	5	24488047	24488047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:24488047G>A	uc003jgr.2	-	11	2598	c.2092C>T	c.(2092-2094)Cct>Tct	p.P698S	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	698					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTCCTCCGAGGAATAAATAAC	0.502000										HNSCC(23;0.051)				6			30		0	0	0.006320	0	0
SESN1	27244	broad.mit.edu	37	6	109319926	109319926	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:109319926G>A	uc003psu.3	-	4	1194	c.762C>T	c.(760-762)tcC>tcT	p.S254S	SESN1_uc021zdp.1_Silent_p.S129S|SESN1_uc003pst.4_Silent_p.S195S	NM_014454	NP_001186863	Q9Y6P5	SESN1_HUMAN	Homo sapiens sestrin 1 (SESN1), transcript variant 1, mRNA.	195					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		ATTCCGCAAGGGACCAGCTGT	0.388000														37			35		0	0	0.004289	0	0
GPR126	57211	broad.mit.edu	37	6	142737022	142737023	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:142737022_142737023GG>AA	uc010khe.3	+	19	3170_3171	c.2759_2760GG>AA	c.(2758-2760)tgg>tAA	p.W920*	GPR126_uc010khc.3_Nonsense_Mutation_p.W920*|GPR126_uc010khd.3_Nonsense_Mutation_p.W892*|GPR126_uc010khf.3_Nonsense_Mutation_p.W892*	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	920					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CTAGATGGCTGGATCACCTCCT	0.465000														70			42		0	0	0.004672	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415669	210415669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:210415669G>A	uc001hhy.3	+	3	1237	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E	SERTAD4_uc009xcw.3_Missense_Mutation_p.G353E	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	353							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGCAGCAAAGGAAGTAAAATA	0.368000														30			17		0	0	0.010504	0	0
C19orf66	55337	broad.mit.edu	37	19	10200677	10200677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:10200677C>T	uc002mmu.4	+	4	636	c.338C>T	c.(337-339)tCc>tTc	p.S113F	C19orf66_uc002mmv.4_Missense_Mutation_p.S113F|C19orf66_uc002mmw.4_Missense_Mutation_p.S62F	NM_018381	NP_060851	Q9NUL5	CS066_HUMAN	Homo sapiens chromosome 19 open reading frame 66 (C19orf66), mRNA.	113										large_intestine(3)|skin(1)	4						TTTGCCTGCTCCTCCTGCGAC	0.602000														6			11		0	0	0.008291	0	0
NOVA1	4857	broad.mit.edu	37	14	26917170	26917170	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:26917170C>T	uc001wqa.3	-	5	1939	c.1153G>A	c.(1153-1155)Ggt>Agt	p.G385S	NOVA1_uc001wpy.3_Missense_Mutation_p.G507S|NOVA1_uc001wpz.3_Missense_Mutation_p.G483S	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	510	Ala-rich.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GGCACTCAACCCACTTTCTGA	0.428000														32			13		0	0	0.001855	0	0
PHLPP1	23239	broad.mit.edu	37	18	60645673	60645673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:60645673C>T	uc021ule.1	+	16	4408	c.4163C>T	c.(4162-4164)gCc>gTc	p.A1388V		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	1388	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						GCCGTGGAAGCCGTGCGCAAC	0.642000														6			8		0	0	0.010729	0	0
TSPAN8	7103	broad.mit.edu	37	12	71531774	71531774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:71531774C>T	uc009zrt.1	-	4	565	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	TSPAN8_uc001swk.1_Missense_Mutation_p.E135K|TSPAN8_uc001swj.1_Missense_Mutation_p.E135K	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	135					protein glycosylation	integral to membrane|lysosome	signal transducer activity	p.E135K(2)		breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AATTGTTTTTCACTTTCCCCT	0.338000														251			176		0	0	0.014410	0	0
SYPL1	6856	broad.mit.edu	37	7	105732271	105732271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:105732271G>A	uc003vdp.3	-	5	842	c.760C>T	c.(760-762)Cca>Tca	p.P254S	SYPL1_uc003vdo.3_Missense_Mutation_p.P236S	NM_006754	NP_874384	Q16563	SYPL1_HUMAN	Homo sapiens synaptophysin-like 1 (SYPL1), transcript variant 1, mRNA.	254					synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						GTAGGAGGTGGAATACCTCCT	0.403000														28			19		0	0	0.010504	0	0
NEBL	10529	broad.mit.edu	37	10	21185889	21185889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:21185889C>T	uc001iqi.3	-	1	548	c.151G>A	c.(151-153)Gat>Aat	p.D51N	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	51					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						CCACTTACATCGCTAATGAGT	0.373000														67			27		0	0	0.009535	0	0
NLRP13	126204	broad.mit.edu	37	19	56407388	56407388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:56407388C>T	uc010ygg.2	-	10	3080	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	1019							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTATCCAATTCATTGCCTAGA	0.468000														83			61		0	0	0.014410	0	0
ABCG1	9619	broad.mit.edu	37	21	43693414	43693414	+	Splice_Site	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr21:43693414G>A	uc011aev.2	+	4	512	c.438_splice	c.e4-1	p.R146_splice	ABCG1_uc002zam.3_Splice_Site_p.R113_splice|ABCG1_uc002zan.3_Splice_Site_p.R137_splice|ABCG1_uc002zao.3_Splice_Site_p.R132_splice|ABCG1_uc002zap.3_Splice_Site_p.R135_splice|ABCG1_uc002zaq.3_Splice_Site_p.R135_splice|ABCG1_uc002zar.3_Splice_Site_p.R146_splice	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	135	ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GTTCTGCAGGGAGACGGGCAT	0.667000														56			50		0	0	0.014410	0	0
CD1C	911	broad.mit.edu	37	1	158262110	158262110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:158262110C>T	uc001fru.3	+	2	857	c.565C>T	c.(565-567)Ctc>Ttc	p.L189F	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	189					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CCCCCGATTTCTCTTGGGTCT	0.453000														148			136		0	0	0.014410	0	0
C11orf63	79864	broad.mit.edu	37	11	122756873	122756873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:122756873C>T	uc001pym.3	+	1	613	c.316C>T	c.(316-318)Cat>Tat	p.H106Y	C11orf63_uc001pyl.1_Missense_Mutation_p.H106Y	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	106										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCAAAACCACCATACCTGGGA	0.483000														44			23		0	0	0.003330	0	0
ADCY10	55811	broad.mit.edu	37	1	167792263	167792263	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:167792263T>C	uc001ger.3	-	28	4449	c.4151A>G	c.(4150-4152)gAc>gGc	p.D1384G	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.D1231G|ADCY10_uc009wvk.3_Missense_Mutation_p.D1292G	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1384					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAGCAGGATGTCCAAGCAGAC	0.498000														26			27		0	0	0.006320	0	0
FAM49A	81553	broad.mit.edu	37	2	16734264	16734264	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:16734264G>A	uc010exm.2	-	10	1060	c.912C>T	c.(910-912)ttC>ttT	p.F304F	FAM49A_uc002rck.2_Silent_p.F304F	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	304						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GCTTTGTAGTGAACCTGGATG	0.448000														28			16		0	0	0.008871	0	0
ZNF782	158431	broad.mit.edu	37	9	99581952	99581952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:99581952G>A	uc004awp.1	-	5	634	c.353C>T	c.(352-354)tCa>tTa	p.S118L	ZNF782_uc011lup.1_5'UTR	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I117L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGGTTTTCCTGAAATTTCTTG	0.403000														28			16		0	0	0.004007	0	0
KDM5A	5927	broad.mit.edu	37	12	416839	416839	+	Silent	SNP	G	A	A	rs61750262		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:416839G>A	uc001qif.1	-	22	4074	c.3711C>T	c.(3709-3711)ccC>ccT	p.P1237P		NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1237					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	p.P1237L(1)		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						GCAACCGTACGGGCAACTTCT	0.507000			T	NUP98	AML									33			31		0	0	0.013726	0	0
HAPLN3	145864	broad.mit.edu	37	15	89422255	89422255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:89422255G>A	uc002bnd.3	-	4	1006	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S	HAPLN3_uc002bnc.3_Missense_Mutation_p.P247S|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	247	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					CGGTGGCGGGGGCCGTAGCTT	0.682000											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			10		0	0	0.010729	0	0
OPN1MW	2652	broad.mit.edu	37	X	153496229	153496229	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:153496229C>T	uc004fkd.3	+	4	1039	c.957C>T	c.(955-957)ccC>ccT	p.P319P		NM_000513	NP_001041646	P04001	OPSG_HUMAN	Homo sapiens opsin 1 (cone pigments), medium-wave-sensitive (OPN1MW), mRNA.	319					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|lung(1)	2	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTACAACCCCGTTATCTATG	0.547000														83			49		0	0	0.014410	0	0
SNAP91	9892	broad.mit.edu	37	6	84303343	84303343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:84303343G>A	uc021zcf.1	-	16	1580	c.1550C>T	c.(1549-1551)cCa>cTa	p.P517L	SNAP91_uc011dzd.2_Missense_Mutation_p.P20L|SNAP91_uc003pka.3_Missense_Mutation_p.P515L|SNAP91_uc011dze.2_Missense_Mutation_p.P515L|SNAP91_uc003pkc.3_Missense_Mutation_p.P515L|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.P480L	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	517	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)		TGCGGGAACTGGAGGGGCTGT	0.607000														13			10		0	0	0.010729	0	0
COL21A1	81578	broad.mit.edu	37	6	55990415	55990415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:55990415C>T	uc003pcs.3	-	13	1832	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	COL21A1_uc010jzz.3_5'Flank|COL21A1_uc011dxg.2_5'Flank|COL21A1_uc011dxh.2_5'Flank|COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.E534K|COL21A1_uc003pcu.1_Missense_Mutation_p.E531K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	534					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCACCCATTTCACCCTAAAAG	0.274000														6			6		0	0	0.001984	0	0
GPR158	57512	broad.mit.edu	37	10	25887846	25887846	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:25887846G>A	uc001isj.3	+	10	3351	c.3291G>A	c.(3289-3291)gaG>gaA	p.E1097E	GPR158_uc001isk.3_Silent_p.E472E	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1097						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTCTCCCAGAGAGGGCAAAAG	0.512000														55			45		0	0	0.011902	0	0
CT47A6	728062	broad.mit.edu	37	X	120094513	120094513	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:120094513C>T	uc004eth.3	-	0	825	c.570G>A	c.(568-570)caG>caA	p.Q190Q	CT47A6_uc004eti.3_Intron	NM_001080141	NP_775842	Q5JQC4	CT47A_HUMAN	Homo sapiens cancer/testis antigen family 47, member A6 (CT47A6), mRNA.	190										large_intestine(1)|lung(4)	5						ATGCGGCCTCCTGGATCAGGC	0.736000														6			48		0	0	0.014410	0	0
C20orf20	55257	broad.mit.edu	37	20	61429957	61429957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:61429957C>T	uc002ydi.3	+	2	360	c.289C>T	c.(289-291)Cca>Tca	p.P97S		NM_018270	NP_060740	Q9NV56	MRGBP_HUMAN	Homo sapiens chromosome 20 open reading frame 20 (C20orf20), mRNA.	97					chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	H4/H2A histone acetyltransferase complex				endometrium(1)|lung(5)|skin(2)|urinary_tract(3)	11	Breast(26;3.65e-08)					TGAGATTCTTCCATTCCCGAA	0.458000														86			47		0	0	0.014410	0	0
ACVR1B	91	broad.mit.edu	37	12	52370179	52370179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:52370179C>T	uc010snn.2	+	2	477	c.400C>T	c.(400-402)Ccg>Tcg	p.P134S	ACVR1B_uc001rzl.3_Missense_Mutation_p.P134S|ACVR1B_uc001rzm.3_Missense_Mutation_p.P134S|ACVR1B_uc001rzn.3_Missense_Mutation_p.P134S|ACVR1B_uc021qya.1_Missense_Mutation_p.P82S	NM_020328	NP_064733	P36896	ACV1B_HUMAN	Homo sapiens activin A receptor, type IB (ACVR1B), transcript variant 3, mRNA.	134					G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	ATP binding|SMAD binding|activin receptor activity, type I|metal ion binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CATCGCCGGCCCGGTGTTCCT	0.537000														51			31		0	0	0.009535	0	0
PIF1	80119	broad.mit.edu	37	15	65116064	65116064	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:65116064C>T	uc002ant.2	-	1	537	c.471G>A	c.(469-471)gaG>gaA	p.E157E	PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Silent_p.E157E|PIF1_uc002anu.3_Silent_p.E157E	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	157					negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						TGAGCCGCCGCTCCTCGGGCT	0.756000														20			11		0	0	0.010729	0	0
TLR4	7099	broad.mit.edu	37	9	120475290	120475290	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:120475290A>G	uc004bjz.3	+	2	1175	c.884A>G	c.(883-885)tAc>tGc	p.Y295C	TLR4_uc004bkb.3_Missense_Mutation_p.Y95C|TLR4_uc004bka.3_Missense_Mutation_p.Y255C	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	295					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TACTTAGACTACTACCTCGAT	0.338000														36			36		0	0	0.005524	0	0
DNAH7	56171	broad.mit.edu	37	2	196738410	196738410	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:196738410G>A	uc002utj.4	-	38	6396	c.6295C>T	c.(6295-6297)Cga>Tga	p.R2099*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2099	AAA 3 (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						ACTGGATTTCGACCACCACCT	0.274000														11			16		0	0	0.004990	0	0
TMEM182	130827	broad.mit.edu	37	2	103378691	103378691	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:103378691C>T	uc010fjb.3	+	0	202	c.15C>T	c.(13-15)atC>atT	p.I5I	TMEM182_uc002tcc.4_Intron|TMEM182_uc002tcd.4_Intron	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	Homo sapiens transmembrane protein 182 (TMEM182), mRNA.	5						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						GACTAAATATCGCTATCTTCT	0.358000														8			11		0	0	0.008291	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30683443	30683443	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:30683443G>A	uc003ahi.3	-	7	927	c.810C>T	c.(808-810)atC>atT	p.I270I	TBC1D10A_uc003ahd.3_Silent_p.I97I|TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Non-coding_Transcript|TBC1D10A_uc003ahh.3_Non-coding_Transcript|TBC1D10A_uc010gvq.3_Non-coding_Transcript|TBC1D10A_uc010gvr.3_5'UTR|TBC1D10A_uc010gvs.2_5'UTR	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 2, mRNA.	0	Rab-GAP TBC.					intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CCGAACGGGCGATCTTGGTGA	0.612000											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			27		0	0	0.009535	0	0
ASAP2	8853	broad.mit.edu	37	2	9528618	9528618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:9528618C>T	uc002qzh.2	+	21	2666	c.2326C>T	c.(2326-2328)Cct>Tct	p.P776S	ASAP2_uc002qzi.2_Missense_Mutation_p.P776S	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	776	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TCCCGCCCAGCCTGCAGCCCC	0.587000														20			16		0	0	0.004990	0	0
GPR128	84873	broad.mit.edu	37	3	100368614	100368614	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:100368614G>T	uc003duc.3	+	10	1610	c.1342G>T	c.(1342-1344)Ggt>Tgt	p.G448C	GPR128_uc011bhc.2_Missense_Mutation_p.G149C	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	448					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GTCTGTTACTGGTCTGGCTCT	0.368000														62			4		1.23904e-05	1.3001e-05	0.000602	1	0
ADD3	120	broad.mit.edu	37	10	111890164	111890164	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:111890164C>T	uc001kyu.3	+	12	1808	c.1652C>T	c.(1651-1653)cCt>cTt	p.P551L	ADD3_uc001kyt.4_Missense_Mutation_p.P551L|ADD3_uc001kys.4_Missense_Mutation_p.P551L|ADD3_uc001kyv.3_Missense_Mutation_p.P551L|ADD3_uc001kyw.3_Missense_Mutation_p.P551L|ADD3_uc001kyx.3_Missense_Mutation_p.P124L	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA.	551						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		CCAGCTCCTCCTAACCCATTT	0.348000														48			27		0	0	0.008361	0	0
ACVR1C	130399	broad.mit.edu	37	2	158399337	158399337	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:158399337C>T	uc002tzk.4	-	5	1224	c.981G>A	c.(979-981)aaG>aaA	p.K327K	ACVR1C_uc002tzl.4_Silent_p.K247K|ACVR1C_uc010fof.3_Silent_p.K170K|ACVR1C_uc010foe.3_Silent_p.K277K	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	327	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CTAAGATATTCTTTGATTTTA	0.368000														52			34		0	0	0.003271	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058877	152058877	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:152058877C>T	uc001ezo.1	-	2	1346	c.1281G>A	c.(1279-1281)caG>caA	p.Q427Q		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	427							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTTGGAGTTCCTGATACTTCC	0.468000														79			59		0	0	0.014410	0	0
SLC14A1	6563	broad.mit.edu	37	18	43311018	43311018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:43311018C>T	uc010dnk.3	+	4	580	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	SLC14A1_uc002lbi.4_Intron|SLC14A1_uc010xcn.2_Missense_Mutation_p.R64W|SLC14A1_uc002lbf.4_Missense_Mutation_p.R64W|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_5'UTR|SLC14A1_uc002lbh.4_Intron|SLC14A1_uc002lbj.4_Missense_Mutation_p.R120W|SLC14A1_uc002lbk.4_Missense_Mutation_p.R64W|SLC14A1_uc021ujg.1_Missense_Mutation_p.R64W	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	64						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CTGGATTCTCCGGGGCATATC	0.527000														57			41		0	0	0.013114	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227192753	227192753	+	Silent	SNP	G	A	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:227192753G>A	uc001hqr.3	-	33	5755	c.4812C>T	c.(4810-4812)atC>atT	p.I1604I	CDC42BPA_uc001hqq.3_Silent_p.I903I|CDC42BPA_uc001hqs.3_Silent_p.I1523I|CDC42BPA_uc009xes.3_Silent_p.I1576I|CDC42BPA_uc010pvs.2_Silent_p.I1584I|CDC42BPA_uc001hqp.3_Silent_p.I822I|CDC42BPA_uc001hqt.2_Silent_p.I482I	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	1617					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GGGATTTGGTGATAGATGGAA	0.532000														44			30		0	0	0.007291	0	0
C20orf152	140894	broad.mit.edu	37	20	34571961	34571961	+	Silent	SNP	C	T	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:34571961C>T	uc002xer.1	+	4	621	c.465C>T	c.(463-465)ttC>ttT	p.F155F	C20orf152_uc002xes.1_Silent_p.F155F|C20orf152_uc010gfp.1_Intron	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	155										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					GCTTTTATTTCATCTACCTGG	0.522000														35			35		0	0	0.012213	0	0
PGR	5241	broad.mit.edu	37	11	100962567	100962567	+	Silent	SNP	G	A	A	rs11571179		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:100962567G>A	uc001pgh.2	-	2	2573	c.1830C>T	c.(1828-1830)atC>atT	p.I610I	PGR_uc001pgi.2_Silent_p.I610I|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Intron	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	610					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TTTTATCAACGATGCAGTCAT	0.378000														9			9		0	0	0.008291	0	0
MIR663B	100313824	broad.mit.edu	37	2	133014651	133014652	+	Splice_Site	INS	-	C	C	rs150907057		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:133014651_133014652insC	uc021vpu.1	-	1		c.1_splice	c.e1-1		ANKRD30BL_uc002ttj.3_Intron					Homo sapiens microRNA 663b (MIR663B), microRNA.																		GGCCCTCGGCACCACCGAGACC	0.678													---	6	---	---	3	---					
MORC1	27136	broad.mit.edu	37	3	108682332	108682333	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:108682332_108682333delTT	uc003dxl.3	-	26	2814_2815	c.2727_2728delAA	c.(2725-2730)aaaagafs	p.K909fs	MORC1_uc011bhn.2_Frame_Shift_Del_p.K888fs	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	909					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GAGATTTTTCTTTTATTTTCAC	0.322													---	40	---	---	36	---					
EIF4A2	1974	broad.mit.edu	37	3	186504015	186504015	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:186504015delA	uc003fqs.3	+	5	619	c.580delA	c.(580-582)aagfs	p.K194fs	EIF4A2_uc003fqu.3_Frame_Shift_Del_p.K195fs|EIF4A2_uc003fqv.3_Frame_Shift_Del_p.K99fs|EIF4A2_uc003fqw.3_Frame_Shift_Del_p.K99fs|EIF4A2_uc011bsb.2_Frame_Shift_Del_p.K67fs|SNORA81_uc010hyv.2_5'Flank|SNORA63_uc010hyw.1_5'Flank|EIF4A2_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A2 (EIF4A2), mRNA.	194	Helicase ATP-binding.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		CCGTGGTTTTAAGGATCAAAT	0.353			T	BCL6	NHL								---	25	---	---	11	---					
KIT	3815	broad.mit.edu	37	4	55599319	55599321	+	In_Frame_Del	DEL	AGA	-	-	rs121913506		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:55599319_55599321delAGA	uc010igr.3	+	16	2532_2534	c.2445_2447delAGA	c.(2443-2448)agagac>agc	p.815_816RD>S	KIT_uc010igs.3_In_Frame_Del_p.811_812RD>S	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	815	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.D816V(1920)|p.D816?(188)|p.D816Y(111)|p.D816H(103)|p.D816F(12)|p.D816E(5)|p.D816I(5)|p.D816N(4)|p.D816G(4)|p.D816A(3)|p.D816>VVA(2)|p.A814S(2)|p.R815_D816insVI(2)|p.L813_A814insSLL(1)|p.A814T(1)|p.D816>GP(1)|p.A814A(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCTAGCCAGAGACATCAAGAAT	0.394		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				---	129	---	---	8	---					
SPEF2	79925	broad.mit.edu	37	5	35753811	35753811	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:35753811delG	uc003jjo.3	+	23	3527	c.3416delG	c.(3415-3417)tggfs	p.W1139fs	SPEF2_uc003jjp.1_Frame_Shift_Del_p.W625fs	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1139					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATGAGAGCTGGTTACAGGAC	0.507													---	32	---	---	50	---					
EPS15L1	58513	broad.mit.edu	37	19	16553011	16553011	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:16553011delA	uc002ndx.3	-	1	59	c.53delT	c.(52-54)ttgfs	p.L18fs	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc002ndz.1_Frame_Shift_Del_p.L18fs|EPS15L1_uc010xpf.1_5'UTR|EPS15L1_uc002nea.1_Frame_Shift_Del_p.L18fs|EPS15L1_uc010eah.1_Frame_Shift_Del_p.L18fs|EPS15L1_uc002nec.1_Frame_Shift_Del_p.L18fs	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	18	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AGATTCATACAACGAATTTCC	0.428													---	22	---	---	12	---					
