Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OR8D2	283160	broad.mit.edu	37	11	124189926	124189926	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:124189926G>A	ENST00000357438.2	-	1	258	c.168C>T	c.(166-168)taC>taT	p.Y56Y		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		ACACTGGAGGGTAAAGTTGAG	0.438000													11	22					0	0	0.008291	0	0
ABCA12	26154	broad.mit.edu	37	2	215884434	215884434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:215884434C>T	ENST00000272895.7	-	12	1593	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	ABCA12_ENST00000389661.4_Missense_Mutation_p.M140I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	458					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCCCAAAGCTCATATCAGAGA	0.463000													9	17					0	0	0.004482	0	0
OR6B1	135946	broad.mit.edu	37	7	143701745	143701745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:143701745G>A	ENST00000408922.2	+	1	724	c.656G>A	c.(655-657)gGa>gAa	p.G219E		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CTGTCCTACGGATGCATTCTG	0.473000													33	74					0	0	0.002445	0	0
IGHV4-39	28394	broad.mit.edu	37	14	106877922	106877922	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:106877922G>A	ENST00000390619.2	-	0	121																											GCTGGGACAGGACCCCTGTGA	0.592000													14	25					0	0	0.004007	0	0
MUC16	94025	broad.mit.edu	37	19	9012794	9012794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9012794C>T	ENST00000397910.4	-	34	38853	c.38650G>A	c.(38650-38652)Gag>Aag	p.E12884K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12886	SEA 6.			Missing (in Ref. 3; AAK74120).	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						AGGACCCGCTCCGTGGTGTTG	0.587000													26	68					0	0	0.004656	0	0
IARS2	55699	broad.mit.edu	37	1	220284190	220284190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:220284190C>T	ENST00000366922.1	+	11	1505	c.1174C>T	c.(1174-1176)Ccg>Tcg	p.P392S	IARS2_ENST00000302637.5_Missense_Mutation_p.P464S			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	464					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GCATAGCTATCCGTATGACTG	0.358000													10	13					0	0	0.006214	0	0
PBRM1	55193	broad.mit.edu	37	3	52649473	52649473	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:52649473C>T	ENST00000356770.4	-	14	1725		c.e14-1		PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000296302.7_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA 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)		CATTATAAACCTACATTCCAA	0.338000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								7	27					0	0	0.001984	0	0
MLXIPL	51085	broad.mit.edu	37	7	73011984	73011984	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:73011984G>A	ENST00000313375.3	-	9	1178	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L	MLXIPL_ENST00000429400.2_Silent_p.L377L|MLXIPL_ENST00000434326.1_Silent_p.L284L|MLXIPL_ENST00000414749.2_Silent_p.L377L|MLXIPL_ENST00000395189.1_Silent_p.L284L|MLXIPL_ENST00000354613.1_Silent_p.L377L	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	377					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTTCAGGAAGGAGGAAATCAG	0.652000													8	18					0	0	0.004482	0	0
ACSL6	23305	broad.mit.edu	37	5	131310625	131310625	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:131310625G>A	ENST00000379264.2	-	11	1137	c.1029C>T	c.(1027-1029)tcC>tcT	p.S343S	ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000379249.3_Intron|ACSL6_ENST00000379272.2_Silent_p.S333S|ACSL6_ENST00000379240.1_Silent_p.S318S|ACSL6_ENST00000379246.1_Silent_p.S329S|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000296869.4_Intron|ACSL6_ENST00000431707.1_Silent_p.S298S|ACSL6_ENST00000543479.1_Intron|ACSL6_ENST00000379244.1_Intron|ACSL6_ENST00000544770.1_Silent_p.S227S	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	318					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGGCAGGAAGGAGATGAGCA	0.517000													4	12					0	0	0.009096	0	0
IL1RL2	8808	broad.mit.edu	37	2	102818036	102818036	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:102818036G>A	ENST00000264257.2	+	5	636	c.510G>A	c.(508-510)ggG>ggA	p.G170G	IL1RL2_ENST00000539491.1_Silent_p.G170G|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Silent_p.G53G	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	170	Ig-like C2-type 2.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AGATTAAAGGGGAGCGGTTCA	0.413000													10	35					0	0	0.008291	0	0
KCNH5	27133	broad.mit.edu	37	14	63316401	63316401	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:63316401C>T	ENST00000322893.7	-	8	1807	c.1539G>A	c.(1537-1539)tgG>tgA	p.W513*	KCNH5_ENST00000394968.1_Nonsense_Mutation_p.W455*|KCNH5_ENST00000420622.2_Nonsense_Mutation_p.W513*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	513					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTGACATGGACCATGTTGAGA	0.368000													10	37					0	0	0.000978	0	0
PRDM9	56979	broad.mit.edu	37	5	23526679	23526679	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:23526679G>A	ENST00000296682.3	+	11	1664	c.1482G>A	c.(1480-1482)atG>atA	p.M494I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	494					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAAGAATAATGGAAGAAGAGT	0.443000										HNSCC(3;0.000094)			11	13					0	0	0.008291	0	0
CCL4L1	9560	broad.mit.edu	37	17	34539888	34539888	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:34539888C>T	ENST00000444414.1	+	3	430	c.196C>T	c.(196-198)Caa>Taa	p.Q66*	CCL4L1_ENST00000589079.1_3'UTR|CCL4L1_ENST00000358756.5_Intron|CCL4L1_ENST00000586598.1_3'UTR|CCL4L1_ENST00000400702.4_3'UTR|CCL4L1_ENST00000588929.1_Intron|CCL4L1_ENST00000378352.4_Intron|CCL4L1_ENST00000389068.5_Intron|CCL4L1_ENST00000591167.1_3'UTR|CCL4L1_ENST00000589336.1_3'UTR|CCL4L1_ENST00000378350.4_3'UTR|CCL4L1_ENST00000591637.1_3'UTR					chemokine (C-C motif) ligand 4-like 1														Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTACGGATTCCAAACCAAAAG	0.522000													16	17					0	0	0.006122	0	0
AKAP8L	26993	broad.mit.edu	37	19	15511150	15511150	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:15511150C>G	ENST00000397410.4	-	8	1068	c.1004G>C	c.(1003-1005)gGa>gCa	p.G335A	AKAP8L_ENST00000595465.1_Missense_Mutation_p.G274A|AC006128.2_ENST00000599183.1_RNA	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	335						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						ATCCTCTTTTCCCTCCTCATC	0.458000													12	41					0	0	0.003163	0	0
DSP	1832	broad.mit.edu	37	6	7581388	7581388	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:7581388G>A	ENST00000379802.3	+	23	5306	c.4965G>A	c.(4963-4965)agG>agA	p.R1655R	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1655	Central fibrous rod domain.				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)		AAGAGCTGAGGAGGCTCTCTT	0.552000													25	81					0	0	0.003954	0	0
GALNTL5	168391	broad.mit.edu	37	7	151704929	151704929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:151704929G>A	ENST00000392800.2	+	7	1180	c.926G>A	c.(925-927)gGa>gAa	p.G309E	GALNTL5_ENST00000431418.2_Missense_Mutation_p.G309E|GALNTL5_ENST00000483959.1_3'UTR	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	309	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GCAATGTCTGGAGGAATTTTT	0.323000													15	37					0	0	0.004990	0	0
NPAS4	266743	broad.mit.edu	37	11	66191166	66191166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:66191166C>T	ENST00000311034.2	+	6	1102	c.926C>T	c.(925-927)gCc>gTc	p.A309V		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	309	PAC.				transcription, DNA-dependent		DNA binding|signal transducer activity	p.A309G(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCCATTACTGCCAATAACTAC	0.532000													12	42					0	0	0.000978	0	0
B4GALT2	8704	broad.mit.edu	37	1	44447572	44447572	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:44447572C>T	ENST00000356836.6	+	3	1315	c.525C>T	c.(523-525)cgC>cgT	p.R175R	B4GALT2_ENST00000372324.1_Silent_p.R175R|B4GALT2_ENST00000309519.7_Silent_p.R204R|B4GALT2_ENST00000434555.2_Silent_p.R109R	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	175					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	AGCGGCTGCGCTACGGCGTCT	0.607000													7	29					0	0	0.001984	0	0
OR6C75	390323	broad.mit.edu	37	12	55759740	55759740	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:55759740C>T	ENST00000343399.3	+	1	846	c.846C>T	c.(844-846)ctC>ctT	p.L282L		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TGGCTCCTCTCTTGAATCCCT	0.393000													10	34					0	0	0.008291	0	0
CARD6	84674	broad.mit.edu	37	5	40843599	40843599	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:40843599G>A	ENST00000254691.5	+	2	828	c.629G>A	c.(628-630)gGa>gAa	p.G210E	CARD6_ENST00000381677.3_Missense_Mutation_p.G210E	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	210	Asp/Glu-rich.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TTATACTTAGGAAAAGAGGAA	0.398000													9	15					0	0	0.006214	0	0
ITGAE	3682	broad.mit.edu	37	17	3655001	3655001	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:3655001G>A	ENST00000263087.4	-	15	1934	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	612					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACACACTGCCGAAGCTGGCAC	0.612000													18	56					0	0	0.006122	0	0
FAT2	2196	broad.mit.edu	37	5	150922197	150922197	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:150922197G>A	ENST00000261800.5	-	9	8503	c.8491C>T	c.(8491-8493)Cag>Tag	p.Q2831*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2831	Cadherin 25.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			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)			TAGCTCACCTGGCCATCTCTC	0.517000													19	28					0	0	0.001882	0	0
RELN	5649	broad.mit.edu	37	7	103113260	103113260	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:103113260C>T	ENST00000428762.1	-	65	10541	c.10382G>A	c.(10381-10383)tGa>tAa	p.*3461*	RELN_ENST00000343529.5_Silent_p.*3459*|RELN_ENST00000424685.2_Silent_p.*3461*|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	0					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)		TTTGATTCTTCATGGGTATCG	0.363000													7	16					0	0	0.001984	0	0
PRRC2B	84726	broad.mit.edu	37	9	134321958	134321958	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:134321958C>T	ENST00000357304.4	+	6	839	c.784C>T	c.(784-786)Cga>Tga	p.R262*	PRRC2B_ENST00000405995.1_Nonsense_Mutation_p.R262*|PRRC2B_ENST00000458550.1_Nonsense_Mutation_p.R262*	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	262							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TCAGCCTGTCCGAAAAGGGGC	0.537000													9	14					0	0	0.004482	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762527	130762527	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:130762527G>A	ENST00000392429.1	+	2	3338	c.960G>A	c.(958-960)agG>agA	p.R320R	TMEM200A_ENST00000296978.3_Silent_p.R320R|TMEM200A_ENST00000545622.1_Silent_p.R320R	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	320						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTAGGTCAAGGAATTTGTCAA	0.428000													11	46					0	0	0.008291	0	0
PHGDH	26227	broad.mit.edu	37	1	120277300	120277300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:120277300C>T	ENST00000369407.3	+	5	1959	c.452C>T	c.(451-453)tCc>tTc	p.S151F	PHGDH_ENST00000369409.4_Missense_Mutation_p.S185F			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	185					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	GTCTCGGCCTCCTTTGGTGTT	0.507000													381	1097					0	0	0.003610	0	0
GTSE1	51512	broad.mit.edu	37	22	46722511	46722511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:46722511C>T	ENST00000454366.1	+	9	1896	c.1684C>T	c.(1684-1686)Cgg>Tgg	p.R562W		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	543					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TGTGCCAGCTCGGAGACGTTC	0.597000													7	40					0	0	0.001984	0	0
FAM169A	26049	broad.mit.edu	37	5	74130407	74130407	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:74130407C>T	ENST00000389156.4	-	5	424	c.334G>A	c.(334-336)Gag>Aag	p.E112K	FAM169A_ENST00000510496.1_Missense_Mutation_p.E112K|FAM169A_ENST00000380515.3_Intron	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	112										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						ACCACTCTCTCCCCAAGAGTG	0.408000													3	13					0	0	0.009096	0	0
EYA2	2139	broad.mit.edu	37	20	45771711	45771711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:45771711C>T	ENST00000327619.5	+	10	1276	c.902C>T	c.(901-903)tCc>tTc	p.S301F	EYA2_ENST00000357410.3_Missense_Mutation_p.S301F|EYA2_ENST00000317304.6_Intron	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	301					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ACCACGACGTCCGTGCGCATT	0.493000													16	24					0	0	0.004990	0	0
FLG2	388698	broad.mit.edu	37	1	152329303	152329303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:152329303C>T	ENST00000388718.5	-	3	1031	c.959G>A	c.(958-960)gGa>gAa	p.G320E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	320	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCTTAATTCCTGACTGACA	0.483000													28	64					0	0	0.005443	0	0
BTBD7	55727	broad.mit.edu	37	14	93720013	93720013	+	Missense_Mutation	SNP	G	G	A	rs143914698		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:93720013G>A	ENST00000334746.5	-	7	2039	c.1732C>T	c.(1732-1734)Ccc>Tcc	p.P578S	BTBD7_ENST00000393170.2_Missense_Mutation_p.P152S|BTBD7_ENST00000554565.1_Missense_Mutation_p.P227S	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	578										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TCCACATAGGGAGAGAAGAGT	0.398000													9	44					0	0	0.006214	0	0
GLYATL1	92292	broad.mit.edu	37	11	58711032	58711032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:58711032G>A	ENST00000300079.5	+	2	91	c.41G>A	c.(40-42)gGa>gAa	p.G14E	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_5'UTR	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	0						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	tcacaagaaggatctgaagtg	0.438000													7	11					0	0	0.001984	0	0
C11orf73	51501	broad.mit.edu	37	11	86017395	86017395	+	Missense_Mutation	SNP	C	C	T	rs11539213		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:86017395C>T	ENST00000533986.1	+	2	377	c.139C>T	c.(139-141)Cct>Tct	p.P47S	C11orf73_ENST00000278483.3_Missense_Mutation_p.P47S|C11orf73_ENST00000530208.1_3'UTR			Q53FT3	CK073_HUMAN	chromosome 11 open reading frame 73	47			P -> A (in dbSNP:rs11539213).			cytoplasm				kidney(1)|large_intestine(1)|urinary_tract(1)	3		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				AATCCCATTTCCTGAGGGAAT	0.423000													12	31					0	0	0.000978	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058892	152058892	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:152058892C>T	ENST00000368806.1	-	3	1330	c.1266G>A	c.(1264-1266)caG>caA	p.Q422Q		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	422							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)			ACTTCCCATCCTGTGTTTGGG	0.458000													27	45					0	0	0.004656	0	0
PNLDC1	154197	broad.mit.edu	37	6	160239999	160239999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:160239999C>T	ENST00000275275.5	+	17	1417	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S	PNLDC1_ENST00000392167.3_Missense_Mutation_p.P427S	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	416						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCCAGATTATCCCAGTATCCG	0.443000													19	78					0	0	0.010504	0	0
CADM2	253559	broad.mit.edu	37	3	85851313	85851313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:85851313G>A	ENST00000383699.3	+	3	832	c.205G>A	c.(205-207)Gct>Act	p.A69T	CADM2-AS2_ENST00000467225.1_RNA|CADM2_ENST00000405615.2_Missense_Mutation_p.A62T|CADM2_ENST00000407528.2_Missense_Mutation_p.A60T	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	60	Ig-like V-type.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GTCAAATCCAGCTCAACAGAC	0.353000													11	17					0	0	0.000978	0	0
OR51D1	390038	broad.mit.edu	37	11	4661821	4661821	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:4661821C>T	ENST00000357605.2	+	1	877	c.801C>T	c.(799-801)ccC>ccT	p.P267P		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTATGTACCCCTCATTGGGC	0.557000													36	61					0	0	0.003755	0	0
KSR2	283455	broad.mit.edu	37	12	117914313	117914313	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:117914313C>T	ENST00000425217.1	-	17	2505	c.2451G>A	c.(2449-2451)gaG>gaA	p.E817E	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Silent_p.E846E	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	846	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAGCTTATCCTCCTCTGTGT	0.607000													4	12					0	0	0.000602	0	0
IGKV2-24	28923	broad.mit.edu	37	2	89475938	89475938	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:89475938G>A	ENST00000484817.1	-	0	263																											CAGAGAACCGGTTAGAAATCT	0.502000													36	83					0	0	0.004878	0	0
GK2	2712	broad.mit.edu	37	4	80328367	80328367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:80328367G>A	ENST00000358842.3	-	1	1005	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	330					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTTAGCCAACGAATAACAGCA	0.428000													14	53					0	0	0.003163	0	0
COBLL1	22837	broad.mit.edu	37	2	165548907	165548907	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:165548907C>T	ENST00000375458.2	-	12	3345	c.3123_splice	c.e12-1	p.E1042_splice	COBLL1_ENST00000194871.6_Splice_Site_p.E1147_splice|COBLL1_ENST00000342193.4_Splice_Site_p.E1080_splice|COBLL1_ENST00000392717.2_Splice_Site_p.E1118_splice|COBLL1_ENST00000409184.3_Splice_Site_p.E1080_splice	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1118										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GAGTTATTTTCCTACAAAAAT	0.318000													7	17					0	0	0.001984	0	0
GLI2	2736	broad.mit.edu	37	2	121685022	121685022	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:121685022T>A	ENST00000452319.1	+	3	294	c.234T>A	c.(232-234)caT>caA	p.H78Q	GLI2_ENST00000361492.4_Missense_Mutation_p.H78Q|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	78					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ACGAGCCTCATTCTGTCCACG	0.622000													28	74					0	0	0.007291	0	0
ANKH	56172	broad.mit.edu	37	5	14758637	14758637	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:14758637C>T	ENST00000284268.6	-	3	714	c.384G>A	c.(382-384)acG>acA	p.T128T		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	128					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGGCCCTTCTCGTCTTGCTCC	0.448000													8	24					0	0	0.004482	0	0
SETBP1	26040	broad.mit.edu	37	18	42532839	42532839	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:42532839C>T	ENST00000282030.5	+	4	3830	c.3534C>T	c.(3532-3534)gcC>gcT	p.A1178A		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1178						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAGGCAAAGCCACAGGCTTCT	0.527000									Schinzel-Giedion syndrome				24	39					0	0	0.004656	0	0
LONRF2	164832	broad.mit.edu	37	2	100916188	100916188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:100916188G>A	ENST00000393437.3	-	5	1897	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S	LONRF2_ENST00000409647.1_Missense_Mutation_p.P177S	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	420					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CCTTTCTTGGGAATTTTTCCA	0.418000													17	48					0	0	0.010504	0	0
CWH43	80157	broad.mit.edu	37	4	49005819	49005819	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:49005819C>T	ENST00000226432.4	+	7	1053	c.870C>T	c.(868-870)ttC>ttT	p.F290F	CWH43_ENST00000513409.1_Silent_p.F263F	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	290					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTGTGTCTTCGCCATCTTTA	0.488000													21	30					0	0	0.001882	0	0
FAT4	79633	broad.mit.edu	37	4	126372253	126372253	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:126372253T>G	ENST00000394329.3	+	9	10095	c.10082T>G	c.(10081-10083)cTt>cGt	p.L3361R	FAT4_ENST00000335110.5_Missense_Mutation_p.L1659R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3361	Cadherin 32.				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						TCTGGAATTCTTGATCGAGAA	0.403000													27	63					0	0	0.007291	0	0
STRA13	201254	broad.mit.edu	37	17	79980702	79980702	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:79980702C>T	ENST00000392359.3	-	1	92	c.36_splice	c.e1+1	p.K12_splice	STRA13_ENST00000584347.1_Splice_Site_p.K12_splice|STRA13_ENST00000583767.1_5'UTR|STRA13_ENST00000306704.6_Splice_Site_p.K12_splice|STRA13_ENST00000580435.1_Splice_Site_p.K12_splice	NM_001271006.1	NP_001257935.1	A8MT69	CENPX_HUMAN	stimulated by retinoic acid 13	12					DNA repair	chromosome, centromeric region|Fanconi anaemia nuclear complex	DNA binding|protein binding					all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CGGCCCTCACCTTCCGGAAGC	0.741000													6	3					0	0	0.001984	0	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													8	33					0	0	0.004482	0	0
CD70	970	broad.mit.edu	37	19	6590921	6590921	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:6590921C>T	ENST00000245903.3	-	1	242	c.93G>A	c.(91-93)gtG>gtA	p.V31V	CD70_ENST00000423145.3_Silent_p.V31V	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	31					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						CGAGGCAGATCACCAAGCCCG	0.642000													32	51					0	0	0.002836	0	0
RDH16	8608	broad.mit.edu	37	12	57348915	57348915	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:57348915G>A	ENST00000398138.3	-	2	1203	c.347C>T	c.(346-348)tCc>tTc	p.S116F	RDH16_ENST00000360752.4_Intron	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	116					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CGTGGGCAAGGAGATGCCAGC	0.552000													7	16					0	0	0.001984	0	0
DUSP27	92235	broad.mit.edu	37	1	167097024	167097024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:167097024G>A	ENST00000361200.2	+	6	2822	c.2656G>A	c.(2656-2658)Gat>Aat	p.D886N	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.D886N|DUSP27_ENST00000443333.1_Missense_Mutation_p.D886N			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	886					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGTGATGGGGATGAGGACAC	0.498000													14	25					0	0	0.004007	0	0
ZP2	7783	broad.mit.edu	37	16	21211163	21211163	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:21211163G>A	ENST00000574002.1	-	16	2213	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	ZP2_ENST00000574091.1_Silent_p.F568F|ZP2_ENST00000219593.4_Silent_p.F577F|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	577	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CGACTGGATGGAAGGTGGTCT	0.502000													17	50					0	0	0.007413	0	0
TBC1D32	221322	broad.mit.edu	37	6	121615761	121615761	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:121615761T>C	ENST00000275159.6	-	11	1185	c.1186A>G	c.(1186-1188)Aag>Gag	p.K396E	TBC1D32_ENST00000398212.2_Missense_Mutation_p.K396E					TBC1 domain family, member 32																		TTCCTAGTCTTACACATTTCA	0.318000													31	92					0	0	0.003755	0	0
SOGA3	387104	broad.mit.edu	37	6	127796945	127796945	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:127796945C>T	ENST00000556132.1	-	6	3090	c.2226G>A	c.(2224-2226)ctG>ctA	p.L742L	SOGA3_ENST00000465909.2_Silent_p.L742L|SOGA3_ENST00000368268.2_Silent_p.L742L|SOGA3_ENST00000481848.2_Silent_p.L742L|SOGA3_ENST00000525778.1_Silent_p.L742L	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	742						integral to membrane											CGCGGATGCCCAGGTGCGAGG	0.677000													36	108					0	0	0.009718	0	0
TRBV28	28559	broad.mit.edu	37	7	142428863	142428863	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:142428863G>A	ENST00000390400.2	+	0	243																											TAAAATGAAAGAAAAAGGAGA	0.453000													6	18					0	0	0.001984	0	0
CD300LG	146894	broad.mit.edu	37	17	41939181	41939181	+	Missense_Mutation	SNP	G	G	A	rs147587037		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:41939181G>A	ENST00000317310.4	+	7	942	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	301						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGAGGAAAAGGAAGCCCCTTC	0.602000													19	15					0	0	0.001882	0	0
ROS1	6098	broad.mit.edu	37	6	117674322	117674322	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:117674322G>A	ENST00000368508.3	-	26	4350	c.4152C>T	c.(4150-4152)acC>acT	p.T1384T	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.T1378T	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1384					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGCTAACAAGGGTTTTTCCTG	0.308000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								9	30					0	0	0.004482	0	0
TFAP2B	7021	broad.mit.edu	37	6	50791256	50791256	+	Missense_Mutation	SNP	C	C	T	rs80338910		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:50791256C>T	ENST00000263046.4	+	3	411	c.245C>T	c.(244-246)cCc>cTc	p.P82L	TFAP2B_ENST00000393655.3_Missense_Mutation_p.P73L|TFAP2B_ENST00000489228.1_3'UTR			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	73	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TTCCCACCCCCCTACCAGCCG	0.682000													8	28					0	0	0.003080	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111595649	111595649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:111595649C>T	ENST00000261486.5	-	8	946	c.670G>A	c.(670-672)Gga>Aga	p.G224R		NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	224	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GGAGTTAATCCTAAGAAATAC	0.358000													9	25					0	0	0.008291	0	0
DNAH8	1769	broad.mit.edu	37	6	38897335	38897335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:38897335C>T	ENST00000359357.3	+	73	10770	c.10516C>T	c.(10516-10518)Ctt>Ttt	p.L3506F	DNAH8_ENST00000441566.1_Missense_Mutation_p.L3470F|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.L3723F|RP1-207H1.3_ENST00000453417.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGAGGACAGCCTTTCCTTGGG	0.413000													23	74					0	0	0.006320	0	0
DEFB118	117285	broad.mit.edu	37	20	29960723	29960723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:29960723G>A	ENST00000253381.2	+	2	155	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	41					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGCAAAGATGGAGAAGCAGTG	0.433000													15	22					0	0	0.004990	0	0
C9orf78	51759	broad.mit.edu	37	9	132593232	132593232	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:132593232G>A	ENST00000372447.3	-	6	513	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	C9orf78_ENST00000461762.1_5'UTR	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	154										kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				GAGGAAACACGGATGTTTTCT	0.473000													10	15					0	0	0.006214	0	0
CDCA7L	55536	broad.mit.edu	37	7	21942684	21942684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:21942684G>A	ENST00000406877.3	-	9	1525	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	CDCA7L_ENST00000356195.5_Missense_Mutation_p.R382W|CDCA7L_ENST00000373934.4_Missense_Mutation_p.R370W	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	416					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCACGCTTCCGACAGTAGCTG	0.493000													9	18					0	0	0.004482	0	0
TTC6	319089	broad.mit.edu	37	14	38273927	38273927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:38273927C>T	ENST00000553443.1	+	21	4072	c.4072C>T	c.(4072-4074)Cat>Tat	p.H1358Y	TTC6_ENST00000382320.3_Missense_Mutation_p.H72Y|TTC6_ENST00000267368.7_Missense_Mutation_p.H89Y|TTC6_ENST00000476979.1_Missense_Mutation_p.H89Y					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TGCCATTTCTCATTCTGATAA	0.398000													50	69					0	0	0.003610	0	0
COL18A1	80781	broad.mit.edu	37	21	46900762	46900762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:46900762C>T	ENST00000359759.4	+	12	2867	c.2846C>T	c.(2845-2847)cCt>cTt	p.P949L	COL18A1_ENST00000355480.5_Missense_Mutation_p.P714L|COL18A1_ENST00000400337.2_Missense_Mutation_p.P534L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	949	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCCGGGTTTCCTGGCCTCCCG	0.711000													9	9					0	0	0.000978	0	0
CARD6	84674	broad.mit.edu	37	5	40853624	40853624	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:40853624C>T	ENST00000254691.5	+	3	2389	c.2190C>T	c.(2188-2190)aaC>aaT	p.N730N	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	730					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TTCTAGAGAACTCCTGGCTCT	0.498000													46	156					0	0	0.003610	0	0
LAMA2	3908	broad.mit.edu	37	6	129833584	129833584	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:129833584G>A	ENST00000421865.2	+	63	8983	c.8934G>A	c.(8932-8934)ctG>ctA	p.L2978L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2978	Laminin G-like 5.				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	p.L2978L(1)		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)		GAGTTCTTCTGGGGATCAGTA	0.358000													25	67					0	0	0.003954	0	0
IL17RC	84818	broad.mit.edu	37	3	9965687	9965687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:9965687C>T	ENST00000295981.3	+	8	1176	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	IL17RC_ENST00000416074.2_Missense_Mutation_p.R105W|IL17RC_ENST00000413608.1_Missense_Mutation_p.R249W|IL17RC_ENST00000383812.4_Missense_Mutation_p.R234W|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Missense_Mutation_p.R249W|IL17RC_ENST00000455057.1_Missense_Mutation_p.R234W	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	320						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCCAAAACCCCGGTGGCACAA	0.577000													7	40					0	0	0.003080	0	0
AOC3	8639	broad.mit.edu	37	17	41006581	41006581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:41006581G>A	ENST00000308423.2	+	2	1877	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	AOC3_ENST00000591562.1_Missense_Mutation_p.E30K	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	573					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)	GGAGATGGAGGAGCAGGCCGC	0.657000													22	27					0	0	0.001882	0	0
OR7A5	26659	broad.mit.edu	37	19	14938706	14938706	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:14938706G>A	ENST00000322301.3	-	2	435	c.348C>T	c.(346-348)tcC>tcT	p.S116S	OR7A5_ENST00000594432.1_Silent_p.S116S|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						AGGCCATCACGGACAGGAGGA	0.478000													12	37					0	0	0.001855	0	0
C1orf173	127254	broad.mit.edu	37	1	75037506	75037506	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:75037506C>T	ENST00000326665.5	-	14	4106	c.3888G>A	c.(3886-3888)gaG>gaA	p.E1296E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1296	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						TGTCCTCTTCCTCCTCTGGGT	0.532000													28	75					0	0	0.006320	0	0
KYNU	8942	broad.mit.edu	37	2	143713841	143713841	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:143713841C>T	ENST00000264170.4	+	6	763	c.505C>T	c.(505-507)Cat>Tat	p.H169Y	KYNU_ENST00000409512.1_Missense_Mutation_p.H169Y|KYNU_ENST00000375773.2_Missense_Mutation_p.H169Y	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	169					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CCCTTCTGATCATGTAAGGAC	0.343000													5	16					0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9063963	9063963	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9063963G>A	ENST00000397910.4	-	3	23686	c.23483C>T	c.(23482-23484)tCc>tTc	p.S7828F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7830	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S7828Y(2)|p.S3461Y(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						AGGGGTCAGGGAGGAAGCTAG	0.542000													21	49					0	0	0.001882	0	0
RYR1	6261	broad.mit.edu	37	19	39008001	39008001	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:39008001C>T	ENST00000355481.4	+	66	9819	c.9688C>T	c.(9688-9690)Ctg>Ttg	p.L3230L	RYR1_ENST00000360985.3_Silent_p.L3230L|RYR1_ENST00000359596.3_Silent_p.L3230L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3230					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TACCCCAGTCCTGGGGCTCCC	0.637000													12	16					0	0	0.001368	0	0
HAS1	3036	broad.mit.edu	37	19	52217175	52217175	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:52217175G>A	ENST00000540069.2	-	5	1299	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	HAS1_ENST00000601714.1_Silent_p.F421F|HAS1_ENST00000222115.1_Silent_p.F414F|HAS1_ENST00000594621.1_3'UTR			Q92839	HAS1_HUMAN	hyaluronan synthase 1	414					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGGCCGCCACGAAGAAGGGGA	0.672000													6	22					0	0	0.006214	0	0
PLCH1	23007	broad.mit.edu	37	3	155200524	155200524	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:155200524C>T	ENST00000460012.1	-	23	3558	c.3201G>A	c.(3199-3201)gtG>gtA	p.V1067V	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.V1067V|PLCH1_ENST00000340059.7_Silent_p.V1105V|PLCH1_ENST00000334686.6_Silent_p.V1067V			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1105					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCTTGATTTTCACACCATGCA	0.478000													32	77					0	0	0.008361	0	0
SPC25	57405	broad.mit.edu	37	2	169733823	169733823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:169733823C>T	ENST00000282074.2	-	4	412	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	SPC25_ENST00000472216.2_5'UTR	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	91	Interaction with the N-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						TGCTTTTTGCCTTTTACTTCA	0.338000													13	37					0	0	0.001368	0	0
RP1L1	94137	broad.mit.edu	37	8	10470524	10470524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:10470524C>T	ENST00000382483.3	-	4	1307	c.1084G>A	c.(1084-1086)Gta>Ata	p.V362I		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	362					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)		AGGGGGTCTACCTCCCCCAGA	0.682000													27	34					0	0	0.005443	0	0
FAM83B	222584	broad.mit.edu	37	6	54805518	54805518	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:54805518C>T	ENST00000306858.7	+	5	1865	c.1749C>T	c.(1747-1749)acC>acT	p.T583T		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	583										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCCCAGACACCCCTACGAATG	0.468000													11	33					0	0	0.000978	0	0
FAM171A1	221061	broad.mit.edu	37	10	15290723	15290723	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:15290723G>A	ENST00000378116.4	-	5	675	c.669C>T	c.(667-669)ccC>ccT	p.P223P		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	223						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGACATAGATGGGACCATCCA	0.587000													21	49					0	0	0.010504	0	0
FCRL1	115350	broad.mit.edu	37	1	157771861	157771861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:157771861G>A	ENST00000358292.3	-	5	781	c.730C>T	c.(730-732)Cac>Tac	p.H244Y	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.H244Y|FCRL1_ENST00000368176.3_Missense_Mutation_p.H244Y	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	244	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity	p.H244N(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATATCCTCGTGATAAAACCAG	0.582000													13	28					0	0	0.001855	0	0
USP16	10600	broad.mit.edu	37	21	30400247	30400247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:30400247C>T	ENST00000334352.4	+	3	244	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	USP16_ENST00000399975.3_Missense_Mutation_p.R5W|USP16_ENST00000399976.2_Missense_Mutation_p.R5W|USP16_ENST00000535828.1_Intron	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	5					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						GGGAAAGAAACGGACAAAGGG	0.299000													3	14					0	0	0.004672	0	0
ANO4	121601	broad.mit.edu	37	12	101493365	101493365	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:101493365G>A	ENST00000392979.3	+	21	2272	c.1911G>A	c.(1909-1911)caG>caA	p.Q637Q	ANO4_ENST00000299222.9_Silent_p.Q192Q|ANO4_ENST00000550015.1_Silent_p.Q192Q|ANO4_ENST00000392977.3_Silent_p.Q672Q	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	672						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						GGTTAATTCAGAATTGGTGGA	0.343000										HNSCC(74;0.22)			22	32					0	0	0.003954	0	0
PAPPA2	60676	broad.mit.edu	37	1	176681099	176681099	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:176681099G>A	ENST00000367662.3	+	12	4944	c.3780G>A	c.(3778-3780)gaG>gaA	p.E1260E		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1260					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGAAGAAAGAGGATGAGGTTT	0.468000													6	23					0	0	0.001984	0	0
VPS13B	157680	broad.mit.edu	37	8	100523548	100523548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:100523548C>T	ENST00000358544.2	+	29	4627	c.4516C>T	c.(4516-4518)Cct>Tct	p.P1506S	VPS13B_ENST00000357162.2_Missense_Mutation_p.P1481S|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1506					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCTTTATTTTCCTTTACTTAA	0.353000													7	22					0	0	0.001984	0	0
MTUS2	23281	broad.mit.edu	37	13	29599514	29599514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:29599514G>A	ENST00000431530.3	+	1	767	c.709G>A	c.(709-711)Gca>Aca	p.A237T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	227						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						CGCTGTCCCGGCAGCTTTCCC	0.587000													16	28					0	0	0.004007	0	0
CSMD1	64478	broad.mit.edu	37	8	3267060	3267060	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:3267060G>A	ENST00000520002.1	-	14	2187	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F	CSMD1_ENST00000539096.1_Silent_p.F543F|CSMD1_ENST00000537824.1_Silent_p.F543F|CSMD1_ENST00000602723.1_Silent_p.F544F|CSMD1_ENST00000602557.1_Silent_p.F544F|CSMD1_ENST00000400186.3_Silent_p.F544F|CSMD1_ENST00000542608.1_Silent_p.F543F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	544	Sushi 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCCATGGAGGAAACTGCTGC	0.507000													4	5					0	0	0.009096	0	0
EIF2B5	8893	broad.mit.edu	37	3	183859858	183859858	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:183859858G>A	ENST00000273783.3	+	8	1424	c.1302_splice	c.e8+1	p.Q434_splice	EIF2B5_ENST00000444495.1_Splice_Site_p.Q434_splice	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	434					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TCACTTCCCAGGTGAGACCTG	0.507000													13	25					0	0	0.002450	0	0
ZNF670	93474	broad.mit.edu	37	1	247200868	247200868	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:247200868G>A	ENST00000366503.2	-	4	1211	c.1053C>T	c.(1051-1053)gcC>gcT	p.A351A		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GGCTTCGAAGGGCACTGGAAG	0.403000													22	27					0	0	0.003954	0	0
PGM1	5236	broad.mit.edu	37	1	64120092	64120092	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:64120092C>T	ENST00000371083.4	+	10	1976	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	PGM1_ENST00000483707.1_3'UTR|PGM1_ENST00000371084.3_Silent_p.I518I|PGM1_ENST00000540265.1_Silent_p.I321I	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	518					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGCTGTACATCGATAGCTATG	0.532000													11	22					0	0	0.000978	0	0
SCN10A	6336	broad.mit.edu	37	3	38798227	38798227	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:38798227C>T	ENST00000449082.2	-	9	1227	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	410					sensory perception	voltage-gated sodium channel complex		p.E410Q(1)		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)	GCTTCAATTTCATCAGTGGTT	0.498000													36	64					0	0	0.003271	0	0
CERS6	253782	broad.mit.edu	37	2	169487543	169487543	+	Silent	SNP	C	C	T	rs146884858		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:169487543C>T	ENST00000305747.6	+	4	1043	c.456C>T	c.(454-456)ttC>ttT	p.F152F	CERS6_ENST00000392687.4_Silent_p.F152F	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	152	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	p.F152F(1)									GAGTCAGATTCCTGAAAAAGG	0.294000													17	38					0	0	0.008871	0	0
LRP1B	53353	broad.mit.edu	37	2	141215150	141215150	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:141215150C>T	ENST00000389484.3	-	61	10667	c.9696G>A	c.(9694-9696)ggG>ggA	p.G3232G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3232					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTTGGTTTTCCCATCAGTCC	0.428000										TSP Lung(27;0.18)			14	45					0	0	0.003163	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142197710	142197710	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:142197710C>T	ENST00000471935.1	-	0	267																											CACCGTTATTCTGAAACTGAA	0.483000													12	34					0	0	0.001855	0	0
ZBTB1	22890	broad.mit.edu	37	14	64989825	64989825	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:64989825C>T	ENST00000358738.3	+	2	1994	c.1603C>T	c.(1603-1605)Cga>Tga	p.R535*	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Nonsense_Mutation_p.R535*|ZBTB1_ENST00000554015.1_Nonsense_Mutation_p.R535*	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R535*(1)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CTGCCCTTTTCGATGTCCTAA	0.363000													30	68					0	0	0.004289	0	0
C2CD2	25966	broad.mit.edu	37	21	43338965	43338965	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:43338965C>T	ENST00000380486.3	-	4	838	c.597_splice	c.e4+1	p.E199_splice	C2CD2_ENST00000329623.7_Splice_Site_p.E44_splice	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	199						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						ACGGACTGACCTCCCCCAGTG	0.517000													17	29					0	0	0.007413	0	0
LCT	3938	broad.mit.edu	37	2	136570092	136570092	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:136570092G>A	ENST00000264162.2	-	7	2152	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	714	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCCACACATGGTTCACGTGTT	0.537000													20	38					0	0	0.010504	0	0
SPANXD	64648	broad.mit.edu	37	X	140785801	140785801	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:140785801G>A	ENST00000370515.3	-	2	448	c.115C>T	c.(115-117)Ccg>Tcg	p.P39S		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					AGTTTTTTCGGAGCAGGTTGC	0.483000													35	23					0	0	0.003755	0	0
PTGDS	5730	broad.mit.edu	37	9	139873783	139873783	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:139873783C>T	ENST00000224167.2	+	3	438	c.363C>T	c.(361-363)ccC>ccT	p.P121P	PTGDS_ENST00000371625.3_Intron|PTGDS_ENST00000460340.1_3'UTR			P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	111					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCCTGGGCCCAGCCTGGGGG	0.716000													15	15					0	0	0.002450	0	0
DBX2	440097	broad.mit.edu	37	12	45429837	45429837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:45429837G>A	ENST00000332700.6	-	2	635	c.464C>T	c.(463-465)tCc>tTc	p.S155F		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	155						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)		gcgccgacaggacccaccgca	0.478000													7	10					0	0	0.001984	0	0
OR4K2	390431	broad.mit.edu	37	14	20344656	20344656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:20344656C>T	ENST00000298642.2	+	1	266	c.230C>T	c.(229-231)gCc>gTc	p.A77V		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTTCTTTCGCCACCCCAAAG	0.413000													43	67					0	0	0.007835	0	0
RP1L1	94137	broad.mit.edu	37	8	10467708	10467708	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:10467708C>T	ENST00000382483.3	-	4	4123	c.3900G>A	c.(3898-3900)gaG>gaA	p.E1300E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1300					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)		CTAATTGCACCTCTTCTTGCA	0.498000													17	50					0	0	0.007413	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588503	20588503	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:20588503G>A	ENST00000428453.1	-	0	4247																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CTTCCCTAGGGAAAACCTGAG	0.488000													3	24					0	0	0.004672	0	0
TRERF1	55809	broad.mit.edu	37	6	42196395	42196395	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:42196395C>T	ENST00000541110.1	-	18	3919	c.3351G>A	c.(3349-3351)aaG>aaA	p.K1117K	TRERF1_ENST00000340840.2_Silent_p.K1026K|TRERF1_ENST00000372917.4_Silent_p.K1026K|TRERF1_ENST00000372922.4_Silent_p.K1097K|TRERF1_ENST00000354325.2_Silent_p.K1014K			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1097	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCTTTTGATCTTGAAGAAGA	0.468000													80	288					0	0	0.003610	0	0
TNXB	7148	broad.mit.edu	37	6	32037995	32037995	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:32037995G>A	ENST00000375244.3	-	14	5388	c.5187C>T	c.(5185-5187)acC>acT	p.T1729T	TNXB_ENST00000375247.2_Silent_p.T1729T			P22105	TENX_HUMAN	tenascin XB	1811	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CATCCAGAGGGGTGACAGTGA	0.632000													44	129					0	0	0.003610	0	0
PLXDC1	57125	broad.mit.edu	37	17	37243946	37243946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:37243946C>T	ENST00000315392.4	-	8	1032	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	PLXDC1_ENST00000444911.2_Missense_Mutation_p.R234Q|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_Missense_Mutation_p.R201Q|PLXDC1_ENST00000394316.2_Missense_Mutation_p.R274Q	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	274					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GATGCTCCTTCGCCGAGATTC	0.572000													11	22					0	0	0.000978	0	0
CREBBP	1387	broad.mit.edu	37	16	3900838	3900838	+	Silent	SNP	T	T	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:3900838T>A	ENST00000262367.5	-	2	1067	c.258A>T	c.(256-258)atA>atT	p.I86I	CREBBP_ENST00000382070.3_Silent_p.I86I	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	86					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCACATTTCCTATTCCTGGGT	0.562000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						17	37					0	0	0.006122	0	0
PBRM1	55193	broad.mit.edu	37	3	52643747	52643747	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:52643747T>A	ENST00000356770.4	-	15	2055	c.2053A>T	c.(2053-2055)Aag>Tag	p.K685*	PBRM1_ENST00000409114.3_Nonsense_Mutation_p.K732*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.K717*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.K717*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.K717*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.K732*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.K717*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.K717*			Q86U86	PB1_HUMAN	polybromo 1	717	Bromo 5.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA 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)		TCTTGGTACTTGTTGGCCATC	0.398000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								22	46					0	0	0.001882	0	0
TENM1	10178	broad.mit.edu	37	X	123663718	123663718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:123663718C>T	ENST00000422452.2	-	16	2830	c.2767G>A	c.(2767-2769)Gga>Aga	p.G923R	TENM1_ENST00000371130.3_Missense_Mutation_p.G923R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ACATACCTTCCATCTTGCCGG	0.483000													26	20					0	0	0.009535	0	0
TRPM2	7226	broad.mit.edu	37	21	45825123	45825123	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:45825123C>T	ENST00000397928.1	+	17	3082	c.2637C>T	c.(2635-2637)ttC>ttT	p.F879F	TRPM2_ENST00000300482.5_Silent_p.F879F|TRPM2_ENST00000397932.2_Silent_p.F879F|TRPM2_ENST00000300481.9_Silent_p.F859F|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	879						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCTTGCTCTTCGTGGCAGGGC	0.622000													15	36					0	0	0.006122	0	0
COL5A1	1289	broad.mit.edu	37	9	137708903	137708903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:137708903C>T	ENST00000371817.3	+	53	4568	c.4154C>T	c.(4153-4155)cCa>cTa	p.P1385L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1385	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)		GAACCAGGTCCATCGGGGCCT	0.542000													12	32					0	0	0.001368	0	0
MDGA2	161357	broad.mit.edu	37	14	47566138	47566138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:47566138C>T	ENST00000426342.1	-	6	966	c.220G>A	c.(220-222)Gat>Aat	p.D74N	MDGA2_ENST00000439988.2_Missense_Mutation_p.D303N|MDGA2_ENST00000399232.2_Missense_Mutation_p.D372N|MDGA2_ENST00000357362.3_Missense_Mutation_p.D74N	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	303	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCAGCATCATCTGAGGTGATG	0.458000													17	43					0	0	0.008871	0	0
FAM83B	222584	broad.mit.edu	37	6	54806047	54806047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:54806047G>A	ENST00000306858.7	+	5	2394	c.2278G>A	c.(2278-2280)Gaa>Aaa	p.E760K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	760										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTCAAAGAAGGAAGTTAAGGG	0.368000													11	49					0	0	0.008291	0	0
ZNF831	128611	broad.mit.edu	37	20	57768850	57768850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:57768850C>T	ENST00000371030.2	+	1	2776	c.2776C>T	c.(2776-2778)Cct>Tct	p.P926S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	926						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)					ACCTCAGGCTCCTAGAGTGCT	0.642000													10	26					0	0	0.008291	0	0
ADCY8	114	broad.mit.edu	37	8	131896923	131896923	+	Missense_Mutation	SNP	C	C	T	rs147685814		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:131896923C>T	ENST00000286355.5	-	8	4088	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	ADCY8_ENST00000377928.3_Missense_Mutation_p.E666K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	666					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	p.E666K(1)		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)			TTGTTAATTTCCTCAGGCCCA	0.438000										HNSCC(32;0.087)			27	63					0	0	0.004656	0	0
PDP2	57546	broad.mit.edu	37	16	66919126	66919126	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:66919126C>G	ENST00000311765.2	+	2	1273	c.939C>G	c.(937-939)aaC>aaG	p.N313K	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	313					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		ATGCCTGGAACCAGGCCGAGC	0.592000													49	30					0	0	0.003610	0	0
RCN3	57333	broad.mit.edu	37	19	50045922	50045922	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:50045922T>G	ENST00000270645.3	+	6	1239	c.792T>G	c.(790-792)agT>agG	p.S264R		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	264	EF-hand 5.					endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		TGGATGGGAGTGAGGTGGGCC	0.677000													3	9					0	0	0.004672	0	0
PLCXD3	345557	broad.mit.edu	37	5	41381969	41381969	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:41381969G>A	ENST00000377801.3	-	2	845	c.771C>T	c.(769-771)gtC>gtT	p.V257V	PLCXD3_ENST00000328457.3_Silent_p.V257V			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	257					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCACCCCTTTGACCACAGTGC	0.418000													20	57					0	0	0.003330	0	0
CPAMD8	27151	broad.mit.edu	37	19	17013605	17013605	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:17013605C>T	ENST00000443236.1	-	35	4711	c.4680G>A	c.(4678-4680)caG>caA	p.Q1560Q		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1513						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTCAGGCTCCTGGAGGCTTA	0.657000													37	70					0	0	0.006230	0	0
OR4A5	81318	broad.mit.edu	37	11	51411976	51411976	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:51411976G>A	ENST00000319760.6	-	1	472	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CCAACAGAAGGAAGCAAACCT	0.473000													13	21					0	0	0.001855	0	0
NEDD4L	23327	broad.mit.edu	37	18	55992285	55992285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:55992285C>T	ENST00000456986.1	+	9	808	c.208C>T	c.(208-210)Cct>Tct	p.P70S	NEDD4L_ENST00000400345.3_Missense_Mutation_p.P191S|NEDD4L_ENST00000435432.2_Missense_Mutation_p.P70S|NEDD4L_ENST00000431212.2_Missense_Mutation_p.P70S|NEDD4L_ENST00000382850.4_Missense_Mutation_p.P191S|NEDD4L_ENST00000456173.2_Missense_Mutation_p.P70S|NEDD4L_ENST00000356462.6_Missense_Mutation_p.P191S|NEDD4L_ENST00000256832.7_Missense_Mutation_p.P70S|NEDD4L_ENST00000357895.5_Missense_Mutation_p.P183S|NEDD4L_ENST00000256830.9_Missense_Mutation_p.P191S|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_Missense_Mutation_p.P183S	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	191	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AGAGGAACTTCCTCCTCCTCC	0.498000													37	100					0	0	0.006999	0	0
PTPRD	5789	broad.mit.edu	37	9	8521541	8521541	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:8521541G>A	ENST00000381196.4	-	17	1240	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C	PTPRD_ENST00000397606.3_Missense_Mutation_p.R223C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R233C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R230C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R220C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R233C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R230C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R233C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R233C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R223C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R220C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	233					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)		GGTGGGACACGGCGAACTGGA	0.448000										TSP Lung(15;0.13)			15	13					0	0	0.003163	0	0
SLC26A8	116369	broad.mit.edu	37	6	35967773	35967773	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:35967773G>A	ENST00000490799.1	-	4	794	c.441C>T	c.(439-441)tcC>tcT	p.S147S	SLC26A8_ENST00000394602.2_Silent_p.S147S|SLC26A8_ENST00000355574.2_Silent_p.S147S	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	147					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ACTCACCAATGGACATTTGAT	0.398000													37	121					0	0	0.005524	0	0
LCE1A	353131	broad.mit.edu	37	1	152800123	152800123	+	Missense_Mutation	SNP	G	G	T	rs141081392	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:152800123G>T	ENST00000335123.2	+	1	175	c.175G>T	c.(175-177)Ggc>Tgc	p.G59C		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	59	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCTGGGGGCGGCTGCAGCTC	0.667000													5	51					0.000157383	0.000160796	0.003080	1	0
EPHA8	2046	broad.mit.edu	37	1	22913029	22913029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:22913029C>T	ENST00000166244.3	+	4	952	c.880C>T	c.(880-882)Cct>Tct	p.P294S	EPHA8_ENST00000538803.1_Missense_Mutation_p.P294S|EPHA8_ENST00000374644.4_Missense_Mutation_p.P294S	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	294	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGCCCGCTGCCCTCCCCACAG	0.687000													13	32					0	0	0.001368	0	0
LEPR	3953	broad.mit.edu	37	1	66102401	66102401	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:66102401C>T	ENST00000349533.6	+	20	3386	c.3201C>T	c.(3199-3201)ttC>ttT	p.F1067F	LEPR_ENST00000406510.3_Silent_p.F134F	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1067					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGGGAAATTTCCCTGAAGAAA	0.358000													24	63					0	0	0.002780	0	0
AC005609.1	0	broad.mit.edu	37	5	140242883	140242883	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140242883C>T	ENST00000502505.1	-	1	341	c.93G>A	c.(91-93)gcG>gcA	p.A31A	PCDHA14_ENST00000562220.1_RNA|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron																							ACCTGATCATCGCCATCTGCG	0.647000													8	26					0	0	0.006214	0	0
SAMD3	154075	broad.mit.edu	37	6	130536361	130536361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:130536361C>T	ENST00000532763.1	-	2	187	c.58G>A	c.(58-60)Gag>Aag	p.E20K	SAMD3_ENST00000439090.2_Missense_Mutation_p.E20K|SAMD3_ENST00000368134.2_Missense_Mutation_p.E20K|SAMD3_ENST00000324172.6_Missense_Mutation_p.E20K|SAMD3_ENST00000437477.2_Missense_Mutation_p.E20K|SAMD3_ENST00000457563.2_Missense_Mutation_p.E44K|SAMD3_ENST00000533296.1_5'UTR			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	20	SAM.									breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TGAACTAGCTCTCCTAAATTT	0.393000													7	25					0	0	0.004482	0	0
PLCL2	23228	broad.mit.edu	37	3	17052594	17052594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:17052594G>A	ENST00000418129.2	+	2	1843	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	PLCL2_ENST00000396755.2_Missense_Mutation_p.E460K|PLCL2_ENST00000432376.1_Missense_Mutation_p.E460K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	586	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TGTTACTGACGAAGATGAAGG	0.423000													9	23					0	0	0.006214	0	0
CTNND2	1501	broad.mit.edu	37	5	11022919	11022919	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:11022919G>A	ENST00000304623.8	-	17	3150	c.2961C>T	c.(2959-2961)atC>atT	p.I987I	CTNND2_ENST00000359640.2_Silent_p.I929I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.I554I|CTNND2_ENST00000511377.1_Silent_p.I896I|CTNND2_ENST00000503622.1_Silent_p.I650I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	987					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.I987I(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						CCAACTTCTCGATGCCACCGG	0.498000													13	36					0	0	0.002450	0	0
NBEA	26960	broad.mit.edu	37	13	35733774	35733774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:35733774G>A	ENST00000540320.1	+	22	4000	c.3466G>A	c.(3466-3468)Gaa>Aaa	p.E1156K	NBEA_ENST00000310336.4_Missense_Mutation_p.E1156K|NBEA_ENST00000379939.2_Missense_Mutation_p.E1156K|NBEA_ENST00000400445.3_Missense_Mutation_p.E1156K			Q8NFP9	NBEA_HUMAN	neurobeachin	1156						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)		CAAACAGGAGGAAAAACTACT	0.358000													3	10					0	0	0.004672	0	0
NLRP7	199713	broad.mit.edu	37	19	55450858	55450858	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:55450858G>A	ENST00000588756.1	-	6	1815	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	NLRP7_ENST00000448121.2_Silent_p.S443S|NLRP7_ENST00000590030.1_Silent_p.S443S|NLRP7_ENST00000328092.5_Silent_p.S443S|NLRP7_ENST00000340844.2_Silent_p.S443S|NLRP7_ENST00000446217.1_Silent_p.S471S|NLRP7_ENST00000592784.1_Silent_p.S443S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	443	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GACGGAGGTCGGACTCCTGCA	0.642000													9	33					0	0	0.006214	0	0
PPFIA2	8499	broad.mit.edu	37	12	81777804	81777804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:81777804C>T	ENST00000550584.2	-	8	1277	c.982G>A	c.(982-984)Gag>Aag	p.E328K	PPFIA2_ENST00000549396.1_Missense_Mutation_p.E328K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E175K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E310K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E229K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E328K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E254K|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E310K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E328K|RP11-315E17.1_ENST00000546936.1_RNA	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	254										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCACTTACCTCCCTAATGTCC	0.408000													3	19					0	0	0.004672	0	0
GGT7	2686	broad.mit.edu	37	20	33450629	33450629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:33450629G>A	ENST00000336431.5	-	3	589	c.545C>T	c.(544-546)tCt>tTt	p.S182F		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	182					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCCCAGGCCAGAACTGTGTGG	0.592000													22	39					0	0	0.002299	0	0
CLSTN3	9746	broad.mit.edu	37	12	7288818	7288818	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:7288818C>T	ENST00000537408.1	+	5	1333	c.795C>T	c.(793-795)atC>atT	p.I265I	CLSTN3_ENST00000266546.6_Silent_p.I253I			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	253					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACAAAAGGATCGAATATGCAC	0.552000													20	33					0	0	0.010504	0	0
ZNF174	7727	broad.mit.edu	37	16	3454464	3454464	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:3454464G>A	ENST00000268655.4	+	2	1026	c.441G>A	c.(439-441)gaG>gaA	p.E147E	LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000575752.1_Silent_p.E147E|ZNF174_ENST00000344823.5_Silent_p.E147E|ZNF174_ENST00000571936.1_Silent_p.E147E|ZNF174_ENST00000572544.1_Silent_p.E147E	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	147					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						TGCTCTTGGAGAAAACTGGAT	0.527000													35	94					0	0	0.006999	0	0
ABCB5	340273	broad.mit.edu	37	7	20778753	20778753	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:20778753G>A	ENST00000404938.2	+	24	3667	c.3015G>A	c.(3013-3015)ggG>ggA	p.G1005G	ABCB5_ENST00000258738.6_Silent_p.G560G	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	560					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GTCAAGAAGGGAAAAAGCCAG	0.478000													5	6					0	0	0.000602	0	0
ZNF598	90850	broad.mit.edu	37	16	2052210	2052210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:2052210C>T	ENST00000563630.1	-	5	969	c.727G>A	c.(727-729)Gag>Aag	p.E243K	ZNF598_ENST00000431526.1_Missense_Mutation_p.E298K|ZNF598_ENST00000562103.1_Missense_Mutation_p.E243K			Q86UK7	ZN598_HUMAN	zinc finger protein 598	298						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TGCTCACCCTCGTTCCGGCGC	0.692000													4	8					0	0	0.009096	0	0
MINOS1	440574	broad.mit.edu	37	1	19949983	19949983	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:19949983T>C	ENST00000322753.6	+	3	184	c.128T>C	c.(127-129)tTa>tCa	p.L43S	MINOS1-NBL1_ENST00000602662.1_Intron|MINOS1_ENST00000486890.1_3'UTR	NM_001032363.3|NM_001204082.1|NM_001204083.1	NP_001027535.1|NP_001191011.1|NP_001191012.1	Q5TGZ0	CA151_HUMAN	mitochondrial inner membrane organizing system 1	43						integral to membrane|mitochondrion											ATGTGGCCATTAGCCTTCGGT	0.393000													33	77					0	0	0.003271	0	0
RMDN2	151393	broad.mit.edu	37	2	38178549	38178549	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:38178549T>C	ENST00000407257.1	+	2	338	c.191T>C	c.(190-192)tTa>tCa	p.L64S	RMDN2_ENST00000234195.3_Missense_Mutation_p.L64S|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.L64S|RMDN2_ENST00000354545.2_Intron					regulator of microtubule dynamics 2																		AGTAGAAGGTTATTATCTGTA	0.358000													14	33					0	0	0.002450	0	0
ERAP2	64167	broad.mit.edu	37	5	96224936	96224936	+	Silent	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:96224936T>C	ENST00000437043.3	+	5	1608	c.897T>C	c.(895-897)gcT>gcC	p.A299A	ERAP2_ENST00000379904.4_Silent_p.A254A|ERAP2_ENST00000510309.1_Silent_p.A299A|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	299					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CACATTATGCTTTGCAGGCAT	0.393000													13	37					0	0	0.002450	0	0
GFRAL	389400	broad.mit.edu	37	6	55214904	55214904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:55214904G>A	ENST00000340465.2	+	4	417	c.331G>A	c.(331-333)Gat>Aat	p.D111N		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	111						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CGTGAAAGAGGATAAATTCAA	0.294000													7	23					0	0	0.004482	0	0
STAB2	55576	broad.mit.edu	37	12	104048356	104048356	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:104048356C>T	ENST00000388887.2	+	13	1635	c.1431C>T	c.(1429-1431)ctC>ctT	p.L477L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	477	FAS1 1.				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						AGCTTAAACTCCATGGAGGCA	0.403000													6	24					0	0	0.001984	0	0
DBH	1621	broad.mit.edu	37	9	136508610	136508610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:136508610G>A	ENST00000393056.2	+	4	832	c.820G>A	c.(820-822)Gac>Aac	p.D274N		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	274					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCCCGAGATGGACAGCGTCCC	0.652000													22	50					0	0	0.002780	0	0
TENM2	57451	broad.mit.edu	37	5	167642239	167642239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:167642239G>A	ENST00000519204.1	+	20	3795	c.3677G>A	c.(3676-3678)gGa>gAa	p.G1226E	TENM2_ENST00000520394.1_Missense_Mutation_p.G1108E|TENM2_ENST00000518659.1_Missense_Mutation_p.G1347E|TENM2_ENST00000545108.1_Missense_Mutation_p.G1346E|TENM2_ENST00000403607.2_Missense_Mutation_p.G1171E					teneurin transmembrane protein 2																		TGCGGGGATGGAGGGAAGGCC	0.557000													28	61					0	0	0.002096	0	0
CACNA1S	779	broad.mit.edu	37	1	201019617	201019617	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:201019617T>C	ENST00000362061.3	-	34	4367	c.4141A>G	c.(4141-4143)Atg>Gtg	p.M1381V	CACNA1S_ENST00000367338.3_Missense_Mutation_p.M1362V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1381	Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAATTGTCCATGATGACAGCC	0.552000													15	33					0	0	0.003163	0	0
EPPK1	83481	broad.mit.edu	37	8	144940269	144940269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:144940269C>T	ENST00000525985.1	-	2	7224	c.7153G>A	c.(7153-7155)Ggc>Agc	p.G2385S				P58107	EPIPL_HUMAN	epiplakin 1	2385						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGAAGAAGCCCTTGGTGTCG	0.647000													11	351					0	0	0.000978	0	0
GALNT15	117248	broad.mit.edu	37	3	16268951	16268951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:16268951G>A	ENST00000339732.5	+	10	2367	c.1864G>A	c.(1864-1866)Gga>Aga	p.G622R	GALNT15_ENST00000437509.1_Intron	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		TCCGTGTGATGGAAAAGCCCG	0.433000													22	40					0	0	0.003954	0	0
COL4A5	1287	broad.mit.edu	37	X	107834830	107834830	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:107834830G>A	ENST00000328300.6	+	21	1623	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E	COL4A5_ENST00000361603.2_Missense_Mutation_p.G460E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	460	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			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						GGCCCCCCAGGATCTCCAGGT	0.398000									Alport syndrome with Diffuse Leiomyomatosis				31	15					0	0	0.004289	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378226	31378226	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:31378226G>A	ENST00000297142.3	-	2	979	c.657C>T	c.(655-657)ccC>ccT	p.P219P		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	219					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CATGCCCTGGGGGAGTGGTGA	0.527000													13	63					0	0	0.002450	0	0
DPP4	1803	broad.mit.edu	37	2	162875264	162875264	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:162875264C>T	ENST00000360534.3	-	16	1955	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	465					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	p.A465A(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	GATAATACTTCGCCTCTTTAC	0.473000													15	49					0	0	0.003163	0	0
PCDH1	5097	broad.mit.edu	37	5	141243015	141243015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:141243015C>T	ENST00000287008.3	-	3	3028	c.2881G>A	c.(2881-2883)Ggc>Agc	p.G961S	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000394536.3_Missense_Mutation_p.G961S|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.G949S|PCDH1_ENST00000536585.1_Missense_Mutation_p.G939S	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	961					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCAGGGCTGCCTGGTGGGTAG	0.637000													7	16					0	0	0.003080	0	0
WDR12	55759	broad.mit.edu	37	2	203762097	203762097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:203762097G>A	ENST00000261015.3	-	5	1129	c.380C>T	c.(379-381)tCc>tTc	p.S127F		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	127	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TCCTTCCAAGGACCAGATCCG	0.378000													108	252					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179621414	179621414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179621414C>T	ENST00000589042.1	-	46	11013	c.10789G>A	c.(10789-10791)Gaa>Aaa	p.E3597K	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.E3426K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3283							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)			GACTTAATTTCCTTTTGAGAT	0.408000													16	33					0	0	0.003163	0	0
RAB4A	5867	broad.mit.edu	37	1	229431640	229431640	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:229431640C>T	ENST00000366690.4	+	4	481	c.273C>T	c.(271-273)ctC>ctT	p.L91L	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	86							GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				GGGCTCTCCTCGTCTATGATA	0.552000													14	26					0	0	0.003163	0	0
CDC40	51362	broad.mit.edu	37	6	110551240	110551240	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:110551240A>T	ENST00000368932.1	+	16	1747	c.1646A>T	c.(1645-1647)cAt>cTt	p.H549L	CDC40_ENST00000368930.1_Intron|CDC40_ENST00000368933.1_Intron|CDC40_ENST00000307731.1_Missense_Mutation_p.H549L|CDC40_ENST00000445340.2_Intron			O60508	PRP17_HUMAN	cell division cycle 40	549					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TTTAAAGCTCATGATAAAGTG	0.373000													12	36					0	0	0.001368	0	0
INPPL1	3636	broad.mit.edu	37	11	71944756	71944756	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:71944756T>C	ENST00000298229.2	+	19	2384	c.2180T>C	c.(2179-2181)gTt>gCt	p.V727A	INPPL1_ENST00000538751.1_Missense_Mutation_p.V485A|INPPL1_ENST00000541756.1_Missense_Mutation_p.V485A	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	727					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain 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						ACATTTGAGGTTGGAGTTACC	0.542000													18	60					0	0	0.002780	0	0
ABCA9	10350	broad.mit.edu	37	17	67016591	67016591	+	Silent	SNP	G	G	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:67016591G>C	ENST00000340001.4	-	19	2749	c.2538C>G	c.(2536-2538)gtC>gtG	p.V846V	ABCA9_ENST00000453985.2_Silent_p.V846V|ABCA9_ENST00000370732.2_Silent_p.V846V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	846					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTATTGCACAGACCTGCTGCC	0.423000													38	34					0	0	0.002522	0	0
ZNF230	7773	broad.mit.edu	37	19	44514741	44514741	+	Missense_Mutation	SNP	C	C	T	rs112504832	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:44514741C>T	ENST00000429154.2	+	5	778	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CTCAGCTCTTCGTATTCACCA	0.448000													20	44					0	0	0.010504	0	0
NCKAP1	10787	broad.mit.edu	37	2	183859598	183859598	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:183859598G>A	ENST00000360982.2	-	9	1535	c.777C>T	c.(775-777)ctC>ctT	p.L259L	NCKAP1_ENST00000361354.3_Silent_p.L253L	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	253					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CATCCAAAGAGAGGTATTCAC	0.343000													24	69					0	0	0.003330	0	0
ATRN	8455	broad.mit.edu	37	20	3559287	3559287	+	Silent	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:3559287T>C	ENST00000262919.5	+	15	2480	c.2412T>C	c.(2410-2412)acT>acC	p.T804T	ATRN_ENST00000446916.2_Silent_p.T804T	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	804	C-type lectin.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AAATTACTACTGCCAAGGAGA	0.363000													17	38					0	0	0.010504	0	0
TMEM59L	25789	broad.mit.edu	37	19	18726820	18726820	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:18726820C>T	ENST00000600490.1	+	5	629	c.444C>T	c.(442-444)tcC>tcT	p.S148S	TMEM59L_ENST00000262817.3_Silent_p.S148S			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	148						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GGGCCCTCTCCCTCTTGGACT	0.507000													24	66					0	0	0.003330	0	0
TUBG1	7283	broad.mit.edu	37	17	40766579	40766579	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:40766579C>T	ENST00000251413.3	+	10	1124	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	354					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GGGGCCCCGCCAGCATCCAGG	0.647000													25	35					0	0	0.008361	0	0
DIDO1	11083	broad.mit.edu	37	20	61511906	61511906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:61511906C>T	ENST00000266070.4	-	16	5727	c.5402G>A	c.(5401-5403)gGa>gAa	p.G1801E	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1801E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1801	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTCTGGGCTCCGAATCTGGC	0.622000													39	92					0	0	0.008740	0	0
CACNA1A	773	broad.mit.edu	37	19	13418632	13418632	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:13418632G>A	ENST00000360228.5	-	15	1949	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	CACNA1A_ENST00000573710.2_Silent_p.F651F	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	651					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GAAAAGTATCGAAGTTGGTGG	0.557000													23	54					0	0	0.003954	0	0
TRUB2	26995	broad.mit.edu	37	9	131073167	131073167	+	Splice_Site	SNP	T	T	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:131073167T>A	ENST00000372890.4	-	7	1002	c.670_splice	c.e7+1	p.L223_splice	TRUB2_ENST00000546104.1_Splice_Site_p.L167_splice|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	223					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CCAACCTACCTAAGAGGAATT	0.552000													26	52					0	0	0.005443	0	0
SKAP1	8631	broad.mit.edu	37	17	46423357	46423357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:46423357C>T	ENST00000336915.6	-	4	259	c.190G>A	c.(190-192)Gga>Aga	p.G64R	SKAP1_ENST00000584924.1_Missense_Mutation_p.G64R	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	64					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CTGTCCTGTCCAATGTCTCCC	0.428000													9	17					0	0	0.008291	0	0
OTOF	9381	broad.mit.edu	37	2	26739411	26739411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:26739411C>T	ENST00000272371.2	-	5	510	c.384G>A	c.(382-384)tgG>tgA	p.W128*	OTOF_ENST00000403946.3_Nonsense_Mutation_p.W128*	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	128					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCATCGTCCCAGGAGCCCA	0.642000													29	54					0	0	0.009535	0	0
S100A2	6273	broad.mit.edu	37	1	153533975	153533975	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:153533975G>A	ENST00000368708.3	-	3	606	c.234C>T	c.(232-234)ttC>ttT	p.F78F	S100A2_ENST00000368707.4_3'UTR|S100A2_ENST00000368709.1_Silent_p.F78F|S100A2_ENST00000368710.1_Silent_p.F78F|S100A2_ENST00000497140.1_Silent_p.F45F|S100A2_ENST00000487430.2_Silent_p.F78F	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	79	EF-hand 2.				endothelial cell migration		calcium ion binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGAGTGCCAGGAAAACAGCAT	0.542000													23	100					0	0	0.003954	0	0
ARAP3	64411	broad.mit.edu	37	5	141052692	141052692	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:141052692G>A	ENST00000239440.4	-	7	1046	c.981C>T	c.(979-981)ttC>ttT	p.F327F	ARAP3_ENST00000508305.1_Silent_p.F249F|ARAP3_ENST00000513878.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	327	PH 1.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CACCCTTAGGGAAGGGGTCCT	0.552000													5	30					0	0	0.003080	0	0
CACNA1S	779	broad.mit.edu	37	1	201047112	201047112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:201047112C>T	ENST00000362061.3	-	11	1740	c.1514G>A	c.(1513-1515)tGt>tAt	p.C505Y	CACNA1S_ENST00000367338.3_Missense_Mutation_p.C505Y	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	505					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GATACCGCTACACACCACGAA	0.577000													25	36					0	0	0.005443	0	0
STYK1	55359	broad.mit.edu	37	12	10783863	10783863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:10783863C>T	ENST00000075503.3	-	5	752	c.232G>A	c.(232-234)Gga>Aga	p.G78R		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	78						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CCTCCATGTCCTGCTTCCCAG	0.562000										HNSCC(73;0.22)			24	49					0	0	0.002299	0	0
OR52N4	390072	broad.mit.edu	37	11	5776591	5776591	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:5776591G>A	ENST00000317254.3	+	1	669	c.621G>A	c.(619-621)ctG>ctA	p.L207L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TTGCCCTCCTGATTTGGGGCT	0.488000													27	49					0	0	0.005443	0	0
SCN10A	6336	broad.mit.edu	37	3	38798279	38798279	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:38798279G>A	ENST00000449082.2	-	9	1175	c.1176C>T	c.(1174-1176)atC>atT	p.I392I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	392					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)	CTACAGCCAAGATCAAGTTGA	0.478000													19	69					0	0	0.007413	0	0
LPA	4018	broad.mit.edu	37	6	161006198	161006198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:161006198C>T	ENST00000447678.1	-	27	4289	c.4169G>A	c.(4168-4170)cGa>cAa	p.R1390Q	LPA_ENST00000316300.5_Missense_Mutation_p.R1390Q	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3898	Kringle 13.				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)	TCCATCACCTCGGTAGCAGTC	0.453000													39	96					0	0	0.008740	0	0
ZNF214	7761	broad.mit.edu	37	11	7021860	7021860	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:7021860G>A	ENST00000278314.4	-	3	1369	c.1054C>T	c.(1054-1056)Cac>Tac	p.H352Y	ZNF214_ENST00000536068.1_Missense_Mutation_p.H352Y	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCTCCTATGTGAAGTCTCTGG	0.368000													6	33					0	0	0.001168	0	0
ZNF300	91975	broad.mit.edu	37	5	150276037	150276037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:150276037G>A	ENST00000446148.2	-	7	1239	c.812C>T	c.(811-813)tCc>tTc	p.S271F	ZNF300_ENST00000394226.2_Missense_Mutation_p.S255F|ZNF300_ENST00000418587.2_Missense_Mutation_p.S219F|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.S255F	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGAATAAGGGATTGTGTATT	0.353000													20	48					0	0	0.007413	0	0
OR6C3	254786	broad.mit.edu	37	12	55726161	55726161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:55726161C>T	ENST00000379667.1	+	1	677	c.677C>T	c.(676-678)cCg>cTg	p.P226L		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTGAGAATCCCGTCTGCCAGT	0.353000													13	28					0	0	0.001855	0	0
TMIGD1	388364	broad.mit.edu	37	17	28656313	28656313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:28656313C>T	ENST00000328886.4	-	3	389	c.317G>A	c.(316-318)gGg>gAg	p.G106E	TMIGD1_ENST00000538566.2_Missense_Mutation_p.G106E	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	106	Ig-like C2-type 1.					integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						CTGATCCCTCCCCAGCCTGCA	0.458000													13	37					0	0	0.002450	0	0
CLDN1	9076	broad.mit.edu	37	3	190026182	190026182	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:190026182G>A	ENST00000295522.3	-	4	788	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	174					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		AGAAGGCAGAGAGAAGCAGCA	0.493000													9	38					0	0	0.006214	0	0
APBB2	323	broad.mit.edu	37	4	40936484	40936484	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:40936484G>A	ENST00000295974.8	-	10	1869	c.1240C>T	c.(1240-1242)Cca>Tca	p.P414S	APBB2_ENST00000506352.1_Missense_Mutation_p.P393S|APBB2_ENST00000508593.1_Missense_Mutation_p.P415S|APBB2_ENST00000513140.1_Missense_Mutation_p.P393S	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	414	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TTGGCTTCTGGGTCACTGTTG	0.383000													25	79					0	0	0.009535	0	0
SNHG14	104472715	broad.mit.edu	37	15	25425679	25425679	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:25425679G>A	ENST00000441592.2	+	0	575				SNORD115-6_ENST00000363942.1_RNA																							GTTCTGAAGAGAGGTGATGAC	0.502000													58	177					0	0	0.003610	0	0
PI4KA	5297	broad.mit.edu	37	22	21088121	21088121	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:21088121G>A	ENST00000255882.6	-	35	4149	c.4063C>T	c.(4063-4065)Ctg>Ttg	p.L1355L	PI4KA_ENST00000572273.1_Silent_p.L1297L|PI4KA_ENST00000414196.3_Silent_p.L107L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1297					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GACAGCCCCAGGGTCAGCAGC	0.587000													23	54					0	0	0.003954	0	0
SNHG14	104472715	broad.mit.edu	37	15	25438546	25438546	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:25438546G>A	ENST00000424208.1	+	0	1405				SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1																						TTACGCTGAGGCCCAGTCTAG	0.502000													59	133					0	0	0.003610	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60241098	60241098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:60241098G>A	ENST00000296597.5	+	1	143	c.16G>A	c.(16-18)Gat>Aat	p.D6N	NDUFAF2_ENST00000511107.1_Missense_Mutation_p.D6N	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2	6						membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	p.D6Y(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TTGGTCTCAGGATTTGTTCCG	0.607000													6	11					0	0	0.001168	0	0
KCNH2	3757	broad.mit.edu	37	7	150648080	150648080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:150648080G>A	ENST00000392968.2	-	6	2906	c.1786C>T	c.(1786-1788)Ccc>Tcc	p.P596S	KCNH2_ENST00000330883.4_Missense_Mutation_p.P352S|KCNH2_ENST00000430723.3_Missense_Mutation_p.P692S|KCNH2_ENST00000262186.5_Missense_Mutation_p.P692S			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	692					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TGGCGCAGGGGATTGGGGATC	0.647000													18	29					0	0	0.007413	0	0
ZNF595	152687	broad.mit.edu	37	4	59433	59433	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:59433G>A	ENST00000509152.2	+	2	299	c.114G>A	c.(112-114)agG>agA	p.R38R	ZNF595_ENST00000526473.2_Silent_p.R38R|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AGAACTACAGGAACCTGGTCT	0.438000													14	360					0	0	0.006122	0	0
FAM83B	222584	broad.mit.edu	37	6	54805265	54805265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:54805265C>T	ENST00000306858.7	+	5	1612	c.1496C>T	c.(1495-1497)tCc>tTc	p.S499F		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	499										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGAATTGAATCCTACTTAAAT	0.403000													13	44					0	0	0.001855	0	0
VNN2	8875	broad.mit.edu	37	6	133070846	133070846	+	Silent	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:133070846A>G	ENST00000326499.6	-	6	1483	c.1359T>C	c.(1357-1359)ccT>ccC	p.P453P	VNN2_ENST00000525289.1_Silent_p.P232P|VNN2_ENST00000525270.1_Silent_p.P400P	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	453					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CAAATTTTCCAGGTGACAGAT	0.363000													4	13					0	0	0.009096	0	0
FILIP1	27145	broad.mit.edu	37	6	76024867	76024867	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:76024867C>T	ENST00000393004.2	-	5	902	c.681G>A	c.(679-681)aaG>aaA	p.K227K	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.K128K|FILIP1_ENST00000237172.7_Silent_p.K227K			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	227										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TAGCATTTTCCTTTTCTTTGC	0.343000													12	52					0	0	0.000978	0	0
ZNF451	26036	broad.mit.edu	37	6	57017092	57017092	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:57017092C>T	ENST00000370706.4	+	12	3070	c.2826C>T	c.(2824-2826)ttC>ttT	p.F942F	RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Silent_p.F942F|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Silent_p.F894F	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	942					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GATGCTTCTTCCTTCATCCTC	0.368000													7	51					0	0	0.003080	0	0
LAMA1	284217	broad.mit.edu	37	18	7024446	7024446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:7024446G>A	ENST00000389658.3	-	18	2515	c.2422C>T	c.(2422-2424)Ctc>Ttc	p.L808F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	808	Laminin EGF-like 7.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCATCATTGAGGTGGCAGGTG	0.438000													4	17					0	0	0.000602	0	0
PADI3	51702	broad.mit.edu	37	1	17601191	17601191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:17601191C>T	ENST00000375460.3	+	11	1257	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	406					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGCCTGGACTCCTTTGGGAAC	0.607000											OREG0013148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	30					0	0	0.000978	0	0
BPIFA3	128861	broad.mit.edu	37	20	31805433	31805433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:31805433C>T	ENST00000375454.3	+	1	301	c.91C>T	c.(91-93)Caa>Taa	p.Q31*	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Nonsense_Mutation_p.Q31*	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	31						extracellular region	lipid binding										TGGCCTGGCCCAAGCCCACAG	0.622000													9	27					0	0	0.006214	0	0
OR51M1	390059	broad.mit.edu	37	11	5411136	5411136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:5411136C>T	ENST00000328611.3	+	1	530	c.508C>T	c.(508-510)Cct>Tct	p.P170S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	170						integral to membrane	olfactory receptor activity	p.I169>?(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCACTATCCCTATTGTCCT	0.547000													49	124					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9088781	9088781	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9088781T>C	ENST00000397910.4	-	1	3237	c.3034A>G	c.(3034-3036)Act>Gct	p.T1012A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1012	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						CTGATAGAAGTTGCTTCCATG	0.478000													41	91					0	0	0.008740	0	0
TTN	7273	broad.mit.edu	37	2	179640203	179640203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179640203C>T	ENST00000589042.1	-	28	6612	c.6388G>A	c.(6388-6390)Gaa>Aaa	p.E2130K	TTN_ENST00000342992.6_Missense_Mutation_p.E2130K|TTN_ENST00000359218.5_Missense_Mutation_p.E2084K|TTN_ENST00000460472.2_Missense_Mutation_p.E2084K|TTN_ENST00000360870.5_Missense_Mutation_p.E2130K|TTN_ENST00000342175.6_Missense_Mutation_p.E2084K|TTN_ENST00000591111.1_Missense_Mutation_p.E2130K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1891	Ig-like 10.						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)			ACATTGTCTTCGGGCCAGTAC	0.483000													10	26					0	0	0.000978	0	0
COL17A1	1308	broad.mit.edu	37	10	105815664	105815664	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:105815664C>A	ENST00000353479.5	-	18	1853	c.1563G>T	c.(1561-1563)aaG>aaT	p.K521N	COL17A1_ENST00000480127.1_5'UTR|COL17A1_ENST00000369733.3_Missense_Mutation_p.K521N	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	521	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGAGGCGGTCCTTTTCTATTC	0.592000													18	50					3.99206e-14	4.12194e-14	0.007413	1	0
PLCXD3	345557	broad.mit.edu	37	5	41382154	41382154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:41382154G>A	ENST00000377801.3	-	2	660	c.586C>T	c.(586-588)Cat>Tat	p.H196Y	PLCXD3_ENST00000328457.3_Missense_Mutation_p.H196Y			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	196	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACTGGACTATGGTAGAAGACC	0.498000													19	51					0	0	0.006122	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855633	12855633	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:12855633C>T	ENST00000332296.7	+	4	1016	c.913C>T	c.(913-915)Cta>Tta	p.L305L	PRAMEF1_ENST00000400814.3_Silent_p.L60L	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	305										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTATGGCTACCTATTGGAAGA	0.473000													26	61					0	0	0.003755	0	0
HTR2A	3356	broad.mit.edu	37	13	47409312	47409312	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:47409312C>G	ENST00000378688.4	-	3	1207	c.1076G>C	c.(1075-1077)gGg>gCg	p.G359A	HTR2A_ENST00000543956.1_Missense_Mutation_p.G275A|HTR2A_ENST00000542664.1_Missense_Mutation_p.G359A			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	359					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GAGCAGGGCCCCAATGACATC	0.473000													17	35					0	0	0.006122	0	0
FANCC	2176	broad.mit.edu	37	9	98009753	98009753	+	Silent	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:98009753A>G	ENST00000289081.3	-	3	465	c.211T>C	c.(211-213)Ttg>Ctg	p.L71L	FANCC_ENST00000375305.1_Silent_p.L71L	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	71					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GCTTTTGCCAACAGTTGACCA	0.328000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				14	54					0	0	0.003163	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12941848	12941848	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:12941848C>T	ENST00000235349.5	-	3	772	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	234										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGAAGATTCCTCATGTGGC	0.488000													96	202					0	0	0.003610	0	0
YARS2	51067	broad.mit.edu	37	12	32908665	32908665	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:32908665G>A	ENST00000324868.8	-	1	171	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	48					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	AGAAGTCCTTGAACAGACCTC	0.577000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	84					0	0	0.006230	0	0
COL5A1	1289	broad.mit.edu	37	9	137687133	137687133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:137687133G>A	ENST00000371817.3	+	34	3185	c.2771G>A	c.(2770-2772)cGg>cAg	p.R924Q		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	924	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)		AGAGGCCCCCGGGGCATCACT	0.632000													26	54					0	0	0.006320	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216442	20216442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:20216442C>T	ENST00000331723.1	+	1	856	c.856C>T	c.(856-858)Ctc>Ttc	p.L286F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTGAACCCCCTCATCTACAC	0.418000													17	40					0	0	0.004990	0	0
RIMS1	22999	broad.mit.edu	37	6	72967938	72967938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:72967938G>A	ENST00000264839.7	+	17	2881	c.2881G>A	c.(2881-2883)Gat>Aat	p.D961N	RIMS1_ENST00000522291.1_Missense_Mutation_p.D960N|RIMS1_ENST00000401910.3_Missense_Mutation_p.D434N|RIMS1_ENST00000520567.1_Missense_Mutation_p.D960N|RIMS1_ENST00000425662.2_Missense_Mutation_p.D354N|RIMS1_ENST00000517960.1_Missense_Mutation_p.D960N|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000523963.1_Missense_Mutation_p.D435N|RIMS1_ENST00000491071.2_Missense_Mutation_p.D961N|RIMS1_ENST00000521978.1_Missense_Mutation_p.D961N|RIMS1_ENST00000348717.5_Missense_Mutation_p.D960N|RIMS1_ENST00000518273.1_Missense_Mutation_p.D961N|RIMS1_ENST00000517827.1_Missense_Mutation_p.D420N			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	961					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCGCGGCAATGATCAGGGAAA	0.438000													7	18					0	0	0.003080	0	0
OR10A5	144124	broad.mit.edu	37	11	6867102	6867102	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:6867102C>T	ENST00000299454.4	+	1	220	c.189C>T	c.(187-189)ttC>ttT	p.F63F	OR10A5_ENST00000379831.2_Silent_p.F67F			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGTACTTCTTCCTCAGAAACT	0.473000													35	82					0	0	0.003610	0	0
STARD13	90627	broad.mit.edu	37	13	33704280	33704280	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:33704280C>T	ENST00000336934.5	-	5	650	c.534G>A	c.(532-534)agG>agA	p.R178R	STARD13_ENST00000399365.3_Silent_p.R60R|STARD13_ENST00000255486.4_Silent_p.R170R	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	178					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TGGTCGTGTTCCTCATCCCCG	0.607000													9	19					0	0	0.006214	0	0
SDPR	8436	broad.mit.edu	37	2	192701092	192701092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:192701092G>A	ENST00000304141.4	-	2	1164	c.835C>T	c.(835-837)Cac>Tac	p.H279Y		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	279						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	ATTTTCTGGTGATTTGACGTG	0.448000													40	99					0	0	0.009718	0	0
DNAH10	196385	broad.mit.edu	37	12	124303737	124303737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:124303737G>A	ENST00000409039.3	+	22	3611	c.3586G>A	c.(3586-3588)Gag>Aag	p.E1196K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1196	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAGATAGAGGAGTTTGCAAA	0.393000													5	12					0	0	0.000602	0	0
ZNF366	167465	broad.mit.edu	37	5	71739801	71739801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:71739801C>T	ENST00000318442.5	-	5	2507	c.2017G>A	c.(2017-2019)Gga>Aga	p.G673R		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TCCCATTCTCCCTTGGATGCA	0.612000													59	116					0	0	0.003610	0	0
TDRD1	56165	broad.mit.edu	37	10	115985945	115985945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:115985945C>T	ENST00000251864.2	+	22	3298	c.3145C>T	c.(3145-3147)Cct>Tct	p.P1049S	TDRD1_ENST00000422662.1_Missense_Mutation_p.P653S|TDRD1_ENST00000369282.1_Missense_Mutation_p.P1049S|TDRD1_ENST00000369280.1_Missense_Mutation_p.P1049S|TDRD1_ENST00000369281.2_Missense_Mutation_p.P935S	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1049					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CCTGGCGCTTCCTTTCCAAAT	0.408000													5	15					0	0	0.000602	0	0
CLPS	1208	broad.mit.edu	37	6	35765011	35765011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:35765011G>A	ENST00000259938.2	-	1	77	c.55C>T	c.(55-57)Cct>Tct	p.P19S		NM_001832.3	NP_001823.1	P04118	COL_HUMAN	colipase, pancreatic	19					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region				large_intestine(2)|lung(2)|prostate(1)	5						CGGGGGCCAGGAGCTGCATAG	0.597000													9	79					0	0	0.008291	0	0
PLA2G3	50487	broad.mit.edu	37	22	31536156	31536156	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:31536156C>T	ENST00000215885.3	-	1	437	c.185G>A	c.(184-186)tGg>tAg	p.W62*		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	62					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ATGCGCATCCCAGCGGGCATG	0.637000													15	52					0	0	0.002450	0	0
TNC	3371	broad.mit.edu	37	9	117808821	117808821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:117808821C>T	ENST00000350763.4	-	17	5404	c.4993G>A	c.(4993-4995)Gaa>Aaa	p.E1665K	TNC_ENST00000423613.2_Intron|TNC_ENST00000542877.1_Missense_Mutation_p.E1302K|TNC_ENST00000340094.3_Missense_Mutation_p.E1301K|TNC_ENST00000346706.3_Missense_Mutation_p.E1119K|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.E1483K|TNC_ENST00000535648.1_Missense_Mutation_p.E1210K|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1665	Fibronectin type-III 12.				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						AGGGTTATTTCCAGTGGCTCA	0.478000													29	60					0	0	0.008361	0	0
CFHR5	81494	broad.mit.edu	37	1	196967416	196967416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:196967416C>T	ENST00000367414.5	+	7	1257	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S	CFHR5_ENST00000256785.4_Missense_Mutation_p.P377S	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	377	Sushi 7.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GAAATGGAATCCTGAAGTAGA	0.308000													6	11					0	0	0.004482	0	0
CLVS2	134829	broad.mit.edu	37	6	123369783	123369783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:123369783G>A	ENST00000275162.4	+	4	1916	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	CLVS2_ENST00000368438.1_Missense_Mutation_p.R48Q	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	194	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TTCCCAGCGCGATTTGGAGGA	0.388000													34	121					0	0	0.006230	0	0
CKAP5	9793	broad.mit.edu	37	11	46800070	46800070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:46800070C>T	ENST00000529230.1	-	21	2559	c.2513G>A	c.(2512-2514)gGa>gAa	p.G838E	CKAP5_ENST00000312055.5_Missense_Mutation_p.G838E|CKAP5_ENST00000415402.1_Missense_Mutation_p.G838E|CKAP5_ENST00000354558.3_Missense_Mutation_p.G838E			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	838					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGGTTCATCTCCATCTTCTCC	0.443000													20	31					0	0	0.010504	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858605	9858605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:9858605C>T	ENST00000396573.2	-	14	3105	c.2796G>A	c.(2794-2796)atG>atA	p.M932I	GRIN2A_ENST00000535259.1_Missense_Mutation_p.M775I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M932I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M932I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M932I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.M932I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	932					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			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)	AAACCATGTCCATGATGAGGG	0.443000													38	70					0	0	0.005524	0	0
AMER1	139285	broad.mit.edu	37	X	63410232	63410232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:63410232G>A	ENST00000330258.3	-	2	3207	c.2935C>T	c.(2935-2937)Cag>Tag	p.Q979*	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CTGTCCAACTGGTTGGGGCTT	0.562000													7	6					0	0	0.001984	0	0
PTPRB	5787	broad.mit.edu	37	12	70960357	70960357	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:70960357G>A	ENST00000334414.6	-	15	3806	c.3762C>T	c.(3760-3762)atC>atT	p.I1254I	PTPRB_ENST00000261266.5_Silent_p.I1036I|PTPRB_ENST00000550857.1_Silent_p.I946I|PTPRB_ENST00000551525.1_Silent_p.I1253I|PTPRB_ENST00000550358.1_Silent_p.I1166I|PTPRB_ENST00000538708.1_Intron|PTPRB_ENST00000451516.2_Silent_p.I946I	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1036	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGCGCAGAAGGATTCCATTTT	0.413000													16	50					0	0	0.004990	0	0
STARD4	134429	broad.mit.edu	37	5	110836693	110836693	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:110836693T>A	ENST00000502322.1	-	5	618	c.404A>T	c.(403-405)aAt>aTt	p.N135I	STARD4_ENST00000511569.1_5'UTR|STARD4_ENST00000296632.3_Intron|STARD4_ENST00000509887.1_3'UTR|STARD4_ENST00000512160.1_Intron			Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	135	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CATGTTGAGATTATTACCACA	0.348000													23	59					0	0	0.004656	0	0
IGHV3-15	28448	broad.mit.edu	37	14	106610536	106610536	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:106610536C>T	ENST00000390603.2	-	0	213																											GAAAGTGAATCCAGAGGCTGC	0.577000													21	60					0	0	0.008871	0	0
PITPNM2	57605	broad.mit.edu	37	12	123498443	123498443	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:123498443G>A	ENST00000280562.5	-	3	430	c.225C>T	c.(223-225)tcC>tcT	p.S75S	PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Silent_p.S75S|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Silent_p.S75S|PITPNM2_ENST00000546049.1_Silent_p.S75S			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	75					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGGGCAGGATGGAGCGGAACC	0.622000													16	40					0	0	0.006122	0	0
PRDM8	56978	broad.mit.edu	37	4	81123399	81123399	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:81123399C>T	ENST00000339711.4	+	10	2014	c.783C>T	c.(781-783)ttC>ttT	p.F261F	PRDM8_ENST00000415738.2_Silent_p.F261F|PRDM8_ENST00000504452.1_Silent_p.F261F	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	261	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CCACAGACTTCCACAACCTGG	0.716000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	41					0	0	0.001882	0	0
DMWD	1762	broad.mit.edu	37	19	46289693	46289693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:46289693G>A	ENST00000270223.6	-	3	1106	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	DMWD_ENST00000377735.3_Missense_Mutation_p.S354F	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	354					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CTCGGTGAAGGACCACACGGT	0.647000													19	57					0	0	0.007413	0	0
MARK2	2011	broad.mit.edu	37	11	63670575	63670575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:63670575C>T	ENST00000402010.2	+	14	2038	c.1459C>T	c.(1459-1461)Cca>Tca	p.P487S	MARK2_ENST00000350490.7_Missense_Mutation_p.P486S|MARK2_ENST00000377809.4_Missense_Mutation_p.P487S|MARK2_ENST00000425897.2_Missense_Mutation_p.P453S|MARK2_ENST00000509502.2_Missense_Mutation_p.P453S|MARK2_ENST00000361128.5_Missense_Mutation_p.P487S|MARK2_ENST00000513765.2_Missense_Mutation_p.P454S|MARK2_ENST00000502399.3_Missense_Mutation_p.P486S|MARK2_ENST00000408948.3_Missense_Mutation_p.P453S|MARK2_ENST00000315032.8_Missense_Mutation_p.P487S|MARK2_ENST00000377810.3_Missense_Mutation_p.P453S|MARK2_ENST00000508192.1_Missense_Mutation_p.P486S|MARK2_ENST00000413835.2_Missense_Mutation_p.P487S	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	487					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CAGGAATTCCCCACTTTTGGA	0.577000													26	66					0	0	0.002096	0	0
CNTD2	79935	broad.mit.edu	37	19	40732416	40732416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:40732416G>A	ENST00000430325.2	-	1	181	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S	CNTD2_ENST00000433940.1_Missense_Mutation_p.P45S	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN	cyclin N-terminal domain containing 2	45					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						AAGCCGTCGGGGACTGCGGCG	0.731000													9	16					0	0	0.008291	0	0
TBX18	9096	broad.mit.edu	37	6	85466570	85466570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:85466570G>A	ENST00000369663.5	-	4	954	c.617C>T	c.(616-618)tCg>tTg	p.S206L	TBX18_ENST00000606784.1_Missense_Mutation_p.S48L|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	206					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S206L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CATCCATTTCGAACTGTGGTA	0.488000													9	35					0	0	0.006214	0	0
PCDH18	54510	broad.mit.edu	37	4	138452734	138452734	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:138452734G>A	ENST00000344876.4	-	1	895	c.509C>T	c.(508-510)tCc>tTc	p.S170F	PCDH18_ENST00000412923.2_Missense_Mutation_p.S170F|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_5'UTR	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	170	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGTGTGGAGGGAATTTTCCCC	0.458000													9	22					0	0	0.006214	0	0
PXDNL	137902	broad.mit.edu	37	8	52384800	52384800	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:52384800G>A	ENST00000356297.4	-	8	859	c.759C>T	c.(757-759)ttC>ttT	p.F253F	PXDNL_ENST00000543296.1_Silent_p.F253F	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	253	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCCGGCAGGTGAAGTAGACGG	0.443000													29	72					0	0	0.003271	0	0
LAMA1	284217	broad.mit.edu	37	18	6975027	6975027	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:6975027G>A	ENST00000389658.3	-	46	6591	c.6498C>T	c.(6496-6498)ttC>ttT	p.F2166F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2166	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACTGCAAGGAAATCAGACT	0.537000													7	9					0	0	0.003080	0	0
ACSM2B	348158	broad.mit.edu	37	16	20565132	20565132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:20565132G>A	ENST00000329697.6	-	5	875	c.707C>T	c.(706-708)tCg>tTg	p.S236L	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.S236L|ACSM2B_ENST00000565232.1_Missense_Mutation_p.S236L|ACSM2B_ENST00000565322.1_Missense_Mutation_p.S157L	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	236					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCCCAGGCTCGAGTAGGAATG	0.507000													23	45					0	0	0.003954	0	0
HYDIN	54768	broad.mit.edu	37	16	70891771	70891771	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:70891771G>A	ENST00000393567.2	-	72	12282	c.12132C>T	c.(12130-12132)atC>atT	p.I4044I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4044										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)				ACTGGAACACGATCTAACAAG	0.478000													4	54					0	0	0.000602	0	0
SLC4A1	6521	broad.mit.edu	37	17	42327849	42327849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:42327849C>T	ENST00000262418.6	-	20	2868	c.2713G>A	c.(2713-2715)Gac>Aac	p.D905N		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	905	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCCACTTCGTCGTATTCATCC	0.597000													10	35					0	0	0.001368	0	0
MAP3K12	7786	broad.mit.edu	37	12	53879933	53879933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:53879933G>A	ENST00000267079.2	-	5	854	c.629C>T	c.(628-630)cCc>cTc	p.P210L	MAP3K12_ENST00000547488.1_Missense_Mutation_p.P243L|MAP3K12_ENST00000547035.1_Missense_Mutation_p.P243L	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	210	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CAGTAAGGAGGGGGTGACAGG	0.592000													21	41					0	0	0.003330	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249718	140249718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140249718G>A	ENST00000398640.2	+	1	1030	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACACCAACGATAACTCTCC	0.512000													11	40					0	0	0.002450	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92981769	92981769	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:92981769C>T	ENST00000268164.3	+	4	714	c.477C>T	c.(475-477)atC>atT	p.I159I	ST8SIA2_ENST00000539113.1_Silent_p.I138I	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	159					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CTTGTGCCATCGTGGGCAACT	0.577000													19	23					0	0	0.006122	0	0
TRAIP	10293	broad.mit.edu	37	3	49878425	49878425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:49878425C>T	ENST00000331456.2	-	8	811	c.698G>A	c.(697-699)aGa>aAa	p.R233K	TRAIP_ENST00000469027.1_Intron	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	233	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACCTTGCTTCTGGAGGAAAA	0.507000											OREG0015575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	75					0	0	0.008361	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24251645	24251645	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:24251645G>A	ENST00000538205.1	+	5	658	c.111G>A	c.(109-111)acG>acA	p.T37T	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.T116T|ADAMDEC1_ENST00000522298.1_Silent_p.T37T	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	116					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AAATTACCACGAAACCTGAGA	0.458000													3	14					0	0	0.004672	0	0
DNER	92737	broad.mit.edu	37	2	230282920	230282920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:230282920C>T	ENST00000341772.4	-	9	1647	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	505	EGF-like 8; calcium-binding (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCATTATATTCCTCCTCACAG	0.532000													7	33					0	0	0.003080	0	0
DMXL2	23312	broad.mit.edu	37	15	51857296	51857296	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:51857296C>T	ENST00000251076.5	-	4	640	c.353G>A	c.(352-354)tGg>tAg	p.W118*	DMXL2_ENST00000543779.2_Nonsense_Mutation_p.W118*|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.W118*|DMXL2_ENST00000560421.1_5'UTR	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	118						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTGAGGATCCCATGCTAAGTT	0.284000													3	4					0	0	0.004672	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965601	35965601	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:35965601C>A	ENST00000274278.3	-	4	1087	c.730G>T	c.(730-732)Gca>Tca	p.A244S	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A244S|UGT3A1_ENST00000333811.4_Missense_Mutation_p.A190S|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A210S	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	244						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACAACTCTGCTTTCAGTAGA	0.448000													11	30					3.07112e-06	3.14805e-06	0.000978	1	0
SLC8A3	6547	broad.mit.edu	37	14	70633621	70633621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:70633621G>A	ENST00000381269.2	-	2	2272	c.1519C>T	c.(1519-1521)Ccc>Tcc	p.P507S	SLC8A3_ENST00000357887.3_Missense_Mutation_p.P507S|SLC8A3_ENST00000356921.2_Missense_Mutation_p.P507S|SLC8A3_ENST00000528359.1_Missense_Mutation_p.P507S|SLC8A3_ENST00000534137.1_Missense_Mutation_p.P507S	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	507					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CGAGGCAAGGGAAGACTGTTG	0.493000													17	40					0	0	0.004007	0	0
LOC440040	440040	broad.mit.edu	37	11	49831758	49831758	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:49831758C>T	ENST00000527477.1	+	0	1983																											CTTCTCACCTCCTCTCAGGCC	0.433000													41	110					0	0	0.002852	0	0
IQCF3	401067	broad.mit.edu	37	3	51864793	51864793	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:51864793C>T	ENST00000456080.1	+	8	1606	c.441C>T	c.(439-441)ttC>ttT	p.F147F	IQCF3_ENST00000437810.2_Silent_p.F147F|IQCF3_ENST00000446775.1_Silent_p.F147F|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000444293.1_3'UTR|IQCF3_ENST00000440739.2_Silent_p.F147F			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	147										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCCAGAGTTCCACATTGAAA	0.488000													11	22					0	0	0.008291	0	0
DHRS12	79758	broad.mit.edu	37	13	52373720	52373720	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:52373720C>A	ENST00000218981.1	-	2	187	c.76G>T	c.(76-78)Gag>Tag	p.E26*	DHRS12_ENST00000280056.2_Nonsense_Mutation_p.E26*|DHRS12_ENST00000444610.2_Missense_Mutation_p.G47V|DHRS12_ENST00000490949.1_5'UTR	NM_024705.2	NP_078981.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	0							binding|oxidoreductase activity			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		GCTGTTTCCTCCAGTGACCAA	0.527000													36	85					1.03484e-13	1.0678e-13	0.005524	1	0
SLC13A1	6561	broad.mit.edu	37	7	122821054	122821054	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:122821054G>A	ENST00000194130.2	-	2	240	c.201C>T	c.(199-201)ccC>ccT	p.P67P	SLC13A1_ENST00000539873.1_Silent_p.P3P	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	67						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TCCCAAACATGGGTAACATTA	0.403000													9	23					0	0	0.006214	0	0
MYOM3	127294	broad.mit.edu	37	1	24417428	24417428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:24417428G>A	ENST00000330966.7	-	12	1456	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.R431W|MYOM3_ENST00000374434.3_Missense_Mutation_p.R431W			Q5VTT5	MYOM3_HUMAN	myomesin 3	431	Fibronectin type-III 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ATTGGGCACCGACAAGTCCCT	0.642000													14	55					0	0	0.008871	0	0
HIST1H2BB	3018	broad.mit.edu	37	6	26043697	26043697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:26043697C>T	ENST00000357905.2	-	1	188	c.189G>A	c.(187-189)atG>atA	p.M63I		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	63					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CGAAGGAATTCATGATCCCCA	0.552000													33	130					0	0	0.002836	0	0
TNFSF8	944	broad.mit.edu	37	9	117680408	117680408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:117680408G>A	ENST00000223795.2	-	2	319	c.206C>T	c.(205-207)cCc>cTc	p.P69L		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	69					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						AGGTGAGTTGGGAATGGAGTC	0.373000													3	12					0	0	0.000602	0	0
MON1A	84315	broad.mit.edu	37	3	49947860	49947860	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:49947860G>A	ENST00000417270.1	-	5	1788	c.1095C>T	c.(1093-1095)tcC>tcT	p.S365S	MON1A_ENST00000455683.2_Silent_p.S292S|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Silent_p.S454S			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	357							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)		CCTCGCGAAAGGACGAGGAGG	0.602000													15	19					0	0	0.004007	0	0
KRT83	3889	broad.mit.edu	37	12	52715014	52715014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:52715014G>A	ENST00000293670.3	-	1	168	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	36	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCGCGGTAGGGGGCGGCGGTG	0.701000													17	47					0	0	0.010504	0	0
ANGPT4	51378	broad.mit.edu	37	20	854937	854937	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:854937C>T	ENST00000381922.3	-	8	1443	c.1341G>A	c.(1339-1341)gtG>gtA	p.V447V	ANGPT4_ENST00000546022.1_Intron	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	447	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTCCAGACATCACTTGGGCAC	0.617000													22	40					0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179582050	179582050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179582050C>T	ENST00000589042.1	-	88	25635	c.25411G>A	c.(25411-25413)Gaa>Aaa	p.E8471K	TTN_ENST00000342992.6_Missense_Mutation_p.E7227K|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E8154K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8154	Ig-like 67.						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)			GTACCACTTTCTCCAAGAGCA	0.408000													15	33					0	0	0.002450	0	0
DSG4	147409	broad.mit.edu	37	18	28970666	28970666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:28970666C>T	ENST00000359747.4	+	6	594	c.565C>T	c.(565-567)Cat>Tat	p.H189Y	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.H189Y	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	189	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGAAGAAAATCATCTGAATTC	0.408000													14	22					0	0	0.001855	0	0
VWA8	23078	broad.mit.edu	37	13	42393512	42393512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:42393512G>A	ENST00000379310.3	-	15	1779	c.1711C>T	c.(1711-1713)Cct>Tct	p.P571S	VWA8_ENST00000281496.6_Missense_Mutation_p.P571S	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GGATGGATAGGAAAAATGGAT	0.388000													8	21					0	0	0.003080	0	0
MSH4	4438	broad.mit.edu	37	1	76378534	76378534	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:76378534C>T	ENST00000263187.3	+	20	2877	c.2773C>T	c.(2773-2775)Ccc>Tcc	p.P925S		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	925					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AGAAGATTTTCCCAGGACTGA	0.328000								Mismatch excision repair (MMR)					10	11					0	0	0.001855	0	0
FAM47A	158724	broad.mit.edu	37	X	34149014	34149014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:34149014G>A	ENST00000346193.3	-	1	1433	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	461										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCCACAAGGGGATTTATGAGG	0.582000													19	11					0	0	0.010504	0	0
COL4A1	1282	broad.mit.edu	37	13	110827028	110827028	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:110827028G>A	ENST00000375820.4	-	38	3388	c.3267C>T	c.(3265-3267)atC>atT	p.I1089I		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1089	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCATTCCTGGGATCCCAATGC	0.527000													47	99					0	0	0.003610	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025448	16025448	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:16025448C>T	ENST00000402119.3	-	10	1704	c.1278G>A	c.(1276-1278)ggG>ggA	p.G426G	CYP4F11_ENST00000326742.7_Intron|CYP4F11_ENST00000248041.7_Silent_p.G426G	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	426					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGTAATGGATCCCGATAATAT	0.572000													28	41					0	0	0.009535	0	0
MUC16	94025	broad.mit.edu	37	19	9072184	9072184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9072184C>T	ENST00000397910.4	-	3	15465	c.15262G>A	c.(15262-15264)Gaa>Aaa	p.E5088K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5090	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						GTCACAGGTTCCAAGCGTGTA	0.423000													33	89					0	0	0.004878	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24251642	24251642	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:24251642C>T	ENST00000538205.1	+	5	655	c.108C>T	c.(106-108)acC>acT	p.T36T	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.T115T|ADAMDEC1_ENST00000522298.1_Silent_p.T36T	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	115					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGGAAATTACCACGAAACCTG	0.458000													5	14					0	0	0.000602	0	0
SLIT2	9353	broad.mit.edu	37	4	20525485	20525485	+	Silent	SNP	C	C	T	rs145340436		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:20525485C>T	ENST00000504154.1	+	13	1485	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	SLIT2_ENST00000273739.5_Silent_p.I415I|SLIT2_ENST00000503837.1_Silent_p.I415I|SLIT2_ENST00000503823.1_Silent_p.I411I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	411					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTCAGACCATCGCCAAGGGGA	0.418000													25	50					0	0	0.004656	0	0
NOTCH4	4855	broad.mit.edu	37	6	32187388	32187388	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:32187388G>A	ENST00000375023.3	-	8	1629	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	497	EGF-like 12; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGAGGCAGTGGAAGGTGGCAA	0.602000													59	222					0	0	0.003610	0	0
ABLIM3	22885	broad.mit.edu	37	5	148630942	148630942	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:148630942C>T	ENST00000506113.1	+	20	2291	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	ABLIM3_ENST00000326685.7_Silent_p.F508F|ABLIM3_ENST00000504238.1_Silent_p.F492F|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000356541.3_Silent_p.F492F|ABLIM3_ENST00000309868.7_Silent_p.F603F|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000508983.1_Silent_p.F570F|ABLIM3_ENST00000517451.1_Silent_p.F89F			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	603					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACCTCTTCCACTACGACA	0.582000													12	16					0	0	0.002450	0	0
SCN2A	6326	broad.mit.edu	37	2	166210824	166210824	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:166210824C>T	ENST00000375437.2	+	17	3332	c.3042C>T	c.(3040-3042)atC>atT	p.I1014I	SCN2A_ENST00000375427.2_Silent_p.I1014I|SCN2A_ENST00000283256.6_Silent_p.I1014I|SCN2A_ENST00000357398.3_Silent_p.I1014I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1014					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)	AGAAAGGAATCGATTTTGTTA	0.348000													24	46					0	0	0.002780	0	0
USH2A	7399	broad.mit.edu	37	1	215844436	215844436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:215844436C>T	ENST00000366943.2	-	64	14397	c.14011G>A	c.(14011-14013)Gaa>Aaa	p.E4671K	USH2A_ENST00000307340.3_Missense_Mutation_p.E4671K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4671	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGTATAATTCGTAATACAAA	0.418000										HNSCC(13;0.011)			16	59					0	0	0.003163	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439502	145439502	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:145439502C>T	ENST00000511217.1	+	8	1681	c.1629C>T	c.(1627-1629)acC>acT	p.T543T	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.T543T			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	543							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGCCCCACCATGGTCCTTC	0.617000													17	34					0	0	0.004990	0	0
SLAMF7	57823	broad.mit.edu	37	1	160720162	160720162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:160720162C>T	ENST00000368043.3	+	4	755	c.718C>T	c.(718-720)Ctc>Ttc	p.L240F	SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000359331.4_Missense_Mutation_p.L240F|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000368042.3_Missense_Mutation_p.L133F|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000444090.2_Intron	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	240					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCTGCTCAGTCTCTTTGTACT	0.502000													44	99					0	0	0.003610	0	0
SORCS3	22986	broad.mit.edu	37	10	106924109	106924109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:106924109C>T	ENST00000369701.3	+	12	2008	c.1781C>T	c.(1780-1782)tCc>tTc	p.S594F		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	594						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGTTCATCTCCTCCGATGGG	0.438000													12	18					0	0	0.001855	0	0
TM4SF18	116441	broad.mit.edu	37	3	149040220	149040220	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:149040220G>A	ENST00000296059.2	-	5	679	c.414C>T	c.(412-414)ttC>ttT	p.F138F	TM4SF18_ENST00000470080.1_Silent_p.F138F|RP11-206M11.7_ENST00000489011.1_RNA	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	138						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AATCTGTAAGGAAACTGAGAG	0.393000													8	16					0	0	0.000978	0	0
OR4K13	390433	broad.mit.edu	37	14	20502263	20502263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:20502263C>T	ENST00000315693.2	-	1	656	c.655G>A	c.(655-657)Gga>Aga	p.G219R		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	219					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)		ATTATGACTCCATAGGAGACA	0.493000													18	34					0	0	0.001882	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183090	102183090	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:102183090C>T	ENST00000306176.1	+	7	904	c.804C>T	c.(802-804)ttC>ttT	p.F268F	ZPLD1_ENST00000491959.1_Silent_p.F252F|ZPLD1_ENST00000466937.1_Silent_p.F252F	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	252	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATGATCTTTTCCTTAGGTAAG	0.313000													14	36					0	0	0.001855	0	0
PCDH18	54510	broad.mit.edu	37	4	138451647	138451647	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:138451647G>A	ENST00000344876.4	-	1	1982	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	PCDH18_ENST00000412923.2_Silent_p.I532I|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Silent_p.I312I	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	532	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CATGATCAAAGATTCTGAGGG	0.423000													22	61					0	0	0.003330	0	0
DLG4	1742	broad.mit.edu	37	17	7106568	7106568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:7106568C>T	ENST00000399510.2	-	9	1567	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	DLG4_ENST00000485100.1_Missense_Mutation_p.E193K|DLG4_ENST00000302955.6_Missense_Mutation_p.E193K|DLG4_ENST00000399506.2_Missense_Mutation_p.E196K	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	196	PDZ 2.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GCACCCCCTTCGATGATCTTT	0.547000													4	17					0	0	0.001168	0	0
TCEA2	6919	broad.mit.edu	37	20	62699406	62699406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:62699406C>T	ENST00000395053.3	+	4	403	c.248C>T	c.(247-249)tCc>tTc	p.S83F	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Missense_Mutation_p.S83F|TCEA2_ENST00000361317.2_Missense_Mutation_p.S56F			Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	83	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GCAGATGCTTCCGATGCCAAA	0.647000													11	33					0	0	0.001855	0	0
DOCK6	57572	broad.mit.edu	37	19	11333778	11333778	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:11333778A>G	ENST00000294618.7	-	25	2971	c.2960T>C	c.(2959-2961)gTg>gCg	p.V987A	DOCK6_ENST00000319867.7_Missense_Mutation_p.V326A	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	987					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGCCAGCTCCACATCCTGGGG	0.627000													9	25					0	0	0.006214	0	0
HERC2	8924	broad.mit.edu	37	15	28414666	28414666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:28414666G>A	ENST00000261609.7	-	66	10301	c.10193C>T	c.(10192-10194)tCa>tTa	p.S3398L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3398					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGAATATGTGATAAGGCCTG	0.373000													13	10					0	0	0.001855	0	0
GLRB	2743	broad.mit.edu	37	4	157999189	157999189	+	Silent	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:157999189T>C	ENST00000264428.4	+	2	283	c.13T>C	c.(13-15)Ttg>Ctg	p.L5L	GLRB_ENST00000509282.1_Silent_p.L5L|GLRB_ENST00000512619.1_Silent_p.L5L|GLRB_ENST00000541722.1_Silent_p.L5L	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	5					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GAAGTTTTTATTGACAACTGC	0.318000													7	10					0	0	0.001984	0	0
KCNA6	3742	broad.mit.edu	37	12	4920731	4920731	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:4920731G>A	ENST00000433855.1	+	1	2390	c.1524G>A	c.(1522-1524)cgG>cgA	p.R508R	KCNA6_ENST00000280684.3_Silent_p.R508R	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	508						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						ACCGGGAACGGAGACCCAGCT	0.612000										HNSCC(72;0.22)			20	44					0	0	0.010504	0	0
HLA-B	3106	broad.mit.edu	37	6	31323234	31323234	+	Missense_Mutation	SNP	G	G	A	rs41557013		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:31323234G>A	ENST00000412585.2	-	4	783	c.755C>T	c.(754-756)aCt>aTt	p.T252I		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CACAAGCTCAGTGTCCTGAGT	0.577000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				13	66					0	0	0.002450	0	0
MYOM2	9172	broad.mit.edu	37	8	2063855	2063855	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:2063855G>A	ENST00000262113.4	+	26	3425	c.3284G>A	c.(3283-3285)gGg>gAg	p.G1095E	MYOM2_ENST00000523438.1_Missense_Mutation_p.G520E	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1095					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATTCATGATGGGAAAGCCAAA	0.358000													10	26					0	0	0.006214	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3679916	3679916	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:3679916G>A	ENST00000344754.4	-	7	1718	c.1719C>T	c.(1717-1719)taC>taT	p.Y573Y	SIGLEC1_ENST00000202578.4_Silent_p.Y573Y	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	573	Ig-like C2-type 5.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCCGGCAGTGGTATGAGCCGG	0.677000													8	10					0	0	0.004482	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481765	140481765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140481765G>A	ENST00000231130.2	+	1	1532	c.1532G>A	c.(1531-1533)gGc>gAc	p.G511D	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		511	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGACAACGGCCACCTGTTT	0.667000													25	56					0	0	0.005443	0	0
TRPV4	59341	broad.mit.edu	37	12	110246249	110246249	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:110246249G>A	ENST00000418703.2	-	2	505	c.411C>T	c.(409-411)gcC>gcT	p.A137A	TRPV4_ENST00000536838.1_Silent_p.A103A|TRPV4_ENST00000392719.2_Silent_p.A137A|TRPV4_ENST00000537083.1_Silent_p.A137A|TRPV4_ENST00000346520.2_Silent_p.A137A|TRPV4_ENST00000261740.2_Silent_p.A137A|TRPV4_ENST00000544971.1_Silent_p.A137A|TRPV4_ENST00000541794.1_Silent_p.A137A	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	137					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GAGGGGCAGGGGCTTTGGGGC	0.657000													6	23					0	0	0.001168	0	0
MXRA5	25878	broad.mit.edu	37	X	3241350	3241350	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:3241350C>T	ENST00000217939.6	-	5	2530	c.2376G>A	c.(2374-2376)ggG>ggA	p.G792G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	792						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGAGATTTTTCCCACGGACTT	0.453000													30	16					0	0	0.009535	0	0
CSDC2	27254	broad.mit.edu	37	22	41968137	41968137	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:41968137C>T	ENST00000306149.7	+	2	712	c.168C>T	c.(166-168)acC>acT	p.T56T		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	56					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding			prostate(2)|upper_aerodigestive_tract(1)	3						GGACCAGGACCTATTCAGCGT	0.652000													4	8					0	0	0.001168	0	0
THOC5	8563	broad.mit.edu	37	22	29940511	29940511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:29940511G>A	ENST00000490103.1	-	3	300	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	THOC5_ENST00000397873.2_Nonsense_Mutation_p.Q60*|THOC5_ENST00000397871.1_Nonsense_Mutation_p.Q60*|THOC5_ENST00000397872.1_Nonsense_Mutation_p.Q60*	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	60	Interaction with CSF1R (By similarity).|Interaction with THOC7.				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTAGCTCCTGGCAGGTGTAC	0.542000													40	65					0	0	0.006230	0	0
PAN2	9924	broad.mit.edu	37	12	56717878	56717878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:56717878C>T	ENST00000425394.2	-	13	2396	c.2020G>A	c.(2020-2022)Gtg>Atg	p.V674M	PAN2_ENST00000440411.3_Missense_Mutation_p.V674M|PAN2_ENST00000257931.5_Missense_Mutation_p.V673M|PAN2_ENST00000548043.1_Missense_Mutation_p.V674M	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	674					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGGCTCGCACGGTCTCACTG	0.537000													29	59					0	0	0.006320	0	0
PTPN5	84867	broad.mit.edu	37	11	18754168	18754168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:18754168C>T	ENST00000396170.1	-	12	2468	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	PTPN5_ENST00000396168.1_Missense_Mutation_p.D410N|PTPN5_ENST00000396171.4_Missense_Mutation_p.D434N|PTPN5_ENST00000477854.1_Missense_Mutation_p.D238N|PTPN5_ENST00000358540.2_Missense_Mutation_p.D434N|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396167.2_Missense_Mutation_p.D402N	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	434	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						AGCCGGTAATCCTCCGTGTGA	0.587000											OREG0020824	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	92					0	0	0.003214	0	0
APOB	338	broad.mit.edu	37	2	21234537	21234537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:21234537C>T	ENST00000233242.1	-	26	5330	c.5203G>A	c.(5203-5205)Gga>Aga	p.G1735R		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1735					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGCTTAAGTCCTTCTTGACTG	0.443000													211	392					0	0	0.003610	0	0
CFH	3075	broad.mit.edu	37	1	196706689	196706689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:196706689G>A	ENST00000367429.4	+	17	2921	c.2681G>A	c.(2680-2682)gGg>gAg	p.G894E		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	894	Sushi 15.				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						TATGCACATGGGACTAAATTG	0.378000													9	20					0	0	0.006214	0	0
MAP3K5	4217	broad.mit.edu	37	6	136888793	136888793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:136888793C>T	ENST00000359015.4	-	26	4097	c.3737G>A	c.(3736-3738)gGa>gAa	p.G1246E	MAP3K5_ENST00000355845.4_Missense_Mutation_p.G493E	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1246					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTTCATCCTTCCAAGCTGTAC	0.438000													5	17					0	0	0.001168	0	0
CANT1	124583	broad.mit.edu	37	17	76993521	76993521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:76993521G>A	ENST00000302345.2	-	2	678	c.184C>T	c.(184-186)Cac>Tac	p.H62Y	CANT1_ENST00000591773.1_Missense_Mutation_p.H62Y|CANT1_ENST00000392446.5_Missense_Mutation_p.H62Y	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	62					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GCCGGGCGGTGGGAGCAGAGC	0.687000			T	ETV4	prostate								30	21					0	0	0.007291	0	0
MAEL	84944	broad.mit.edu	37	1	166958989	166958989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:166958989G>A	ENST00000367872.4	+	2	392	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	MAEL_ENST00000367870.2_Intron	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	50					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GAGGGAGGAAGAAAAGGAGAA	0.547000													10	25					0	0	0.006214	0	0
DCX	1641	broad.mit.edu	37	X	110544926	110544926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:110544926C>T	ENST00000338081.3	-	7	1486	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	DCX_ENST00000488120.1_Missense_Mutation_p.D358N|DCX_ENST00000356220.3_Missense_Mutation_p.D363N|DCX_ENST00000356915.2_Missense_Mutation_p.D363N|DCX_ENST00000371993.2_Missense_Mutation_p.D358N	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	439					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TACATGGAATCACCAAGCGAG	0.448000													26	18					0	0	0.002096	0	0
STAU2	27067	broad.mit.edu	37	8	74495023	74495023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:74495023G>A	ENST00000355780.5	-	11	1326	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	STAU2_ENST00000522509.1_Missense_Mutation_p.P370S|STAU2_ENST00000519961.1_Missense_Mutation_p.P402S|STAU2_ENST00000521727.1_Missense_Mutation_p.P382S|STAU2_ENST00000517542.1_Missense_Mutation_p.P364S|STAU2_ENST00000522695.1_Missense_Mutation_p.P370S|STAU2_ENST00000524300.1_Missense_Mutation_p.P402S|STAU2_ENST00000523558.1_Missense_Mutation_p.P230S|STAU2_ENST00000521451.1_Missense_Mutation_p.P182S|STAU2_ENST00000521210.1_Missense_Mutation_p.P298S	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	402	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GTTGGTTCAGGAAACCCAGGC	0.398000													13	31					0	0	0.003163	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117776419	117776419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:117776419C>T	ENST00000528626.1	-	9	1283	c.1210G>A	c.(1210-1212)Gga>Aga	p.G404R	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.G439R|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.G439R|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.G439R	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	434	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		AAGGTCTGTCCATGCATGGGG	0.527000													4	6					0	0	0.000602	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993481	140993481	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:140993481G>A	ENST00000285879.4	+	4	577	c.291G>A	c.(289-291)caG>caA	p.Q97Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	97							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTCCAGAATTCTCAGA	0.572000										HNSCC(15;0.026)			42	15					0	0	0.008740	0	0
PASD1	139135	broad.mit.edu	37	X	150832599	150832599	+	Silent	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:150832599T>C	ENST00000370357.4	+	11	1095	c.850T>C	c.(850-852)Ttg>Ctg	p.L284L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	284						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCTTATCCTTGCAAGACTT	0.478000													15	20					0	0	0.004007	0	0
CYP7B1	9420	broad.mit.edu	37	8	65537059	65537059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:65537059G>A	ENST00000310193.3	-	2	333	c.160C>T	c.(160-162)Cct>Tct	p.P54S		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	54					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CCAAGATAAGGAAGCCAACCT	0.378000													17	61					0	0	0.008871	0	0
MME	4311	broad.mit.edu	37	3	154886527	154886527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:154886527G>A	ENST00000460393.1	+	20	2041	c.1921G>A	c.(1921-1923)Gga>Aga	p.G641R	MME_ENST00000462745.1_Missense_Mutation_p.G641R|MME_ENST00000492661.1_Missense_Mutation_p.G641R|MME_ENST00000493237.1_Missense_Mutation_p.G641R|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Missense_Mutation_p.G641R	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	641					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ACAGCTTAATGGAATTAATAC	0.299000													11	25					0	0	0.002450	0	0
ASB2	51676	broad.mit.edu	37	14	94420818	94420818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:94420818G>A	ENST00000555019.1	-	4	753	c.323C>T	c.(322-324)cCc>cTc	p.P108L	ASB2_ENST00000315988.4_Missense_Mutation_p.P60L|ASB2_ENST00000556337.1_Intron	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	60					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CTTTATCAAGGGGTCCGCAGG	0.597000													19	56					0	0	0.001882	0	0
WRNIP1	56897	broad.mit.edu	37	6	2783763	2783763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:2783763G>A	ENST00000380769.4	+	5	1181	c.950G>A	c.(949-951)cGg>cAg	p.R317Q	WRNIP1_ENST00000380773.4_Missense_Mutation_p.R537Q|WRNIP1_ENST00000380764.1_Missense_Mutation_p.R153Q|WRNIP1_ENST00000380771.4_Missense_Mutation_p.R512Q			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	537					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	p.R537L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TACGTGGCACGGAGGCTTGTC	0.602000													5	25					0	0	0.000602	0	0
TAS2R8	50836	broad.mit.edu	37	12	10959158	10959158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:10959158G>A	ENST00000240615.2	-	1	734	c.422C>T	c.(421-423)tCc>tTc	p.S141F		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	141					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GACCAACAAGGAAATGGCAAA	0.408000													5	16					0	0	0.001168	0	0
USP1	7398	broad.mit.edu	37	1	62911009	62911009	+	Silent	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:62911009A>G	ENST00000339950.4	+	6	1973	c.1158A>G	c.(1156-1158)gaA>gaG	p.E386E	USP1_ENST00000371146.1_Silent_p.E386E	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	386					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GGAAGTGTGAAAGTGATAACA	0.348000													6	20					0	0	0.001168	0	0
LAMA1	284217	broad.mit.edu	37	18	7024447	7024447	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:7024447G>A	ENST00000389658.3	-	18	2514	c.2421C>T	c.(2419-2421)caC>caT	p.H807H		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	807	Laminin EGF-like 7.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATCATTGAGGTGGCAGGTGG	0.433000													3	17					0	0	0.009096	0	0
TBP	6908	broad.mit.edu	37	6	170873644	170873644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:170873644C>T	ENST00000392092.2	+	4	788	c.509C>T	c.(508-510)tCc>tTc	p.S170F	TBP_ENST00000230354.6_Missense_Mutation_p.S170F|TBP_ENST00000540980.1_Missense_Mutation_p.S150F	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	170					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		AATATTGTATCCACAGTGAAT	0.333000													4	24					0	0	0.009096	0	0
FDXR	2232	broad.mit.edu	37	17	72862360	72862360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:72862360C>T	ENST00000455107.2	-	6	684	c.268G>A	c.(268-270)Ggg>Agg	p.G90R	FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000582944.1_Missense_Mutation_p.G126R|FDXR_ENST00000442102.2_Missense_Mutation_p.G177R|FDXR_ENST00000420580.2_Missense_Mutation_p.G94R|FDXR_ENST00000581530.1_Missense_Mutation_p.G134R|FDXR_ENST00000583917.1_Missense_Mutation_p.G135R|FDXR_ENST00000413947.2_Missense_Mutation_p.G165R|FDXR_ENST00000293195.5_Missense_Mutation_p.G134R|FDXR_ENST00000544854.1_Missense_Mutation_p.G82R			P22570	ADRO_HUMAN	ferredoxin reductase	134					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					TCCTCTGCCCCGTAGCTCTGA	0.657000													17	28					0	0	0.004007	0	0
ASB5	140458	broad.mit.edu	37	4	177138124	177138124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:177138124G>A	ENST00000296525.3	-	6	820	c.707C>T	c.(706-708)cCa>cTa	p.P236L	ASB5_ENST00000512254.1_Missense_Mutation_p.P183L	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	236					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AGCATGTAATGGAGTATCCCA	0.388000													24	66					0	0	0.003330	0	0
NKAIN2	154215	broad.mit.edu	37	6	125112496	125112496	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:125112496C>T	ENST00000368417.1	+	5	546	c.486C>T	c.(484-486)ttC>ttT	p.F162F	NKAIN2_ENST00000545433.1_Silent_p.F147F|NKAIN2_ENST00000546092.1_Silent_p.F95F	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	162						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TGGCAGGTTTCATCTACGCCT	0.403000													10	25					0	0	0.008291	0	0
NARG2	79664	broad.mit.edu	37	15	60758794	60758794	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:60758794T>C	ENST00000261520.4	-	5	761	c.528_splice	c.e5+1	p.E176_splice	NARG2_ENST00000561114.1_Splice_Site_p.E176_splice|NARG2_ENST00000439632.1_Splice_Site_p.E39_splice	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	176						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TTTTTTTACCTCTGTGAAGAG	0.378000													12	28					0	0	0.001855	0	0
ADAM2	2515	broad.mit.edu	37	8	39691492	39691492	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:39691492C>T	ENST00000265708.4	-	3	262	c.159G>A	c.(157-159)ggG>ggA	p.G53G	ADAM2_ENST00000347580.4_Silent_p.G53G|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000521880.1_Silent_p.G53G|ADAM2_ENST00000379853.2_Silent_p.G53G	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	53					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)		TATATGGTTTCCCTTCAATTA	0.289000													5	18					0	0	0.000602	0	0
NFS1	9054	broad.mit.edu	37	20	34257606	34257606	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:34257606G>A	ENST00000374092.4	-	13	1382	c.1310_splice	c.e13-1	p.P438_splice	NFS1_ENST00000498084.1_5'UTR|NFS1_ENST00000397425.1_Splice_Site_p.P378_splice|NFS1_ENST00000540053.1_Splice_Site_p.P236_splice|NFS1_ENST00000374085.1_Splice_Site_p.P378_splice|NFS1_ENST00000541387.1_Splice_Site_p.P387_splice	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	438					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TCCCAGAGAGGGCTGCCAAAG	0.532000													16	54					0	0	0.006122	0	0
BARX2	8538	broad.mit.edu	37	11	129306737	129306737	+	Silent	SNP	C	C	T	rs149011396	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:129306737C>T	ENST00000281437.4	+	2	375	c.279C>T	c.(277-279)atC>atT	p.I93I	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	93										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCCCGGGAATCGCCCAGGCAC	0.677000													22	53					0	0	0.002780	0	0
MROH2B	133558	broad.mit.edu	37	5	41061813	41061813	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:41061813G>A	ENST00000399564.4	-	6	924	c.474C>T	c.(472-474)ttC>ttT	p.F158F		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TGGCTTTGCTGAATTTCTCAA	0.418000													6	25					0	0	0.001168	0	0
OPRK1	4986	broad.mit.edu	37	8	54141901	54141901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:54141901G>A	ENST00000265572.3	-	4	1396	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	OPRK1_ENST00000520287.1_Missense_Mutation_p.P367S|OPRK1_ENST00000524278.1_Missense_Mutation_p.P278S|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	367					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGGTAAGCAGGATCCTGAACT	0.478000													11	44					0	0	0.000978	0	0
AMN	81693	broad.mit.edu	37	14	103395162	103395162	+	Silent	SNP	G	G	A	rs141455061	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:103395162G>A	ENST00000299155.5	+	5	396	c.363G>A	c.(361-363)ggG>ggA	p.G121G		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	121					lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCGCTCTGGGGACGAGGCAC	0.677000													8	22					0	0	0.004482	0	0
SUSD2	56241	broad.mit.edu	37	22	24583630	24583630	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:24583630C>T	ENST00000358321.3	+	12	2244	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	661	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ACCCCACCTTCGAGCCCCTCT	0.572000													16	38					0	0	0.007413	0	0
ILDR2	387597	broad.mit.edu	37	1	166904701	166904701	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:166904701C>T	ENST00000271417.3	-	6	772	c.717G>A	c.(715-717)ggG>ggA	p.G239G	ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000469934.2_Silent_p.G239G|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Silent_p.G220G	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	239						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TTGCTGCTTTCCCTGCTTCAT	0.582000													7	19					0	0	0.003080	0	0
OTOR	56914	broad.mit.edu	37	20	16730641	16730641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:16730641G>A	ENST00000246081.2	+	3	393	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	OTOR_ENST00000486129.1_3'UTR	NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	117					sensory perception of sound	extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						AGCTACCAAGGAAGTTCCCAC	0.488000													8	18					0	0	0.003080	0	0
FUT9	10690	broad.mit.edu	37	6	96651677	96651677	+	Missense_Mutation	SNP	C	C	T	rs146949446		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:96651677C>T	ENST00000302103.5	+	3	972	c.646C>T	c.(646-648)Cat>Tat	p.H216Y		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	216					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)		CATTGAAATCCATACCTACGG	0.373000													10	27					0	0	0.006214	0	0
SNAP91	9892	broad.mit.edu	37	6	84303377	84303377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:84303377G>A	ENST00000428679.2	-	18	2109	c.1516C>T	c.(1516-1518)Cct>Tct	p.P506S	SNAP91_ENST00000521743.1_Missense_Mutation_p.P506S|SNAP91_ENST00000521485.1_Missense_Mutation_p.P506S|SNAP91_ENST00000369694.2_Missense_Mutation_p.P506S|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000439399.2_Missense_Mutation_p.P506S|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520302.1_Missense_Mutation_p.P504S|SNAP91_ENST00000195649.6_Missense_Mutation_p.P506S			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	506	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)		GTAACTACAGGAACACTGGTC	0.572000													6	29					0	0	0.001168	0	0
THSD7B	80731	broad.mit.edu	37	2	137988647	137988647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:137988647C>T	ENST00000409968.1	+	8	1935	c.1757C>T	c.(1756-1758)cCc>cTc	p.P586L	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.P555L|THSD7B_ENST00000272643.3_Missense_Mutation_p.P586L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGCCCAGTTCCCCCTCCTCCT	0.473000													13	29					0	0	0.002450	0	0
NDST3	9348	broad.mit.edu	37	4	119161732	119161732	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:119161732G>A	ENST00000296499.5	+	11	2575	c.2172G>A	c.(2170-2172)gtG>gtA	p.V724V		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	724	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TCTACGAAGTGATCTCAGCAG	0.502000													16	24					0	0	0.004990	0	0
TRHDE	29953	broad.mit.edu	37	12	73012798	73012798	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:73012798G>A	ENST00000261180.4	+	13	2410	c.2314G>A	c.(2314-2316)Gaa>Aaa	p.E772K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	772					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						GGACCGCATGGAAAACTACAA	0.333000													6	28					0	0	0.003080	0	0
SELP	6403	broad.mit.edu	37	1	169564075	169564075	+	Silent	SNP	C	C	T	rs138760541	by1000genomes	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:169564075C>T	ENST00000263686.6	-	13	2179	c.2142G>A	c.(2140-2142)gcG>gcA	p.A714A	SELP_ENST00000367793.2_Silent_p.A652A|SELP_ENST00000367794.2_Silent_p.A652A|SELP_ENST00000458599.2_Silent_p.A530A|SELP_ENST00000367786.2_Silent_p.A652A|SELP_ENST00000367788.2_Silent_p.A652A|SELP_ENST00000367791.2_Silent_p.A528A|SELP_ENST00000367792.2_Silent_p.A530A	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	714	Sushi 9.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	AGCAGTTCATCGCTATTGGCT	0.408000													10	23					0	0	0.000978	0	0
OR4X2	119764	broad.mit.edu	37	11	48267098	48267098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:48267098C>T	ENST00000302329.3	+	1	491	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TTCATGCATTCCTTTGCACAA	0.498000													33	75					0	0	0.003271	0	0
CDH20	28316	broad.mit.edu	37	18	59221606	59221606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:59221606C>T	ENST00000262717.4	+	12	2482	c.2084C>T	c.(2083-2085)cCc>cTc	p.P695L	CDH20_ENST00000538374.1_Missense_Mutation_p.P695L|CDH20_ENST00000536675.2_Missense_Mutation_p.P695L			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	695					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GGGGCCGCCCCCAAGACGCGG	0.697000													9	37					0	0	0.006214	0	0
KCNH6	81033	broad.mit.edu	37	17	61620959	61620959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:61620959C>T	ENST00000583023.1	+	10	2182	c.2171C>T	c.(2170-2172)tCc>tTc	p.S724F	KCNH6_ENST00000314672.5_Missense_Mutation_p.S724F|KCNH6_ENST00000581784.1_Missense_Mutation_p.S671F|KCNH6_ENST00000456941.2_Missense_Mutation_p.S671F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	724					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CTCCACTCATCCCCCCGACAG	0.597000													18	88					0	0	0.007413	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11864800	11864800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:11864800G>A	ENST00000396516.2	-	9	1144	c.947C>T	c.(946-948)tCt>tTt	p.S316F	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.S316F			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	316						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CATGCTAGGAGAGACACTGGC	0.483000													23	53					0	0	0.003330	0	0
EYA4	2070	broad.mit.edu	37	6	133789771	133789771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:133789771G>A	ENST00000367895.5	+	11	1336	c.872G>A	c.(871-873)gGa>gAa	p.G291E	EYA4_ENST00000531901.1_Missense_Mutation_p.G291E|EYA4_ENST00000525849.1_Missense_Mutation_p.G268E|EYA4_ENST00000430974.2_Missense_Mutation_p.G237E|EYA4_ENST00000355167.3_Missense_Mutation_p.G291E|EYA4_ENST00000431403.2_Missense_Mutation_p.G291E|EYA4_ENST00000355286.6_Missense_Mutation_p.G268E|EYA4_ENST00000452339.2_Missense_Mutation_p.G237E	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	291					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TCAACGTATGGAGCGTATATG	0.428000													21	68					0	0	0.010504	0	0
SREK1	140890	broad.mit.edu	37	5	65470862	65470862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:65470862C>T	ENST00000334121.6	+	10	1732	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S	SREK1_ENST00000380918.3_Missense_Mutation_p.P409S|SREK1_ENST00000284041.3_3'UTR	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	409					mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						ATCTCCGTCCCCCAGGAGGTA	0.363000													9	13					0	0	0.006214	0	0
COL4A3	1285	broad.mit.edu	37	2	228137771	228137771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:228137771G>A	ENST00000396578.3	+	26	2027	c.1865G>A	c.(1864-1866)gGa>gAa	p.G622E	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	622	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	p.G622E(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGACCCCAAGGAGAACCTGGT	0.622000													11	35					0	0	0.008291	0	0
ME1	4199	broad.mit.edu	37	6	84117513	84117513	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:84117513G>A	ENST00000369705.3	-	2	302	c.186C>T	c.(184-186)ttC>ttT	p.F62F	ME1_ENST00000541327.1_Intron|ME1_ENST00000543031.1_Intron	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	62					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			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)	TCAGATGCTCGAAATTTTTTA	0.383000													23	50					0	0	0.002780	0	0
NRXN1	9378	broad.mit.edu	37	2	50779811	50779811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:50779811G>A	ENST00000404971.1	-	10	3132	c.1793C>T	c.(1792-1794)tCa>tTa	p.S598L	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.S558L|NRXN1_ENST00000402717.3_Missense_Mutation_p.S550L|NRXN1_ENST00000406859.3_Missense_Mutation_p.S558L|NRXN1_ENST00000405472.3_Missense_Mutation_p.S550L|NRXN1_ENST00000406316.2_Missense_Mutation_p.S558L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	558	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TATAGTACCTGACCCCATGTC	0.443000													20	55					0	0	0.007413	0	0
PRAM1	84106	broad.mit.edu	37	19	8563972	8563972	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:8563972G>A	ENST00000423345.4	-	2	1240	c.720C>T	c.(718-720)tcC>tcT	p.S240S	PRAM1_ENST00000255612.3_Silent_p.S240S			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	288	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GCTGCGGCACGGACTTCTTAG	0.612000													12	39					0	0	0.000978	0	0
UGT2B11	10720	broad.mit.edu	37	4	70071286	70071286	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:70071286C>T	ENST00000446444.1	-	4	1011		c.e4-1		RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11						estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCCACAGAACCTGTTACAGTA	0.398000													14	42					0	0	0.001855	0	0
UBR4	23352	broad.mit.edu	37	1	19431085	19431085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:19431085G>A	ENST00000375267.2	-	86	12724	c.12721C>T	c.(12721-12723)Ctc>Ttc	p.L4241F	UBR4_ENST00000375224.1_5'UTR|UBR4_ENST00000375217.2_Missense_Mutation_p.L4234F|UBR4_ENST00000375226.2_Missense_Mutation_p.L4217F|UBR4_ENST00000375254.3_Missense_Mutation_p.L4241F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4241					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTACCTGTGAGACTTTTAAGG	0.517000													3	19					0	0	0.004672	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189660	58189660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:58189660C>T	ENST00000318203.5	+	5	1386	c.689C>T	c.(688-690)cCt>cTt	p.P230L		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	230					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGTCCTAGGCCTGAAGAGGGA	0.408000													4	11					0	0	0.000602	0	0
CPZ	8532	broad.mit.edu	37	4	8613827	8613827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:8613827G>A	ENST00000429646.2	+	6	2918	c.125G>A	c.(124-126)gGa>gAa	p.G42E	CPZ_ENST00000315782.6_Missense_Mutation_p.G423E|CPZ_ENST00000382480.2_Missense_Mutation_p.G297E|CPZ_ENST00000360986.4_Missense_Mutation_p.G434E			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	434	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AATAGGTGTGGAGGCAATTTC	0.597000													9	21					0	0	0.006214	0	0
SLC27A1	376497	broad.mit.edu	37	19	17598335	17598335	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:17598335G>T	ENST00000252595.7	+	4	888	c.791G>T	c.(790-792)aGc>aTc	p.S264I	SLC27A1_ENST00000442725.1_Missense_Mutation_p.S264I|SLC27A1_ENST00000598424.1_Missense_Mutation_p.S85I	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	264	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GTCGTGCACAGCAGGTGAGGG	0.612000													5	12					3.59834e-05	3.67877e-05	0.001168	1	0
ARL14	80117	broad.mit.edu	37	3	160395299	160395299	+	Silent	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:160395299A>G	ENST00000320767.2	+	1	352	c.165A>G	c.(163-165)gaA>gaG	p.E55E		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	55					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			TCGAGTTGGAAAGGAATCTTT	0.428000													12	35					0	0	0.001855	0	0
CLCA4	22802	broad.mit.edu	37	1	87036790	87036790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:87036790G>A	ENST00000370563.3	+	8	1255	c.1213G>A	c.(1213-1215)Gga>Aga	p.G405R	CLCA4_ENST00000263723.5_Missense_Mutation_p.G118R	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	405	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CCAACTCGATGGATCCGAAGT	0.418000													40	82					0	0	0.002522	0	0
APBB2	323	broad.mit.edu	37	4	40936483	40936483	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:40936483G>A	ENST00000295974.8	-	10	1870	c.1241C>T	c.(1240-1242)cCa>cTa	p.P414L	APBB2_ENST00000506352.1_Missense_Mutation_p.P393L|APBB2_ENST00000508593.1_Missense_Mutation_p.P415L|APBB2_ENST00000513140.1_Missense_Mutation_p.P393L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	414	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTTGGCTTCTGGGTCACTGTT	0.378000													25	79					0	0	0.009535	0	0
PIK3R6	146850	broad.mit.edu	37	17	8726721	8726721	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:8726721G>A	ENST00000311434.9	-	14	1848	c.1609C>T	c.(1609-1611)Cag>Tag	p.Q537*	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	537					platelet activation	cytosol											GTGTAGATCTGGAAATAGATG	0.557000													7	17					0	0	0.001984	0	0
UNC5C	8633	broad.mit.edu	37	4	96256715	96256715	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:96256715G>A	ENST00000453304.1	-	2	540	c.192C>T	c.(190-192)ttC>ttT	p.F64F	UNC5C_ENST00000506749.1_Silent_p.F64F|UNC5C_ENST00000504962.1_Silent_p.F64F	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	64	Ig-like.				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)		GCTCAATAAGGAAATGTGGCA	0.413000													8	19					0	0	0.003080	0	0
MYH4	4622	broad.mit.edu	37	17	10362577	10362577	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:10362577G>A	ENST00000255381.2	-	15	1688	c.1578C>T	c.(1576-1578)ctC>ctT	p.L526L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	526	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						CCTTCTCGATGAGCTCGATGC	0.478000													22	55					0	0	0.003954	0	0
PLCL2	23228	broad.mit.edu	37	3	17052090	17052090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:17052090G>A	ENST00000418129.2	+	2	1339	c.874G>A	c.(874-876)Gat>Aat	p.D292N	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.D292N|PLCL2_ENST00000432376.1_Missense_Mutation_p.D292N	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	418					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TTATATATTCGATCCAGAACA	0.388000													31	43					0	0	0.002445	0	0
ADCY5	111	broad.mit.edu	37	3	123019094	123019094	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:123019094G>A	ENST00000462833.1	-	15	3985	c.2773C>T	c.(2773-2775)Ctg>Ttg	p.L925L	ADCY5_ENST00000309879.5_Silent_p.L575L|ADCY5_ENST00000491190.1_Silent_p.L558L	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	925					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTGATCTGCAGGAACACGGAG	0.642000													7	27					0	0	0.004482	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655068	31655068	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:31655068G>A	ENST00000340345.4	-	1	208	c.183C>T	c.(181-183)tgC>tgT	p.C61C		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	61						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AGGATTCTTGGCAGTAATCCA	0.512000													24	49					0	0	0.006320	0	0
TAGAP	117289	broad.mit.edu	37	6	159462504	159462504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:159462504C>T	ENST00000367066.3	-	6	690	c.359G>A	c.(358-360)gGg>gAg	p.G120E	TAGAP_ENST00000338313.5_Missense_Mutation_p.G120E|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_5'UTR|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	120	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCTGAATATCCCTTCCGTTGA	0.502000													8	35					0	0	0.003080	0	0
TTC39A	22996	broad.mit.edu	37	1	51787445	51787445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:51787445C>T	ENST00000262676.5	-	2	245	c.85G>A	c.(85-87)Gac>Aac	p.D29N	TTC39A_ENST00000413473.2_Missense_Mutation_p.D36N|TTC39A_ENST00000451380.1_Missense_Mutation_p.D32N|TTC39A_ENST00000447632.2_Missense_Mutation_p.D33N|TTC39A_ENST00000262675.7_Missense_Mutation_p.D5N|TTC39A_ENST00000371750.5_Missense_Mutation_p.D33N|TTC39A_ENST00000371747.3_Missense_Mutation_p.D32N			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	33							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						AGGAAGAGGTCCAGGGCGGTC	0.632000													10	25					0	0	0.008291	0	0
MCHR2	84539	broad.mit.edu	37	6	100369011	100369011	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:100369011C>T	ENST00000281806.2	-	6	1142	c.828G>A	c.(826-828)caG>caA	p.Q276Q	MCHR2_ENST00000445970.1_Silent_p.Q276Q|MCHR2_ENST00000369212.1_Silent_p.Q276Q	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	276						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCTGTTCCATCTGTAAGTTCA	0.473000													17	46					0	0	0.004990	0	0
KCND2	3751	broad.mit.edu	37	7	120382645	120382645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:120382645G>A	ENST00000331113.4	+	4	2421	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	486					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCACTGCCTGGAAAAAACCAC	0.473000													20	38					0	0	0.001882	0	0
AKR1D1	6718	broad.mit.edu	37	7	137801379	137801379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:137801379C>T	ENST00000242375.3	+	9	994	c.952C>T	c.(952-954)Cct>Tct	p.P318S	AKR1D1_ENST00000411726.2_Missense_Mutation_p.P277S|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Missense_Mutation_p.S290F	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	318					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						GCGCGATCATCCTGAATACCC	0.448000													31	75					0	0	0.003271	0	0
RYR1	6261	broad.mit.edu	37	19	38976641	38976641	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:38976641C>T	ENST00000355481.4	+	34	5477	c.5346C>T	c.(5344-5346)ttC>ttT	p.F1782F	RYR1_ENST00000360985.3_Silent_p.F1782F|RYR1_ENST00000359596.3_Silent_p.F1782F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1782	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCCCTGTTTCGTGGCCGCTC	0.682000													12	22					0	0	0.000978	0	0
LGMN	5641	broad.mit.edu	37	14	93178216	93178216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:93178216C>T	ENST00000393218.2	-	10	1032	c.695G>A	c.(694-696)tGg>tAg	p.W232*	LGMN_ENST00000334869.4_Nonsense_Mutation_p.W232*|LGMN_ENST00000557434.1_Nonsense_Mutation_p.W232*|LGMN_ENST00000555699.1_Nonsense_Mutation_p.W232*	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	232					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		GACGCTGTACCAGTCCCCCAG	0.522000													15	23					0	0	0.003163	0	0
OR4C11	219429	broad.mit.edu	37	11	55371798	55371798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:55371798C>T	ENST00000302231.4	-	1	76	c.52G>A	c.(52-54)Gat>Aat	p.D18N		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CTCAAGGGATCCTGTGTTAAT	0.383000													17	12					0	0	0.004007	0	0
CIB3	117286	broad.mit.edu	37	19	16275555	16275555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:16275555C>T	ENST00000269878.4	-	5	565	c.516G>A	c.(514-516)atG>atA	p.M172I	CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Missense_Mutation_p.M123I	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	172	EF-hand 3.						calcium ion binding	p.M172I(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CCCGGAGGATCATGTTCTGGA	0.572000													13	27					0	0	0.003163	0	0
PCLO	27445	broad.mit.edu	37	7	82546143	82546143	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:82546143A>C	ENST00000423517.2	-	7	11496	c.11159T>G	c.(11158-11160)gTt>gGt	p.V3720G	PCLO_ENST00000437081.1_Missense_Mutation_p.V440G|PCLO_ENST00000333891.8_Missense_Mutation_p.V3720G	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3651					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						AGTTCTTTTAACTTTTTTCTG	0.383000													23	54					0	0	0.009535	0	0
MLH3	27030	broad.mit.edu	37	14	75515207	75515207	+	Silent	SNP	G	G	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:75515207G>C	ENST00000355774.2	-	2	1367	c.1152C>G	c.(1150-1152)tcC>tcG	p.S384S	MLH3_ENST00000556740.1_Silent_p.S384S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556257.1_Silent_p.S384S|MLH3_ENST00000238662.7_Silent_p.S384S	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	384					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TCCTCTCATCGGAAGTCACAC	0.328000								Mismatch excision repair (MMR)					6	20					0	0	0.001168	0	0
DSCR10	259234	broad.mit.edu	37	21	39580464	39580464	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:39580464G>A	ENST00000432141.1	+	0	586					NR_027695.1																						TTTCTGTGCAGAGCCATGCTC	0.547000													51	159					0	0	0.003610	0	0
CFAP54	144535	broad.mit.edu	37	12	97051840	97051840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:97051840G>A	ENST00000524981.3	+	4	634	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K				Q6ZTY8	CL063_HUMAN		186										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						GGAAAAATGGGAAACACTAGT	0.333000													9	31					0	0	0.006214	0	0
NRG1	3084	broad.mit.edu	37	8	32505585	32505585	+	Silent	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:32505585T>C	ENST00000520502.2	+	1	349	c.349T>C	c.(349-351)Tta>Cta	p.L117L	NRG1_ENST00000341377.5_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000356819.4_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	0	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCCTGGGGGGTTAGGCCAGGA	0.537000													19	54					0	0	0.008871	0	0
FER1L6	654463	broad.mit.edu	37	8	125047670	125047670	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:125047670C>A	ENST00000522917.1	+	19	2645	c.2439C>A	c.(2437-2439)caC>caA	p.H813Q	FER1L6_ENST00000399018.1_Missense_Mutation_p.H813Q|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	813	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCACCAATCACCCCCCATCTA	0.542000													7	27					0.00198382	0.00202284	0.001984	1	0
PAPPA2	60676	broad.mit.edu	37	1	176709186	176709186	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:176709186C>T	ENST00000367662.3	+	14	5169	c.4005C>T	c.(4003-4005)ttC>ttT	p.F1335F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1335					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATGTCCTTTTCCACCATACCA	0.483000													20	59					0	0	0.002299	0	0
GRID2	2895	broad.mit.edu	37	4	94690535	94690535	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:94690535C>T	ENST00000282020.4	+	15	2793	c.2535C>T	c.(2533-2535)tcC>tcT	p.S845S	GRID2_ENST00000510992.1_Silent_p.S750S	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	845					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTGTCCTCTCCTGCTTCATAG	0.493000													14	36					0	0	0.003163	0	0
NPAP1	23742	broad.mit.edu	37	15	24922858	24922858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:24922858G>A	ENST00000329468.2	+	1	2318	c.1844G>A	c.(1843-1845)gGa>gAa	p.G615E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AGGCACCCGGGAAAGACATCA	0.473000													17	52					0	0	0.006122	0	0
ATN1	1822	broad.mit.edu	37	12	7047862	7047862	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:7047862C>T	ENST00000356654.4	+	7	2973	c.2736C>T	c.(2734-2736)gaC>gaT	p.D912D	ATN1_ENST00000396684.2_Silent_p.D912D	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	912					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GGGCAGTGGACCCGGGGCTCC	0.627000													30	86					0	0	0.007291	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513233	106513233	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:106513233T>C	ENST00000359195.3	+	4	2447	c.2137T>C	c.(2137-2139)Ttc>Ctc	p.F713L	PIK3CG_ENST00000440650.2_Missense_Mutation_p.F713L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.F713L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	713					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCAGCAGAGGTTCGCTGTGAT	0.458000													18	51					0	0	0.008871	0	0
SEC22B	9554	broad.mit.edu	37	1	145115983	145115983	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:145115983C>T	ENST00000453618.1	+	0	1069							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TATTAGAATCCAAGTGGAACT	0.398000													8	56					0	0	0.003080	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40837285	40837285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:40837285C>T	ENST00000264638.4	+	5	779	c.562C>T	c.(562-564)Ccg>Tcg	p.P188S	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	188					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTACCGCTTCCCGCGAGGGGT	0.647000													10	61					0	0	0.008291	0	0
TSHZ1	10194	broad.mit.edu	37	18	72997681	72997681	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:72997681T>A	ENST00000322038.5	+	2	768	c.184T>A	c.(184-186)Tcg>Acg	p.S62T	TSHZ1_ENST00000580243.1_Missense_Mutation_p.S107T	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	107	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CGACAGCGTCTCGTACCCCCA	0.557000													12	19					0	0	0.000978	0	0
TULP1	7287	broad.mit.edu	37	6	35478719	35478719	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:35478719G>A	ENST00000229771.6	-	5	497	c.418C>T	c.(418-420)Ctt>Ttt	p.L140F	TULP1_ENST00000322263.4_Missense_Mutation_p.L87F	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	140					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGAGGCAGAAGGATTTTctct	0.577000													40	47					0	0	0.005524	0	0
LCE1A	353131	broad.mit.edu	37	1	152800131	152800131	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:152800131C>T	ENST00000335123.2	+	1	183	c.183C>T	c.(181-183)agC>agT	p.S61S		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	61	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCGGCTGCAGCTCTGGGGGAG	0.677000													6	48					0	0	0.001984	0	0
DDX43	55510	broad.mit.edu	37	6	74110016	74110016	+	Silent	SNP	G	G	A	rs140241372		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:74110016G>A	ENST00000370336.4	+	3	524	c.366G>A	c.(364-366)acG>acA	p.T122T	DDX43_ENST00000539829.1_Silent_p.T122T	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	122	KH.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CAATGCAAACGAAAGCAAAAG	0.353000													18	44					0	0	0.004990	0	0
CRB2	286204	broad.mit.edu	37	9	126128238	126128238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:126128238C>T	ENST00000373631.3	+	3	462	c.461C>T	c.(460-462)cCc>cTc	p.P154L	CRB2_ENST00000359999.3_Missense_Mutation_p.P154L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	154	EGF-like 3; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCCTCAGCGCCCTGCCTGCAC	0.701000													8	26					0	0	0.006214	0	0
GLI1	2735	broad.mit.edu	37	12	57865553	57865553	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:57865553C>T	ENST00000228682.2	+	12	3121	c.3030C>T	c.(3028-3030)agC>agT	p.S1010S	GLI1_ENST00000546141.1_Silent_p.S969S|GLI1_ENST00000543426.1_Silent_p.S882S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	1010					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CAAACCCCAGCTGTGGTCATC	0.587000													30	69					0	0	0.002096	0	0
ZPBP	11055	broad.mit.edu	37	7	49977183	49977183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:49977183C>T	ENST00000046087.2	-	8	1066	c.997G>A	c.(997-999)Gga>Aga	p.G333R	ZPBP_ENST00000419417.1_Missense_Mutation_p.G332R|ZPBP_ENST00000491129.1_Intron	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	333					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CAATGAATTCCATCACGGGGG	0.353000													17	49					0	0	0.008871	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21790049	21790049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:21790049G>A	ENST00000206660.6	+	13	1648	c.1648G>A	c.(1648-1650)Gat>Aat	p.D550N	RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.D523N|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.D192N|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D523N|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.D550N			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	550					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGCTGACAATGATAATAGAGA	0.383000													6	15					0	0	0.001168	0	0
APOA1	335	broad.mit.edu	37	11	116707761	116707761	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:116707761G>A	ENST00000236850.4	-	3	521	c.156C>T	c.(154-156)gaC>gaT	p.D52D	APOA1_ENST00000359492.2_Silent_p.D52D|APOA1_ENST00000375323.1_Silent_p.D52D|APOA1_ENST00000375320.1_Silent_p.D52D|AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000375329.2_Intron	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	52					Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GGGACACATAGTCTCTGCCGC	0.592000													107	237					0	0	0.003610	0	0
EFR3A	23167	broad.mit.edu	37	8	132996524	132996524	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:132996524A>G	ENST00000254624.5	+	15	1939	c.1714A>G	c.(1714-1716)Att>Gtt	p.I572V	EFR3A_ENST00000334503.4_Missense_Mutation_p.I572V|EFR3A_ENST00000519656.1_Missense_Mutation_p.I536V	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	572						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TATTGATCTCATTCGACTGGC	0.348000													22	53					0	0	0.002780	0	0
TMEM135	65084	broad.mit.edu	37	11	87032329	87032329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:87032329C>T	ENST00000340353.7	+	14	1467	c.1265C>T	c.(1264-1266)cCa>cTa	p.P422L	TMEM135_ENST00000535167.1_Missense_Mutation_p.P305L|TMEM135_ENST00000532959.1_Missense_Mutation_p.P315L|TMEM135_ENST00000305494.5_Missense_Mutation_p.P444L	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	444						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGTTGGATCCAAGATACACA	0.373000													7	31					0	0	0.006214	0	0
ASAP3	55616	broad.mit.edu	37	1	23769057	23769057	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:23769057G>A	ENST00000336689.3	-	6	566	c.522C>T	c.(520-522)atC>atT	p.I174I	ASAP3_ENST00000437606.2_Silent_p.I165I	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	174					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CCTCCCCAGGGATCCCTCCTG	0.627000													8	31					0	0	0.003080	0	0
RSPO2	340419	broad.mit.edu	37	8	108970434	108970434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:108970434C>T	ENST00000276659.5	-	5	1110	c.490G>A	c.(490-492)Gga>Aga	p.G164R	RSPO2_ENST00000517781.1_Missense_Mutation_p.G100R|RSPO2_ENST00000378439.2_Missense_Mutation_p.G100R|RSPO2_ENST00000517939.1_Missense_Mutation_p.G97R	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	164	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CATTTAAATCCACATGTGCGA	0.388000													10	34					0	0	0.008291	0	0
OR1D5	8386	broad.mit.edu	37	17	2966263	2966263	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:2966263G>A	ENST00000575751.1	-	1	638	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						ATGTGGTCATGAACCCTAAGG	0.493000													6	12					0	0	0.006214	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	5605943	5605943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrY:5605943C>T	ENST00000215473.6	+	6	3983	c.3983C>T	c.(3982-3984)tCc>tTc	p.S1328F				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1328					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCCAGACCGTCCAGAGGTGAT	0.383000													25	11					0	0	0.003330	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895345	45895345	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:45895345G>A	ENST00000418234.2	-	8	1686	c.1608C>T	c.(1606-1608)ccC>ccT	p.P536P	PPP1R13L_ENST00000360957.5_Silent_p.P536P	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	536	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGTGGGTAGGGGGCAGGGCCA	0.682000													26	45					0	0	0.004656	0	0
NHLRC3	387921	broad.mit.edu	37	13	39613751	39613751	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:39613751C>T	ENST00000379600.3	+	3	610	c.288C>T	c.(286-288)ttC>ttT	p.F96F	NHLRC3_ENST00000470258.1_5'UTR|NHLRC3_ENST00000379599.2_Silent_p.F96F	NM_001012754.2	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	96						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		ATGGATATTTCCTACGAGCCT	0.398000													15	29					0	0	0.003163	0	0
THSD7B	80731	broad.mit.edu	37	2	138169301	138169301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:138169301C>T	ENST00000409968.1	+	14	2996	c.2818C>T	c.(2818-2820)Cca>Tca	p.P940S	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.P909S|THSD7B_ENST00000272643.3_Missense_Mutation_p.P940S					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTGCATTCTTCCAGAAGGCAG	0.483000													30	45					0	0	0.009535	0	0
MAP3K11	4296	broad.mit.edu	37	11	65367008	65367008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:65367008G>A	ENST00000309100.3	-	9	2548	c.2063C>T	c.(2062-2064)aCc>aTc	p.T688I	MAP3K11_ENST00000530153.1_Missense_Mutation_p.T431I|MAP3K11_ENST00000534432.1_5'UTR|MAP3K11_ENST00000532507.1_Missense_Mutation_p.T104I	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	688	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGGCGGCTCGGTCGGGCAGGG	0.741000													23	40					0	0	0.004656	0	0
CES3	23491	broad.mit.edu	37	16	67000697	67000697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:67000697G>A	ENST00000303334.4	+	8	1062	c.991G>A	c.(991-993)Gag>Aag	p.E331K	CES3_ENST00000394037.1_Missense_Mutation_p.E331K	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	331						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)		ACTCCTGAAGGAGAAGCCCTT	0.542000													33	209					0	0	0.004289	0	0
NCBP2L	392517	broad.mit.edu	37	X	107037766	107037766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:107037766G>A	ENST00000372379.1	+	1	316	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K						nuclear cap binding protein subunit 2-like											large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						CTGCCTAGATGAATGGATTAT	0.438000													22	14					0	0	0.004656	0	0
GPR158	57512	broad.mit.edu	37	10	25755615	25755615	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:25755615G>A	ENST00000376351.3	+	5	1730	c.1371G>A	c.(1369-1371)acG>acA	p.T457T		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	457						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						TGTTGGAAACGATCCTTTTTG	0.338000													12	24					0	0	0.001855	0	0
ASTN2	23245	broad.mit.edu	37	9	119903608	119903608	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:119903608G>A	ENST00000313400.4	-	4	1265	c.1165C>T	c.(1165-1167)Cga>Tga	p.R389*	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Nonsense_Mutation_p.R389*			O75129	ASTN2_HUMAN	astrotactin 2	389						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						GGCCTACCTCGAGACTTGCTC	0.577000													10	24					0	0	0.001368	0	0
ESPL1	9700	broad.mit.edu	37	12	53663155	53663155	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:53663155G>A	ENST00000257934.4	+	3	520	c.429G>A	c.(427-429)gtG>gtA	p.V143V	ESPL1_ENST00000552462.1_Silent_p.V143V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	143					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATGAGGCCGTGGCTCGGGGCA	0.622000													20	40					0	0	0.010504	0	0
MAPT	4137	broad.mit.edu	37	17	44060998	44060998	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:44060998C>T	ENST00000344290.5	+	6	1150	c.828C>T	c.(826-828)tcC>tcT	p.S276S	MAPT_ENST00000570299.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000262410.5_Silent_p.S276S|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Silent_p.S276S|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000571987.1_Silent_p.S276S|MAPT_ENST00000574436.1_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	276					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CCAAAGTTTCCACAGAGATCC	0.642000													7	55					0	0	0.006214	0	0
CLGN	1047	broad.mit.edu	37	4	141317007	141317007	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:141317007C>T	ENST00000325617.5	-	10	1555	c.1115G>A	c.(1114-1116)tGg>tAg	p.W372*	CLGN_ENST00000537281.1_Nonsense_Mutation_p.W372*|CLGN_ENST00000414773.1_Nonsense_Mutation_p.W372*	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	372					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TGGAGGTCTCCATACTCCTTT	0.398000													9	36					0	0	0.004482	0	0
INTS2	57508	broad.mit.edu	37	17	59945003	59945003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:59945003C>T	ENST00000444766.3	-	25	3605	c.3530G>A	c.(3529-3531)gGa>gAa	p.G1177E	INTS2_ENST00000251334.6_Missense_Mutation_p.G1169E	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1177					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						ATCCATGCTTCCAGTGTCCCT	0.333000													15	46					0	0	0.003163	0	0
PI4KA	5297	broad.mit.edu	37	22	21088122	21088122	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:21088122G>A	ENST00000255882.6	-	35	4148	c.4062C>T	c.(4060-4062)acC>acT	p.T1354T	PI4KA_ENST00000572273.1_Silent_p.T1296T|PI4KA_ENST00000414196.3_Silent_p.T106T	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1296					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ACAGCCCCAGGGTCAGCAGCC	0.587000													23	54					0	0	0.003954	0	0
GRIA2	2891	broad.mit.edu	37	4	158224908	158224908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:158224908G>A	ENST00000296526.7	+	3	759	c.434G>A	c.(433-435)tGg>tAg	p.W145*	GRIA2_ENST00000264426.9_Nonsense_Mutation_p.W145*|GRIA2_ENST00000507898.1_Nonsense_Mutation_p.W98*|GRIA2_ENST00000393815.2_Nonsense_Mutation_p.W98*|GRIA2_ENST00000449365.1_Nonsense_Mutation_p.W98*	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	145					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TACTATCAATGGGACAAGTTT	0.438000													30	66					0	0	0.007291	0	0
ERC2	26059	broad.mit.edu	37	3	56330430	56330430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:56330430C>T	ENST00000288221.6	-	3	946	c.691G>A	c.(691-693)Gag>Aag	p.E231K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	231						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)		GTTCGCAGCTCATCTTGAAGG	0.512000													15	36					0	0	0.002450	0	0
RNF180	285671	broad.mit.edu	37	5	63509989	63509989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:63509989C>T	ENST00000389100.4	+	4	908	c.836C>T	c.(835-837)tCc>tTc	p.S279F	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.S279F	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	279						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AATAGCTATTCCTTTCAGAAT	0.403000													15	41					0	0	0.006122	0	0
RAB27B	5874	broad.mit.edu	37	18	52544930	52544930	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:52544930C>T	ENST00000262094.5	+	2	635	c.114C>T	c.(112-114)ttC>ttT	p.F38F	RAB27B_ENST00000586594.1_3'UTR	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	38					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		ATCCCAAATTCATCACTACAG	0.378000													10	26					0	0	0.001368	0	0
PLCG1	5335	broad.mit.edu	37	20	39792111	39792111	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:39792111C>T	ENST00000373272.2	+	9	1288	c.883C>T	c.(883-885)Ctg>Ttg	p.L295L	PLCG1_ENST00000373271.1_Silent_p.L295L|PLCG1_ENST00000244007.3_Silent_p.L295L	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	295					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				ATACTTCTTCCTGGATGAGGT	0.567000													11	27					0	0	0.000978	0	0
DOCK1	1793	broad.mit.edu	37	10	128830008	128830008	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:128830008C>T	ENST00000280333.6	+	17	1765	c.1656C>T	c.(1654-1656)atC>atT	p.I552I		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	552	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACGATCTTATCGTCTATAAGG	0.438000													21	32					0	0	0.002780	0	0
ASXL3	80816	broad.mit.edu	37	18	31323829	31323829	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:31323829C>T	ENST00000269197.5	+	12	4017	c.4017C>T	c.(4015-4017)acC>acT	p.T1339T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1339	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTCAGTACACCTCTGTGCCAA	0.463000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	115					0	0	0.008740	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446660	169446660	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:169446660G>A	ENST00000236137.5	-	2	776	c.540C>T	c.(538-540)gtC>gtT	p.V180V	SLC19A2_ENST00000367804.3_Intron|SLC19A2_ENST00000367802.3_Silent_p.V180V	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	180					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					CTGCCACTGAGACAAGGATTT	0.512000													10	27					0	0	0.008291	0	0
UBE2V2	7336	broad.mit.edu	37	8	48962467	48962467	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:48962467C>A	ENST00000523111.2	+	3	275	c.220C>A	c.(220-222)Cca>Aca	p.P74T	UBE2V2_ENST00000517630.1_Missense_Mutation_p.P34T|UBE2V2_ENST00000521346.1_Missense_Mutation_p.P34T|UBE2V2_ENST00000520809.1_Missense_Mutation_p.P34T	NM_003350.2	NP_003341.1	Q15819	UB2V2_HUMAN	ubiquitin-conjugating enzyme E2 variant 2	74					cell proliferation|DNA double-strand break processing|protein polyubiquitination|regulation of DNA repair	cytoplasm|nucleus|UBC13-MMS2 complex	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)	3		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)				ACCTAAATACCCAGAAGCTCC	0.299000								Rad6 pathway					6	22					3.59834e-05	3.67877e-05	0.001168	1	0
ZNF366	167465	broad.mit.edu	37	5	71756160	71756160	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:71756160C>T	ENST00000318442.5	-	2	1654	c.1164G>A	c.(1162-1164)cgG>cgA	p.R388R		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGATGGGGCCCCGGTGCGTGG	0.612000													14	33					0	0	0.001855	0	0
CPNE4	131034	broad.mit.edu	37	3	131404763	131404763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:131404763G>A	ENST00000512055.1	-	10	2673	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	CPNE4_ENST00000502818.1_Missense_Mutation_p.R201C|CPNE4_ENST00000429747.1_Missense_Mutation_p.R183C|CPNE4_ENST00000512332.1_Missense_Mutation_p.R201C|CPNE4_ENST00000511604.1_Missense_Mutation_p.R183C			Q96A23	CPNE4_HUMAN	copine IV	183	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TCATTCATACGAAAAATTTCC	0.383000													8	13					0	0	0.006214	0	0
C2orf53	339779	broad.mit.edu	37	2	27361021	27361021	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:27361021G>A	ENST00000335524.3	-	3	702	c.177C>T	c.(175-177)ccC>ccT	p.P59P		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	59	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGGGAGGAGGGACGACGGG	0.567000													3	25					0	0	0.004672	0	0
IL36B	27177	broad.mit.edu	37	2	113786542	113786542	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:113786542G>A	ENST00000259213.4	-	4	342	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	IL36B_ENST00000327407.2_Nonsense_Mutation_p.Q79*	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	79					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						GGCTTGCCCTGAATTTCTGCA	0.398000													21	41					0	0	0.005443	0	0
UCK1	83549	broad.mit.edu	37	9	134404656	134404656	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:134404656A>G	ENST00000372215.4	-	4	460	c.365_splice	c.e4-1	p.L123_splice	UCK1_ENST00000372210.3_Splice_Site_p.L114_splice|UCK1_ENST00000372208.3_Splice_Site_p.L123_splice|UCK1_ENST00000372211.3_Splice_Site_p.L128_splice|UCK1_ENST00000459858.1_5'UTR	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	123					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GTCTCTGGTAACCTGAGGGGC	0.602000													6	27					0	0	0.001168	0	0
USH2A	7399	broad.mit.edu	37	1	215847677	215847677	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:215847677G>A	ENST00000366943.2	-	63	13962	c.13576C>T	c.(13576-13578)Cga>Tga	p.R4526*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.R4526*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4526	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGCTGGTTCGATCTTTGACA	0.517000										HNSCC(13;0.011)			26	59					0	0	0.004656	0	0
ABCC6	368	broad.mit.edu	37	16	16267237	16267237	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:16267237C>T	ENST00000205557.7	-	21	2720	c.2691G>A	c.(2689-2691)aaG>aaA	p.K897K		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	897					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TGGTACGGTCCTTCTCAGGGA	0.532000													10	46					0	0	0.006214	0	0
C9orf171	389799	broad.mit.edu	37	9	135413046	135413046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:135413046G>A	ENST00000343036.2	+	5	739	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	C9orf171_ENST00000393216.2_Missense_Mutation_p.E195K	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	231										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GTGGGTACAGGAACAAAAGGC	0.552000													22	65					0	0	0.002299	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45945705	45945705	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:45945705G>A	ENST00000531526.1	+	4	480	c.368_splice	c.e4-1	p.R123_splice	GYLTL1B_ENST00000325468.5_Splice_Site_p.R123_splice|GYLTL1B_ENST00000389968.3_5'UTR|GYLTL1B_ENST00000536139.1_Splice_Site_p.R92_splice|GYLTL1B_ENST00000401752.1_Splice_Site_p.R123_splice|GYLTL1B_ENST00000529052.1_Splice_Site_p.R92_splice	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	123					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CACCCAAAAGGAAAAATCCAC	0.597000													17	25					0	0	0.007413	0	0
SCN11A	11280	broad.mit.edu	37	3	38889158	38889158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:38889158G>A	ENST00000302328.3	-	26	4601	c.4403C>T	c.(4402-4404)gCt>gTt	p.A1468V	SCN11A_ENST00000456224.3_Missense_Mutation_p.A1430V|SCN11A_ENST00000450244.1_Missense_Mutation_p.A1468V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1468					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)	GCCAATCCGAGCCAAGCGGAC	0.488000													5	16					0	0	0.001168	0	0
ACOXL	55289	broad.mit.edu	37	2	111789215	111789215	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:111789215G>A	ENST00000389811.4	+	16	1607	c.1383G>A	c.(1381-1383)aaG>aaA	p.K461K	ACOXL_ENST00000439055.1_Silent_p.K431K			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	461					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TAAAGACCAAGAAGGAGGATT	0.453000													16	28					0	0	0.006122	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428151	128428151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:128428151C>T	ENST00000465342.2	+	2	1197	c.40C>T	c.(40-42)Cct>Tct	p.P14S	CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.P14S|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	14						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						CTTCTCGCCCCCTCCAGGCGG	0.632000													4	1					0	0	0.009096	0	0
OBSCN	84033	broad.mit.edu	37	1	228473858	228473858	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:228473858C>T	ENST00000570156.2	+	39	10445	c.10371C>T	c.(10369-10371)atC>atT	p.I3457I	OBSCN_ENST00000359599.6_Silent_p.I1875I|OBSCN_ENST00000366707.4_Silent_p.I147I|OBSCN_ENST00000284548.11_Silent_p.I3028I|OBSCN_ENST00000422127.1_Silent_p.I3028I|OBSCN_ENST00000366709.4_Silent_p.I147I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2492	Ig-like 35.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTTGCCGGATCTCCCCGGCCA	0.627000													6	10					0	0	0.001168	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617294	77617294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:77617294G>A	ENST00000521891.2	+	2	1419	c.971G>A	c.(970-972)gGg>gAg	p.G324E	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G324E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G324E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G324E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	324						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATAATACAGGGGATTGGCAAA	0.433000										HNSCC(33;0.089)			15	46					0	0	0.004990	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204226948	204226948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:204226948G>A	ENST00000272203.3	-	9	1373	c.1057C>T	c.(1057-1059)Ccc>Tcc	p.P353S	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.P373S	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	353	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GAGGAGTAGGGGCCATAGTAC	0.587000													18	45					0	0	0.006122	0	0
SYNE4	163183	broad.mit.edu	37	19	36494300	36494300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:36494300G>A	ENST00000324444.3	-	8	1265	c.1154C>T	c.(1153-1155)gCc>gTc	p.A385V	SYNE4_ENST00000340477.5_Missense_Mutation_p.A272V	NM_001039876.1	NP_001034965.1			spectrin repeat containing, nuclear envelope family member 4																		GGGTATTCGGGCATGAGAGCA	0.552000													3	15					0	0	0.004672	0	0
GALR1	2587	broad.mit.edu	37	18	74980684	74980684	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:74980684G>A	ENST00000299727.3	+	3	876	c.876G>A	c.(874-876)gcG>gcA	p.A292A		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	292					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		ACTGCCTGGCGTACAGCAATT	0.493000													22	38					0	0	0.001882	0	0
BCL11A	53335	broad.mit.edu	37	2	60688266	60688266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:60688266G>A	ENST00000335712.6	-	4	2008	c.1781C>T	c.(1780-1782)tCg>tTg	p.S594L	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Missense_Mutation_p.S263L|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.S560L|BCL11A_ENST00000356842.4_Missense_Mutation_p.S594L|BCL11A_ENST00000538214.1_Missense_Mutation_p.S560L	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	594					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TATGCGGTCCGACTCGCCGGC	0.692000			T	IGH@	B-CLL								55	108					0	0	0.003610	0	0
ENPP6	133121	broad.mit.edu	37	4	185038029	185038029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:185038029C>T	ENST00000296741.2	-	5	976	c.835G>A	c.(835-837)Gcc>Acc	p.A279T		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	279					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TTCCCAGGGGCCGGCCAAAGG	0.562000													9	64					0	0	0.006214	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909132	32909132	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:32909132T>A	ENST00000304056.4	-	4	2396	c.1697A>T	c.(1696-1698)cAt>cTt	p.H566L	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	566										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TTCAGATATATGCTGCCGCAG	0.478000													26	56					0	0	0.003954	0	0
FGD3	89846	broad.mit.edu	37	9	95780429	95780429	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:95780429C>T	ENST00000375482.3	+	11	1783	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	FGD3_ENST00000538555.1_Silent_p.I32I|FGD3_ENST00000337352.6_Silent_p.I429I|FGD3_ENST00000416701.2_Silent_p.I429I	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	429	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TGCAGGATATCGTCAAGCCAA	0.463000													16	51					0	0	0.001882	0	0
SCN3A	6328	broad.mit.edu	37	2	166003341	166003341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:166003341C>T	ENST00000360093.3	-	12	2070	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	SCN3A_ENST00000409101.3_Missense_Mutation_p.E527K|SCN3A_ENST00000283254.7_Missense_Mutation_p.E527K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	527						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCTTCAGATTCGGATTTGGGA	0.438000													24	75					0	0	0.003954	0	0
C6	729	broad.mit.edu	37	5	41159280	41159280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:41159280C>T	ENST00000263413.3	-	12	2024	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	C6_ENST00000337836.5_Missense_Mutation_p.R587Q	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	587	TSP type-1 3.				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)				ATTGCATTCTCGGGTTCTCGA	0.493000													23	44					0	0	0.002299	0	0
PDLIM5	10611	broad.mit.edu	37	4	95506861	95506861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:95506861C>T	ENST00000317968.4	+	6	992	c.856C>T	c.(856-858)Ctt>Ttt	p.L286F	PDLIM5_ENST00000538141.1_Missense_Mutation_p.L163F|PDLIM5_ENST00000508216.1_Missense_Mutation_p.L183F|PDLIM5_ENST00000514743.1_Missense_Mutation_p.L183F|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000318007.5_Missense_Mutation_p.L163F|PDLIM5_ENST00000542407.1_Missense_Mutation_p.L164F|PDLIM5_ENST00000380180.3_Missense_Mutation_p.L183F|PDLIM5_ENST00000450793.1_Missense_Mutation_p.L183F|PDLIM5_ENST00000437932.1_Missense_Mutation_p.L177F	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	286					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TTTCCGAATCCTTGCCCAGAT	0.468000													8	33					0	0	0.006214	0	0
TENM4	26011	broad.mit.edu	37	11	78413036	78413036	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:78413036G>A	ENST00000278550.7	-	28	5084	c.4622C>T	c.(4621-4623)tCc>tTc	p.S1541F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CACAGCCAAGGAAGATGGGGT	0.502000													8	23					0	0	0.003080	0	0
TAP2	6891	broad.mit.edu	37	6	32798510	32798510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:32798510C>T	ENST00000374897.2	-	8	1477	c.1346G>A	c.(1345-1347)cGa>cAa	p.R449Q	TAP2_ENST00000374899.4_Missense_Mutation_p.R449Q|TAP2_ENST00000452392.2_Missense_Mutation_p.R449Q	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	449					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										ATTTGGCTGTCGGTCCATGTA	0.542000													8	20					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179576943	179576943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179576943G>A	ENST00000589042.1	-	96	27838	c.27614C>T	c.(27613-27615)cCg>cTg	p.P9205L	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P7961L|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P8888L|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8888	Ig-like 75.						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)			GACAAAATACGGTGGTTCTGC	0.448000													15	53					0	0	0.004007	0	0
KCNIP4	80333	broad.mit.edu	37	4	21950252	21950252	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:21950252C>T	ENST00000382152.2	-	1	170	c.3G>A	c.(1-3)atG>atA	p.M1I	KCNIP4_ENST00000447367.2_Start_Codon_SNP_p.M1I	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	1						plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TCCTCACATTCATGTCTAGGG	0.667000													8	16					0	0	0.006214	0	0
TDRD5	163589	broad.mit.edu	37	1	179599910	179599910	+	Silent	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:179599910T>C	ENST00000444136.1	+	7	1231	c.981T>C	c.(979-981)ttT>ttC	p.F327F	TDRD5_ENST00000367614.1_Silent_p.F327F|TDRD5_ENST00000294848.8_Silent_p.F327F	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	327	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGGTAATTTTTAAAGAGCAAC	0.328000													13	22					0	0	0.001855	0	0
KRTAP4-2	85291	broad.mit.edu	37	17	39334064	39334064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:39334064G>A	ENST00000377726.2	-	1	396	c.353C>T	c.(352-354)cCc>cTc	p.P118L		NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	118	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGCAGCTGGGGCGGTAGCA	0.612000													63	60					0	0	0.003610	0	0
OR4A16	81327	broad.mit.edu	37	11	55111335	55111335	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:55111335T>C	ENST00000314721.2	+	1	709	c.659T>C	c.(658-660)cTa>cCa	p.L220P		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GGAGTCATCCTAAACTTCCTT	0.438000													21	62					0	0	0.002780	0	0
TRBJ2-2	28628	broad.mit.edu	37	7	142494277	142494277	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:142494277C>T	ENST00000390413.1	+	0	34																											GGAGAAGGCTCTAGGCTGACC	0.657000													12	27					0	0	0.003163	0	0
MAP3K9	4293	broad.mit.edu	37	14	71216739	71216739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:71216739C>T	ENST00000554752.2	-	4	1060	c.1061G>A	c.(1060-1062)gGc>gAc	p.G354D	MAP3K9_ENST00000553414.1_Missense_Mutation_p.G48D|MAP3K9_ENST00000554146.1_Missense_Mutation_p.G91D|MAP3K9_ENST00000555993.2_Missense_Mutation_p.G354D|MAP3K9_ENST00000381250.4_Missense_Mutation_p.G354D			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	354	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GACTGCTAAGCCATCAATGCC	0.488000													9	39					0	0	0.006214	0	0
OR51I1	390063	broad.mit.edu	37	11	5462652	5462652	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:5462652C>T	ENST00000380211.1	-	1	92	c.93G>A	c.(91-93)ctG>ctA	p.L31L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	31					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)		TGCAGAAAATCAGGGCAACCC	0.537000													17	49					0	0	0.004990	0	0
CELSR1	9620	broad.mit.edu	37	22	46765589	46765589	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:46765589G>A	ENST00000262738.3	-	26	7871	c.7872_splice	c.e26+1	p.I2624_splice		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2624					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCACACTCACGATTATAACAG	0.622000													11	26					0	0	0.000978	0	0
PIPOX	51268	broad.mit.edu	37	17	27383203	27383203	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:27383203C>T	ENST00000323372.4	+	8	1379	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	351					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GGCACGGGTTCAAGCTGGCCC	0.522000													15	42					0	0	0.004007	0	0
RASAL3	64926	broad.mit.edu	37	19	15574876	15574876	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:15574876C>T	ENST00000343625.6	-	2	374	c.294G>A	c.(292-294)ccG>ccA	p.P98P		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	98	Pro-rich.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.P98P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GGTCTGGCTCCGGCGGTGGGT	0.657000													10	19					0	0	0.000978	0	0
OR4K1	79544	broad.mit.edu	37	14	20404300	20404300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:20404300C>T	ENST00000285600.4	+	1	534	c.475C>T	c.(475-477)Cac>Tac	p.H159Y		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTCTGTGAGCCACTTGGCTTT	0.478000													17	44					0	0	0.004990	0	0
CASZ1	54897	broad.mit.edu	37	1	10713648	10713648	+	Silent	SNP	A	A	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:10713648A>C	ENST00000377022.3	-	11	2783	c.2466T>G	c.(2464-2466)ggT>ggG	p.G822G	CASZ1_ENST00000344008.5_Silent_p.G822G|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ACGACACGGCACCCAGGAGGC	0.711000													14	21					0	0	0.002450	0	0
ASB15	142685	broad.mit.edu	37	7	123269216	123269216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:123269216G>A	ENST00000451558.1	+	12	1689	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	ASB15_ENST00000451215.1_Missense_Mutation_p.A390T|ASB15_ENST00000540573.1_Missense_Mutation_p.A390T|ASB15_ENST00000275699.3_Missense_Mutation_p.A390T|ASB15_ENST00000434204.1_Missense_Mutation_p.A390T			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	390					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGCAGTGAGGGCCAATAATTA	0.438000													9	43					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179599705	179599705	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179599705G>A	ENST00000589042.1	-	51	15170	c.14946C>T	c.(14944-14946)tcC>tcT	p.S4982S	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.S3738S|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.S4665S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4665	Ig-like 30.						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)			TCTTCACGAAGGATGGTGGCT	0.423000													3	7					0	0	0.004672	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148968090	148968090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:148968090G>A	ENST00000336498.3	+	20	2154	c.1915G>A	c.(1915-1917)Gac>Aac	p.D639N	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.D288N	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	639					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CAGCAGTCTGGACTCACTTTC	0.507000													17	47					0	0	0.007413	0	0
TNIP2	79155	broad.mit.edu	37	4	2746569	2746569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:2746569G>A	ENST00000510267.1	-	4	867	c.440C>T	c.(439-441)cCc>cTc	p.P147L	TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000503235.1_Intron|TNIP2_ENST00000315423.7_Missense_Mutation_p.P254L	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	254						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CATCAGCTCGGGCTCGTGGGG	0.597000													12	39					0	0	0.001368	0	0
ACE	1636	broad.mit.edu	37	17	61558997	61558997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:61558997C>T	ENST00000290866.4	+	7	1040	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L	ACE_ENST00000538928.1_Missense_Mutation_p.P339L|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.P339L	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	339	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCCCCCATGCCTCCCGAGTTC	0.642000													13	44					0	0	0.001855	0	0
OR2M5	127059	broad.mit.edu	37	1	248308834	248308834	+	Missense_Mutation	SNP	C	C	T	rs150844237		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:248308834C>T	ENST00000366476.1	+	1	385	c.385C>T	c.(385-387)Cct>Tct	p.P129S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			CATTTGCCACCCTCTAAGATA	0.443000													46	160					0	0	0.003610	0	0
VPS13A	23230	broad.mit.edu	37	9	79933473	79933473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:79933473C>T	ENST00000360280.3	+	41	5539	c.5279C>T	c.(5278-5280)tCc>tTc	p.S1760F	VPS13A_ENST00000376636.3_Missense_Mutation_p.S1721F|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.S1760F|VPS13A_ENST00000357409.5_Missense_Mutation_p.S1760F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1760					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AACTGGAGTTCCCTAATAAAT	0.358000													8	19					0	0	0.003080	0	0
C1GALT1	56913	broad.mit.edu	37	7	7283232	7283232	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:7283232C>T	ENST00000436587.2	+	4	1189	c.966C>T	c.(964-966)ctC>ctT	p.L322L	C1GALT1_ENST00000223122.2_Silent_p.L322L	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	322					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TAGAATACCTCGTTTATCATC	0.353000													27	63					0	0	0.005443	0	0
FLT1	2321	broad.mit.edu	37	13	28877373	28877373	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:28877373C>T	ENST00000282397.4	-	30	4199	c.3948G>A	c.(3946-3948)agG>agA	p.R1316R	FLT1_ENST00000543394.1_Silent_p.R339R|FLT1_ENST00000540678.1_Silent_p.R534R	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1316					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ACGCGATTTTCCTTTCCAGCT	0.572000													21	35					0	0	0.002299	0	0
MST1R	4486	broad.mit.edu	37	3	49928029	49928029	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:49928029G>A	ENST00000296474.3	-	18	3726	c.3699C>T	c.(3697-3699)atC>atT	p.I1233I	MST1R_ENST00000344206.4_Silent_p.I1184I	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1233	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCCTGTCCAGGATGTCGCGGG	0.552000													8	23					0	0	0.006214	0	0
MYH7B	57644	broad.mit.edu	37	20	33589805	33589805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:33589805G>A	ENST00000262873.7	+	42	5949	c.5857G>A	c.(5857-5859)Gat>Aat	p.D1953N		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1911						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCACGAGCTGGATGATGCGGA	0.667000													14	26					0	0	0.002450	0	0
IL12RB1	3594	broad.mit.edu	37	19	18191674	18191674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:18191674G>A	ENST00000600835.1	-	5	680	c.377C>T	c.(376-378)tCt>tTt	p.S126F	IL12RB1_ENST00000322153.6_Missense_Mutation_p.S126F|IL12RB1_ENST00000430026.2_Missense_Mutation_p.S126F|IL12RB1_ENST00000593993.1_Missense_Mutation_p.S126F			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	126	Fibronectin type-III 1.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CACCTCAGGAGACTTCTCTGT	0.582000													11	44					0	0	0.000978	0	0
CPZ	8532	broad.mit.edu	37	4	8602878	8602878	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:8602878C>T	ENST00000360986.4	+	3	324	c.150C>T	c.(148-150)acC>acT	p.T50T	CPZ_ENST00000315782.6_Silent_p.T39T|CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000382480.2_5'UTR	NM_001014447.2	NP_001014447.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	50	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.L48fs*58(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGCTCAGGACCTGCAGTGATG	0.632000													7	17					0	0	0.003080	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382377	41382377	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:41382377G>A	ENST00000377801.3	-	2	437	c.363C>T	c.(361-363)gtC>gtT	p.V121V	PLCXD3_ENST00000328457.3_Silent_p.V121V			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	121	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGCCTTCATTGACTTTGGCAC	0.433000													19	42					0	0	0.008871	0	0
FNBP4	23360	broad.mit.edu	37	11	47744803	47744803	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:47744803G>A	ENST00000263773.5	-	15	2542	c.2530C>T	c.(2530-2532)Ctt>Ttt	p.L844F		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	844										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCTGCTGGAAGGCTAACTGGT	0.458000													29	56					0	0	0.004289	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687255	68687255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:68687255G>A	ENST00000361320.4	+	2	1159	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	194						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AACCGGATCCGAAGTTTAGCC	0.468000													18	48					0	0	0.008871	0	0
MGAM	8972	broad.mit.edu	37	7	141708471	141708471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:141708471G>A	ENST00000475668.2	+	3	347	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	MGAM_ENST00000549489.2_Missense_Mutation_p.R98Q			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	98	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R98Q(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAATTGGAACGAATTAATTGC	0.403000													14	32					0	0	0.004007	0	0
NPY2R	4887	broad.mit.edu	37	4	156135434	156135434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:156135434G>A	ENST00000329476.3	+	2	832	c.343G>A	c.(343-345)Gag>Aag	p.E115K	NPY2R_ENST00000506608.1_Missense_Mutation_p.E115K	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	115					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CTTAATGGGGGAGTGGAAAAT	0.512000													12	41					0	0	0.004007	0	0
CDHR2	54825	broad.mit.edu	37	5	176002512	176002512	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:176002512C>T	ENST00000510636.1	+	10	1048	c.774C>T	c.(772-774)acC>acT	p.T258T	CDHR2_ENST00000261944.5_Silent_p.T258T|CDHR2_ENST00000506348.1_Silent_p.T258T	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	258	Cadherin 3.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCCAGGGAACCTCGGTGCTGA	0.632000													24	60					0	0	0.005443	0	0
ZIM2	23619	broad.mit.edu	37	19	57293392	57293392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:57293392G>A	ENST00000391708.3	-	10	1117	c.575C>T	c.(574-576)tCc>tTc	p.S192F	ZIM2_ENST00000601070.1_Missense_Mutation_p.S192F|ZIM2_ENST00000593711.1_Missense_Mutation_p.S192F|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.S192F|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.S192F	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		AGCACTAAGGGAACTAAGTTC	0.502000													26	53					0	0	0.005443	0	0
CYP21A2	1589	broad.mit.edu	37	6	32006290	32006290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:32006290C>T	ENST00000418967.2	+	1	249	c.91C>T	c.(91-93)Ccg>Tcg	p.P31S	CYP21A2_ENST00000435122.2_Missense_Mutation_p.P31S	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	30					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						CCTCCACCTCCCGCCTCTTGC	0.667000													13	73					0	0	0.003163	0	0
CCDC88C	440193	broad.mit.edu	37	14	91805701	91805701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:91805701G>A	ENST00000389857.6	-	8	816	c.730C>T	c.(730-732)Ctc>Ttc	p.L244F		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	244					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCGCTAGAGAGGCTGCTGGTG	0.662000													5	19					0	0	0.001984	0	0
MARS2	92935	broad.mit.edu	37	2	198570826	198570826	+	Missense_Mutation	SNP	A	A	G	rs150082953		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:198570826A>G	ENST00000282276.6	+	1	740	c.697A>G	c.(697-699)Atc>Gtc	p.I233V	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	233					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CCCTCAGGCGATCACCCCCGA	0.587000													12	32					0	0	0.001368	0	0
FAT3	120114	broad.mit.edu	37	11	92085367	92085367	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:92085367C>T	ENST00000298047.6	+	1	106	c.89C>T	c.(88-90)tCc>tTc	p.S30F	FAT3_ENST00000409404.2_Missense_Mutation_p.S30F|FAT3_ENST00000541502.1_Missense_Mutation_p.S30F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	30					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)				GCCACTGTCTCCCAGGGGCTG	0.512000										TCGA Ovarian(4;0.039)			176	446					0	0	0.003610	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178820340	178820340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:178820340C>T	ENST00000234816.2	-	6	1847	c.1400G>A	c.(1399-1401)gGa>gAa	p.G467E	RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.G467E	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	467	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						CCAGAAAATTCCATCTTGGTG	0.448000													16	28					0	0	0.006122	0	0
CNTN4	152330	broad.mit.edu	37	3	2928860	2928860	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:2928860G>A	ENST00000397461.1	+	9	1276	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	CNTN4_ENST00000427331.1_Missense_Mutation_p.E298K|CNTN4_ENST00000358480.3_Missense_Mutation_p.E79K|CNTN4_ENST00000418658.1_Missense_Mutation_p.E298K	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	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													4	16					0	0	0.000602	0	0
C15orf59	388135	broad.mit.edu	37	15	74032662	74032662	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:74032662A>T	ENST00000569673.1	-	3	1682	c.478T>A	c.(478-480)Tcc>Acc	p.S160T	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.S160T			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	160										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCCTCACTGGAGGAGTCTGGG	0.662000													19	32					0	0	0.006122	0	0
OXSR1	9943	broad.mit.edu	37	3	38289197	38289197	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:38289197C>T	ENST00000311806.3	+	14	1668	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	OXSR1_ENST00000446845.1_Silent_p.I432I	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	432					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAACCAAGATCCCAATCAGTC	0.368000													7	18					0	0	0.003080	0	0
LRTM1	57408	broad.mit.edu	37	3	54958975	54958975	+	Missense_Mutation	SNP	C	C	T	rs141303357	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:54958975C>T	ENST00000273286.5	-	2	437	c.275G>A	c.(274-276)gGa>gAa	p.G92E	CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.G16E|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	92						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ATGGAAAGCTCCAGGGGCCAG	0.463000													4	20					0	0	0.009096	0	0
ASZ1	136991	broad.mit.edu	37	7	117003787	117003787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:117003787C>T	ENST00000284629.2	-	13	1353	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	431					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GGATCATTTTCCCGTTCATTT	0.284000													6	18					0	0	0.001168	0	0
WNT10A	80326	broad.mit.edu	37	2	219746962	219746962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:219746962C>T	ENST00000258411.3	+	2	826	c.193C>T	c.(193-195)Cca>Tca	p.P65S		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	65					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTAACATTGCCAGGCCTGAG	0.607000													17	32					0	0	0.004990	0	0
TRIML2	205860	broad.mit.edu	37	4	189026057	189026057	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:189026057C>T	ENST00000512729.1	-	2	443	c.69G>A	c.(67-69)tcG>tcA	p.S23S	TRIML2_ENST00000326754.3_Silent_p.S23S|TRIML2_ENST00000536972.1_Silent_p.S73S	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	23							ligase activity	p.S23S(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GTTTCTCCCTCGATGTGTTCA	0.403000													20	41					0	0	0.008871	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677598	37677598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:37677598G>A	ENST00000532828.2	-	5	1092	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Nonsense_Mutation_p.Q226*|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGTTTTCTGGATGAAGGCC	0.413000													32	100					0	0	0.003755	0	0
TTN	7273	broad.mit.edu	37	2	179579150	179579150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179579150C>T	ENST00000589042.1	-	91	26575	c.26351G>A	c.(26350-26352)tGg>tAg	p.W8784*	TTN_ENST00000342992.6_Nonsense_Mutation_p.W7540*|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W8467*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8467	Ig-like 70.						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)			ATAAGAAATCCATATGTTGTC	0.408000													12	26					0	0	0.001368	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606491	84606491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:84606491C>T	ENST00000344803.2	+	4	1153	c.1106C>T	c.(1105-1107)tCt>tTt	p.S369F		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCTTTTTCCTCTAATTTTGTG	0.483000													11	39					0	0	0.008291	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762670	24762670	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:24762670A>C	ENST00000376451.2	+	2	774	c.514A>C	c.(514-516)Aaa>Caa	p.K172Q	KIAA1217_ENST00000376462.1_Missense_Mutation_p.K374Q|KIAA1217_ENST00000307544.6_Missense_Mutation_p.K172Q|KIAA1217_ENST00000376452.3_Missense_Mutation_p.K454Q|KIAA1217_ENST00000376454.3_Missense_Mutation_p.K454Q|KIAA1217_ENST00000458595.1_Missense_Mutation_p.K454Q|KIAA1217_ENST00000396445.1_Missense_Mutation_p.K172Q|KIAA1217_ENST00000396446.1_Missense_Mutation_p.K172Q|KIAA1217_ENST00000430453.2_Missense_Mutation_p.K375Q			Q5T5P2	SKT_HUMAN	KIAA1217	454					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GTACAGACAGAAATCAAGGAA	0.493000													10	31					0	0	0.008291	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765916	18765916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:18765916G>A	ENST00000304081.4	-	4	687	c.587C>T	c.(586-588)tCc>tTc	p.S196F	NT5C1B_ENST00000359846.2_Missense_Mutation_p.S256F|NT5C1B_ENST00000600945.1_Missense_Mutation_p.S256F|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.S256F	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CAGCTGGGTGGAGGCGGGGTA	0.657000													6	14					0	0	0.003080	0	0
DUOX2	50506	broad.mit.edu	37	15	45399629	45399629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:45399629C>T	ENST00000389039.6	-	14	1992	c.1607G>A	c.(1606-1608)cGa>cAa	p.R536Q	DUOX2_ENST00000603300.1_Missense_Mutation_p.R536Q			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	536	Peroxidase-like; mediates peroxidase activity (By similarity).				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	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|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)		GGTGGTATTTCGGATGTCTTC	0.557000													23	51					0	0	0.002299	0	0
C5AR1	728	broad.mit.edu	37	19	47823062	47823062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:47823062G>A	ENST00000355085.3	+	2	50	c.28G>A	c.(28-30)Gat>Aat	p.D10N		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	10					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TACCACCCCTGATTATGGGCA	0.532000													16	39					0	0	0.004990	0	0
PLCE1	51196	broad.mit.edu	37	10	95791437	95791437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:95791437G>A	ENST00000260766.3	+	2	1268	c.634G>A	c.(634-636)Gat>Aat	p.D212N	PLCE1_ENST00000371380.2_Missense_Mutation_p.D212N	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	212					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.D212N(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AATTTTAGACGATTGTGGAAA	0.388000													8	16					0	0	0.004482	0	0
KRT76	51350	broad.mit.edu	37	12	53169379	53169379	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:53169379A>T	ENST00000332411.2	-	2	661	c.608T>A	c.(607-609)tTc>tAc	p.F203Y		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	203	Coil 1A.|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						CTGTTCCAGGAACCGCACCTG	0.572000													26	51					0	0	0.003954	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161161968	161161968	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:161161968G>A	ENST00000367996.4	-	8	2402	c.1974C>T	c.(1972-1974)atC>atT	p.I658I		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	658	Cys-rich.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCCAGCATGGATGCATCGGC	0.562000											OREG0013940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	21					0	0	0.003163	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790170	133790170	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:133790170G>A	ENST00000321016.8	-	18	3680	c.3450C>T	c.(3448-3450)ccC>ccT	p.P1150P	IGSF9B_ENST00000533871.2_Silent_p.P1150P			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1150	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CAGCCGGCTCGGGGTAAGGCA	0.687000													24	48					0	0	0.003954	0	0
DNAH2	146754	broad.mit.edu	37	17	7664188	7664188	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:7664188C>T	ENST00000572933.1	+	18	4376	c.2916C>T	c.(2914-2916)tcC>tcT	p.S972S	DNAH2_ENST00000389173.2_Silent_p.S972S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	972	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACAAGGACTCCTTCATTCATC	0.532000													23	38					0	0	0.003954	0	0
BDKRB2	624	broad.mit.edu	37	14	96703495	96703495	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:96703495C>T	ENST00000306005.3	+	2	247	c.51C>T	c.(49-51)tcC>tcT	p.S17S	BDKRB2_ENST00000554311.1_Silent_p.S17S|BDKRB2_ENST00000539359.1_5'UTR|RP11-404P21.8_ENST00000553811.1_Silent_p.S17S|BDKRB2_ENST00000542454.2_5'UTR	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	17					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GTGAGGACTCCGTGCCCACCA	0.532000													30	48					0	0	0.002445	0	0
ATP8A1	10396	broad.mit.edu	37	4	42592857	42592857	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:42592857G>A	ENST00000381668.5	-	7	726	c.495C>T	c.(493-495)ctC>ctT	p.L165L	ATP8A1_ENST00000264449.10_Intron	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	165					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GATCTGCTGGGAGATGTTCCC	0.458000													28	50					0	0	0.003271	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033105	20033105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:20033105G>A	ENST00000377340.2	-	2	396	c.365C>T	c.(364-366)cCg>cTg	p.P122L	CRNKL1_ENST00000377327.4_Missense_Mutation_p.P110L|CRNKL1_ENST00000536226.1_5'UTR	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	122					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AACCGGAAGCGGAACTTGCAG	0.597000													19	43					0	0	0.002780	0	0
BMPR1B	658	broad.mit.edu	37	4	96036848	96036848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:96036848C>T	ENST00000515059.1	+	6	542	c.259C>T	c.(259-261)Cct>Tct	p.P87S	BMPR1B_ENST00000502683.1_Silent_p.F88F|BMPR1B_ENST00000394931.1_Missense_Mutation_p.P87S|BMPR1B_ENST00000264568.4_Missense_Mutation_p.P87S|BMPR1B_ENST00000440890.2_Missense_Mutation_p.P117S	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	87					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CACTCCCATTCCTCATCAAAG	0.363000													14	59					0	0	0.004007	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711613	155711613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:155711613G>A	ENST00000295101.2	+	3	1771	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	432					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CAGCTTGGGAGACTTGCCCAT	0.413000													16	47					0	0	0.004990	0	0
C1orf109	54955	broad.mit.edu	37	1	38155298	38155298	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:38155298C>T	ENST00000358011.4	-	2	444	c.255G>A	c.(253-255)ctG>ctA	p.L85L	C1orf109_ENST00000494120.1_Intron	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109	85										lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				CTAGCTTGTCCAGGACGATGT	0.522000													30	70					0	0	0.004878	0	0
OR8B3	390271	broad.mit.edu	37	11	124266627	124266627	+	Silent	SNP	G	G	A	rs144139982		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:124266627G>A	ENST00000354597.3	-	1	637	c.621C>T	c.(619-621)atC>atT	p.I207I		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I207I(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		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;0.0277)		TGGGTACCATGATATTAATAC	0.418000													38	101					0	0	0.004289	0	0
CDH12	1010	broad.mit.edu	37	5	22078763	22078763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:22078763G>A	ENST00000382254.1	-	5	1109	c.23C>T	c.(22-24)tCc>tTc	p.S8F	CDH12_ENST00000504376.2_Missense_Mutation_p.S8F|CDH12_ENST00000522262.1_Missense_Mutation_p.S8F	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	8					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GAGAAGCAGGGATAAACAGTT	0.438000										HNSCC(59;0.17)			30	68					0	0	0.006320	0	0
DMXL1	1657	broad.mit.edu	37	5	118485868	118485868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:118485868C>T	ENST00000311085.8	+	18	4426	c.4346C>T	c.(4345-4347)aCt>aTt	p.T1449I	DMXL1_ENST00000539542.1_Missense_Mutation_p.T1449I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1449										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTTTTTCAGACTCAACTTCTA	0.338000													9	24					0	0	0.004482	0	0
SLAIN1	122060	broad.mit.edu	37	13	78293711	78293711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:78293711C>T	ENST00000466548.1	+	3	631	c.605C>T	c.(604-606)tCc>tTc	p.S202F	SLAIN1_ENST00000488699.1_Missense_Mutation_p.S60F|SLAIN1_ENST00000418532.1_5'UTR	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	202										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TCAGAGAAATCCCTGACTCCT	0.418000													8	32					0	0	0.003080	0	0
AIFM3	150209	broad.mit.edu	37	22	21328912	21328912	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:21328912T>C	ENST00000399167.2	+	7	847		c.e7+2		AIFM3_ENST00000399163.2_Splice_Site|AIFM3_ENST00000405089.1_Splice_Site|AIFM3_ENST00000440238.2_Splice_Site|AIFM3_ENST00000333607.6_Splice_Site|AIFM3_ENST00000335375.5_Splice_Site|AIFM3_ENST00000465606.1_Splice_Site	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGGTGCAGGTTGGTAGTGGG	0.602000													9	24					0	0	0.004482	0	0
RPH3A	22895	broad.mit.edu	37	12	113327831	113327831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:113327831G>A	ENST00000389385.4	+	18	2063	c.1566G>A	c.(1564-1566)atG>atA	p.M522I	RPH3A_ENST00000420983.2_Missense_Mutation_p.M522I|RPH3A_ENST00000548866.1_Missense_Mutation_p.M473I|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Missense_Mutation_p.M522I|RPH3A_ENST00000551052.1_Missense_Mutation_p.M518I|RPH3A_ENST00000447659.2_Missense_Mutation_p.M473I|RPH3A_ENST00000415485.3_Missense_Mutation_p.M522I	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	522					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CTTTTAAGATGAAACGTGCTG	0.483000													49	123					0	0	0.003610	0	0
ADCK2	90956	broad.mit.edu	37	7	140389516	140389516	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:140389516C>T	ENST00000072869.4	+	6	1855	c.1677C>T	c.(1675-1677)acC>acT	p.T559T	ADCK2_ENST00000476491.1_Silent_p.T559T	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	559	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					ACACCATCACCCTGGAGAAGG	0.607000													7	17					0	0	0.001984	0	0
KLHL12	59349	broad.mit.edu	37	1	202862461	202862461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:202862461G>A	ENST00000367261.3	-	11	1704	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	KLHL12_ENST00000367259.1_Intron|KLHL12_ENST00000435533.3_Missense_Mutation_p.R534C	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	496	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAATCAGTGCGAATGTTGTAT	0.522000													37	85					0	0	0.004289	0	0
OR2K2	26248	broad.mit.edu	37	9	114090048	114090048	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:114090048G>A	ENST00000374428.1	-	1	752	c.753C>T	c.(751-753)tcC>tcT	p.S251S	OR2K2_ENST00000302681.1_Silent_p.S222S			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TCAGAATAGTGGAAAGGATGA	0.453000													7	17					0	0	0.003080	0	0
KIF19	124602	broad.mit.edu	37	17	72338108	72338108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:72338108G>A	ENST00000389916.4	+	3	352	c.214G>A	c.(214-216)Gac>Aac	p.D72N		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	72	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CGTGGCCTTTGACTTCACCGC	0.662000													33	134					0	0	0.002836	0	0
NLRP10	338322	broad.mit.edu	37	11	7984979	7984979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:7984979C>T	ENST00000328600.2	-	1	225	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	22	DAPIN.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAATCGTTCTCCTCAAGGTCA	0.567000													7	29					0	0	0.004482	0	0
FREM1	158326	broad.mit.edu	37	9	14792826	14792826	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:14792826A>C	ENST00000380881.4	-	23	4714	c.3899T>G	c.(3898-3900)cTt>cGt	p.L1300R	FREM1_ENST00000380880.3_Missense_Mutation_p.L1299R|FREM1_ENST00000422223.2_Missense_Mutation_p.L1299R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1299					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TATGGCTGAAAGAATAGCACT	0.363000													4	3					0	0	0.009096	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077634	32077634	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:32077634G>A	ENST00000354689.6	+	0	249				RP11-1166P10.6_ENST00000566806.1_RNA																							ATCTGCAAATGAACAGCCTGA	0.512000													55	314					0	0	0.003610	0	0
BAGE2	85319	broad.mit.edu	37	21	11039096	11039096	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:11039096C>T	ENST00000470054.1	-	0	1107									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCCTTTTCTCCTTGTAGCCT	0.398000													10	222					0	0	0.001855	0	0
ADAM7	8756	broad.mit.edu	37	8	24299996	24299996	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:24299996C>T	ENST00000175238.6	+	2	146	c.63C>T	c.(61-63)atC>atT	p.I21I	ADAM7_ENST00000380789.1_Silent_p.I21I|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Silent_p.I21I|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	21					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAAAGTTCATCCTTGGAGTAG	0.408000													28	86					0	0	0.008361	0	0
MRE11A	4361	broad.mit.edu	37	11	94204874	94204874	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:94204874G>A	ENST00000323929.3	-	8	933	c.711C>T	c.(709-711)ttC>ttT	p.F237F	MRE11A_ENST00000393241.4_Silent_p.F237F|MRE11A_ENST00000407439.3_Silent_p.F240F|MRE11A_ENST00000323977.3_Silent_p.F237F	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	237			F -> C (in a breast cancer sample; somatic mutation).		DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CAAGATCAATGAAGTCATCCA	0.343000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				15	22					0	0	0.003163	0	0
SNTG2	54221	broad.mit.edu	37	2	1271191	1271191	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:1271191G>A	ENST00000308624.5	+	14	1261	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	SNTG2_ENST00000407292.1_Missense_Mutation_p.D251N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	378	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GGGTCTTCAAGATTTTGACTT	0.522000													4	11					0	0	0.009096	0	0
EPHB1	2047	broad.mit.edu	37	3	134851570	134851570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:134851570C>T	ENST00000398015.3	+	5	1346	c.976C>T	c.(976-978)Ccc>Tcc	p.P326S	EPHB1_ENST00000488154.1_3'UTR|EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	326	Fibronectin type-III 1.					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						CCCATCAGGTCCCCGCAATGT	0.547000													4	15					0	0	0.009096	0	0
OR5D13	390142	broad.mit.edu	37	11	55541018	55541018	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:55541018C>T	ENST00000361760.1	+	1	105	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTTTCTTGTTCGTCTACACAG	0.398000													22	41					0	0	0.001882	0	0
NACA	4666	broad.mit.edu	37	12	57110418	57110418	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:57110418G>A	ENST00000454682.1	-	3	5177	c.4896C>T	c.(4894-4896)gcC>gcT	p.A1632A	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCCCTTTGGGGGCTGGAGTTG	0.577000			T	BCL6	NHL								9	19					0	0	0.004482	0	0
DPPA4	55211	broad.mit.edu	37	3	109049624	109049624	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:109049624C>T	ENST00000335658.6	-	5	480	c.426G>A	c.(424-426)cgG>cgA	p.R142R	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	142						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GCAATGATTTCCGGATTTTGG	0.393000													10	22					0	0	0.008291	0	0
LAMA4	3910	broad.mit.edu	37	6	112454586	112454586	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:112454586G>A	ENST00000230538.7	-	27	4058	c.3661C>T	c.(3661-3663)Ctg>Ttg	p.L1221L	LAMA4_ENST00000424408.2_Silent_p.L1214L|LAMA4_ENST00000522006.1_Silent_p.L1214L|LAMA4_ENST00000389463.4_Silent_p.L1214L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1221	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCAACTCCCAGGGTTTCTGTC	0.433000													11	68					0	0	0.000978	0	0
USP47	55031	broad.mit.edu	37	11	11919184	11919184	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:11919184G>A	ENST00000339865.5	+	4	1096	c.333G>A	c.(331-333)ttG>ttA	p.L111L	USP47_ENST00000399455.2_Silent_p.L199L|USP47_ENST00000527733.1_Silent_p.L179L|USP47_ENST00000539466.1_5'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	199					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CTTGCTATTTGAATAGCCTTT	0.259000													19	41					0	0	0.001882	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209184997	209184997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:209184997C>T	ENST00000264380.4	+	17	2262	c.2104C>T	c.(2104-2106)Ccc>Tcc	p.P702S		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	702					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						TATTAAAAACCCCAAAATTCT	0.303000													15	55					0	0	0.003163	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835238	12835238	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:12835238G>A	ENST00000357726.4	+	1	255	c.228G>A	c.(226-228)gaG>gaA	p.E76E		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	76										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTAATCTAGAGATCTTTCGAG	0.577000													22	45					0	0	0.003330	0	0
PTPRD	5789	broad.mit.edu	37	9	8521361	8521361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:8521361C>T	ENST00000381196.4	-	17	1420	c.877G>A	c.(877-879)Gat>Aat	p.D293N	PTPRD_ENST00000397606.3_Missense_Mutation_p.D283N|PTPRD_ENST00000355233.5_Missense_Mutation_p.D293N|PTPRD_ENST00000397611.3_Missense_Mutation_p.D290N|PTPRD_ENST00000358503.5_Missense_Mutation_p.D280N|PTPRD_ENST00000540109.1_Missense_Mutation_p.D293N|PTPRD_ENST00000537002.1_Missense_Mutation_p.D290N|PTPRD_ENST00000356435.5_Missense_Mutation_p.D293N|PTPRD_ENST00000486161.1_Missense_Mutation_p.D293N|PTPRD_ENST00000397617.3_Missense_Mutation_p.D283N|PTPRD_ENST00000360074.4_Missense_Mutation_p.D280N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	293	Ig-like C2-type 3.				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)		TGTCTTACATCATTCAGTTCT	0.433000										TSP Lung(15;0.13)			14	22					0	0	0.003163	0	0
OR7G1	125962	broad.mit.edu	37	19	9225705	9225705	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9225705G>A	ENST00000293614.1	-	1	734	c.735C>T	c.(733-735)ctC>ctT	p.L245L	OR7G1_ENST00000541538.1_Silent_p.L245L			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AAAAAACAGAGAGGTGACAGC	0.428000													7	13					0	0	0.001984	0	0
ABHD6	57406	broad.mit.edu	37	3	58271159	58271159	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:58271159C>T	ENST00000478253.1	+	9	1317	c.816C>T	c.(814-816)atC>atT	p.I272I	ABHD6_ENST00000295962.4_Silent_p.I272I			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	272						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CGACGCAGATCATCTGGGGGA	0.483000													14	44					0	0	0.003163	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169087	32169087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:32169087C>T	ENST00000375023.3	-	22	4084	c.3946G>A	c.(3946-3948)Gcc>Acc	p.A1316T		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1316					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGCACCCGGGCCAGGGCAAAC	0.647000													70	241					0	0	0.003610	0	0
MERTK	10461	broad.mit.edu	37	2	112761519	112761519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:112761519G>A	ENST00000295408.4	+	13	2082	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	MERTK_ENST00000421804.2_Missense_Mutation_p.E609K|MERTK_ENST00000409780.1_Missense_Mutation_p.E433K			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	609	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TCTTAAGCAGGAAGATGGGAC	0.463000													11	40					0	0	0.008291	0	0
OR2D3	120775	broad.mit.edu	37	11	6942260	6942260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:6942260G>A	ENST00000317834.3	+	1	56	c.28G>A	c.(28-30)Ggt>Agt	p.G10S		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGCCAAACAGGTAAACAGGC	0.398000													6	24					0	0	0.001168	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075529	76075529	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:76075529G>A	ENST00000395215.3	+	0	1169																											gcgaaagcaggaaaagaggct	0.607000													42	92					0	0	0.002522	0	0
TG	7038	broad.mit.edu	37	8	133895059	133895059	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:133895059G>A	ENST00000220616.4	+	8	930	c.889_splice	c.e8-1	p.C297_splice	TG_ENST00000377869.1_Splice_Site_p.C297_splice	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	297	Thyroglobulin type-1 3.				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)		TTTCCTCTAGGCCCCACAAAA	0.498000													10	27					0	0	0.000978	0	0
FOLR1	2348	broad.mit.edu	37	11	71906446	71906446	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:71906446C>T	ENST00000393679.1	+	3	736	c.300C>T	c.(298-300)ttC>ttT	p.F100F	FOLR1_ENST00000393676.3_Silent_p.F100F|FOLR1_ENST00000393681.2_Silent_p.F100F|FOLR1_ENST00000312293.4_Silent_p.F100F|RP11-807H22.7_ENST00000378140.3_RNA			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	100					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						AACGGCATTTCATCCAGGACA	0.547000													36	111					0	0	0.008740	0	0
ZNF207	7756	broad.mit.edu	37	17	30694883	30694883	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:30694883C>T	ENST00000394670.4	+	10	1183	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	ZNF207_ENST00000342555.6_Silent_p.F341F|ZNF207_ENST00000341711.6_Silent_p.F239F|ZNF207_ENST00000394673.2_Silent_p.F307F|ZNF207_ENST00000321233.6_Silent_p.F322F|ZNF207_ENST00000577908.1_Silent_p.F338F	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	322						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AGCCTACATTCCCTGCTTATA	0.438000													25	31					0	0	0.003330	0	0
MECR	51102	broad.mit.edu	37	1	29542634	29542634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:29542634G>A	ENST00000373791.3	-	3	433	c.61C>T	c.(61-63)Ctt>Ttt	p.L21F	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Missense_Mutation_p.L97F	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	97					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		AGTTCAGGAAGGAATCCGTAG	0.552000													11	47					0	0	0.000978	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2027448	2027448	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:2027448G>A	ENST00000382722.5	-	1	554	c.192C>T	c.(190-192)tcC>tcT	p.S64S	CACNA2D4_ENST00000586184.1_Silent_p.S64S|RP5-1096D14.3_ENST00000544163.1_RNA|CACNA2D4_ENST00000587995.1_Silent_p.S64S|CACNA2D4_ENST00000585732.1_Silent_p.S64S	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	64						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)		CCCACGCAGGGGACAGGGAGG	0.622000													3	11					0	0	0.004672	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711179	140711179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140711179G>A	ENST00000517417.1	+	1	928	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E310K	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTAGATTTCGAAGAATACAA	0.373000													10	15					0	0	0.006214	0	0
SALL2	6297	broad.mit.edu	37	14	21993173	21993173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:21993173C>T	ENST00000327430.3	-	2	983	c.689G>A	c.(688-690)gGg>gAg	p.G230E	SALL2_ENST00000450879.2_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	230							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		AGAGGCAGTCCCTGTCCCAGG	0.592000													12	29					0	0	0.001368	0	0
APOB	338	broad.mit.edu	37	2	21229685	21229685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:21229685G>A	ENST00000233242.1	-	26	10182	c.10055C>T	c.(10054-10056)aCc>aTc	p.T3352I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3352					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCAGCATTGGTATTCAGTGT	0.373000													109	266					0	0	0.003610	0	0
LRWD1	222229	broad.mit.edu	37	7	102110281	102110281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:102110281G>A	ENST00000292616.5	+	11	1546	c.1394G>A	c.(1393-1395)gGc>gAc	p.G465D		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	465					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GGCTGCGAGGGCGGCTGCTGC	0.711000													9	25					0	0	0.006214	0	0
ANO4	121601	broad.mit.edu	37	12	101295517	101295517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:101295517C>T	ENST00000538618.1	+	4	452	c.452C>T	c.(451-453)cCt>cTt	p.P151L	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000392979.3_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	0						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						CGTCGCCTGCCTGTGGTCAGG	0.498000										HNSCC(74;0.22)			19	38					0	0	0.006122	0	0
BAGE2	85319	broad.mit.edu	37	21	11039296	11039296	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:11039296G>A	ENST00000470054.1	-	0	907									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGTGTGTAACGACTTCAATGT	0.388000													5	175					0	0	0.001984	0	0
PSG5	5673	broad.mit.edu	37	19	43689225	43689225	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:43689225C>T	ENST00000404580.1	-	2	227	c.139G>A	c.(139-141)Gag>Aag	p.E47K	PSG5_ENST00000407568.1_Missense_Mutation_p.E47K|PSG5_ENST00000407356.1_Missense_Mutation_p.E47K|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000599812.1_Missense_Mutation_p.E47K|PSG5_ENST00000342951.6_Missense_Mutation_p.E47K|PSG5_ENST00000366175.3_Missense_Mutation_p.E47K			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	47	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TCCTTCCCCTCGGAAACTTTG	0.468000													46	86					0	0	0.003610	0	0
ENPP4	22875	broad.mit.edu	37	6	46107806	46107806	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:46107806A>T	ENST00000321037.4	+	2	716	c.486A>T	c.(484-486)gaA>gaT	p.E162D		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	162						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CATTTGAGGAAAGACTAAATA	0.413000													15	53					0	0	0.003163	0	0
CELSR1	9620	broad.mit.edu	37	22	46860109	46860109	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:46860109G>A	ENST00000262738.3	-	2	3677	c.3678C>T	c.(3676-3678)ctC>ctT	p.L1226L	CELSR1_ENST00000395964.1_Silent_p.L1226L	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1226					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCTCCACGAAGAGGGCCAGCA	0.602000													20	29					0	0	0.010504	0	0
OR5H6	79295	broad.mit.edu	37	3	97983875	97983875	+	Silent	SNP	G	G	A	rs146320551		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:97983875G>A	ENST00000383696.2	+	1	788	c.747G>A	c.(745-747)ggG>ggA	p.G249G	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G249G(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTATCAAAGGGATACGAAAAG	0.388000													5	25					0	0	0.001168	0	0
COL11A2	1302	broad.mit.edu	37	6	33134889	33134889	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:33134889C>T	ENST00000341947.2	-	58	4415	c.4188G>A	c.(4186-4188)ggG>ggA	p.G1396G	COL11A2_ENST00000374713.1_Silent_p.G1349G|COL11A2_ENST00000395197.1_Silent_p.G1336G|COL11A2_ENST00000357486.1_Silent_p.G1375G|COL11A2_ENST00000374714.1_Silent_p.G1370G|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Silent_p.G1289G|COL11A2_ENST00000374712.1_Silent_p.G1315G|COL11A2_ENST00000374708.4_Silent_p.G1310G	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1396	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GACCAGGCAGCCCTGGGGGTC	0.607000													13	39					0	0	0.004990	0	0
ASTN2	23245	broad.mit.edu	37	9	119738420	119738420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:119738420C>T	ENST00000313400.4	-	9	1824	c.1724G>A	c.(1723-1725)gGg>gAg	p.G575E	ASTN2_ENST00000361209.2_Missense_Mutation_p.G524E|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.G575E			O75129	ASTN2_HUMAN	astrotactin 2	575						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						GGCTTGCTCCCCTGTCACCAG	0.498000													15	44					0	0	0.010504	0	0
MUC16	94025	broad.mit.edu	37	19	9086150	9086150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9086150C>T	ENST00000397910.4	-	1	5868	c.5665G>A	c.(5665-5667)Gga>Aga	p.G1889R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1889	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						GTGCTGTTTCCCATAGACAGG	0.502000													11	31					0	0	0.000978	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12819328	12819328	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:12819328G>A	ENST00000379672.5	+	5	687	c.387_splice	c.e5+1	p.E129_splice	ARHGAP44_ENST00000340825.3_Splice_Site_p.E129_splice|ARHGAP44_ENST00000262444.9_Splice_Site_p.E129_splice	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	129	BAR.				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						TGCTGGCGGAGGTAAGCAGCA	0.512000													12	14					0	0	0.001855	0	0
KLRK1	22914	broad.mit.edu	37	12	10532306	10532306	+	Silent	SNP	G	G	A	rs148179014		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:10532306G>A	ENST00000240618.6	-	4	374	c.234C>T	c.(232-234)ttC>ttT	p.F78F	KLRK1_ENST00000540818.1_Silent_p.F78F|RP11-277P12.20_ENST00000500682.1_RNA|KLRC4-KLRK1_ENST00000539300.1_3'UTR	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	78					natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TACAGTTTAGGAATACAGCAC	0.328000													4	35					0	0	0.009096	0	0
GPR98	84059	broad.mit.edu	37	5	89992916	89992916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:89992916G>A	ENST00000405460.2	+	34	8204	c.8108G>A	c.(8107-8109)gGa>gAa	p.G2703E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2703					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATGTGGCAGGAATTGTTAGC	0.393000													33	66					0	0	0.007835	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160273928	160273928	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:160273928G>A	ENST00000264431.4	+	21	3893	c.3474G>A	c.(3472-3474)tcG>tcA	p.S1158S		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1158	Ser-rich.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTAGCAATTCGTCTTTTGACT	0.483000													15	28					0	0	0.004990	0	0
CD109	135228	broad.mit.edu	37	6	74528148	74528148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:74528148G>A	ENST00000437994.2	+	31	4329	c.3898G>A	c.(3898-3900)Gaa>Aaa	p.E1300K	CD109_ENST00000287097.5_Missense_Mutation_p.E1317K|CD109_ENST00000422508.2_Missense_Mutation_p.E1240K	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1317						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCTCTTATGGAAGTTAACCT	0.423000													7	44					0	0	0.001984	0	0
CCDC87	55231	broad.mit.edu	37	11	66359889	66359889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:66359889G>A	ENST00000333861.3	-	1	665	c.598C>T	c.(598-600)Ccc>Tcc	p.P200S		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	200										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GTCCCAGCGGGGCAGACAGGG	0.607000													9	25					0	0	0.008291	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814062	106814062	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:106814062C>T	ENST00000407775.2	+	8	2002	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	ZFPM2_ENST00000520492.1_Silent_p.F452F|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Silent_p.F452F|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.F315F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	584					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)			CCCCAGAGTTCCCTAGTGTGT	0.443000													42	78					0	0	0.003610	0	0
DPH1	1801	broad.mit.edu	37	17	1943834	1943834	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:1943834C>T	ENST00000263083.6	+	9	1002	c.957C>T	c.(955-957)tcC>tcT	p.S319S	DPH1_ENST00000570477.1_Silent_p.S239S	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	319					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						TGGGCCTTTCCTTTGTGAGGC	0.567000													19	42					0	0	0.010504	0	0
SEC14L3	266629	broad.mit.edu	37	22	30857339	30857339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:30857339C>T	ENST00000403066.1	-	12	1145	c.862G>A	c.(862-864)Gtg>Atg	p.V288M	SEC14L3_ENST00000215812.4_Missense_Mutation_p.V347M|SEC14L3_ENST00000540910.1_Missense_Mutation_p.V270M|SEC14L3_ENST00000539629.1_Missense_Mutation_p.V288M|SEC14L3_ENST00000415957.2_Missense_Mutation_p.V288M|SEC14L3_ENST00000402286.1_Missense_Mutation_p.V270M|SEC14L3_ENST00000401751.1_Missense_Mutation_p.V288M			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	347	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TCCTCGGGCACCATGTGGGCG	0.607000													19	59					0	0	0.007413	0	0
SYNE1	23345	broad.mit.edu	37	6	152542123	152542123	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:152542123G>A	ENST00000367255.5	-	119	22316	c.21715C>T	c.(21715-21717)Cag>Tag	p.Q7239*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q6851*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q7168*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q7239*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.Q1763*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q7168*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7239					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCCAAAGCTGAAGTAGGGCC	0.468000										HNSCC(10;0.0054)			16	63					0	0	0.004007	0	0
RAVER2	55225	broad.mit.edu	37	1	65243731	65243731	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:65243731C>T	ENST00000294428.3	+	3	820	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	RAVER2_ENST00000371072.4_Silent_p.L248L			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	248	RRM 3.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TTCAGAAGAGCTGTTGCAAAT	0.333000													20	31					0	0	0.002780	0	0
CD109	135228	broad.mit.edu	37	6	74512972	74512972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:74512972G>A	ENST00000437994.2	+	24	3339	c.2908G>A	c.(2908-2910)Gaa>Aaa	p.E970K	CD109_ENST00000474094.1_3'UTR|CD109_ENST00000287097.5_Missense_Mutation_p.E970K|CD109_ENST00000422508.2_Missense_Mutation_p.E893K	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	970						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTATCAGAGGGAAGATGGCTC	0.393000													11	56					0	0	0.002450	0	0
LLGL1	3996	broad.mit.edu	37	17	18143908	18143908	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:18143908C>T	ENST00000316843.4	+	17	2319	c.2223C>T	c.(2221-2223)ccC>ccT	p.P741P		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	741					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					ACCACGGGCCCACCATGTGGG	0.662000													39	116					0	0	0.002522	0	0
C20orf141	128653	broad.mit.edu	37	20	2796252	2796252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:2796252G>A	ENST00000380589.4	+	2	503	c.329G>A	c.(328-330)gGt>gAt	p.G110D	TMEM239_ENST00000554164.1_Intron|C20orf141_ENST00000603872.1_Missense_Mutation_p.G110D|TMEM239_ENST00000380593.4_Intron	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	110	Leu-rich.					integral to membrane				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						GCCGGTGAAGGTCCTGGACAG	0.627000													7	19					0	0	0.001984	0	0
TONSL	4796	broad.mit.edu	37	8	145662289	145662289	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:145662289G>A	ENST00000409379.3	-	15	1770	c.1741C>T	c.(1741-1743)Ctg>Ttg	p.L581L	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	581					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						TGGTCCAGCAGGAAGCGGACA	0.667000													17	48					0	0	0.004990	0	0
OR2B2	81697	broad.mit.edu	37	6	27879944	27879944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:27879944C>T	ENST00000303324.2	-	1	230	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AGTTTGAAATCCACATGTGAC	0.393000													7	36					0	0	0.001984	0	0
CACNA1B	774	broad.mit.edu	37	9	140938267	140938267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:140938267G>A	ENST00000277549.5	+	21	3473	c.904G>A	c.(904-906)Gag>Aag	p.E302K	CACNA1B_ENST00000277551.2_Missense_Mutation_p.E1110K|CACNA1B_ENST00000545473.1_Missense_Mutation_p.E136K|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E1111K|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E1111K|CACNA1B_ENST00000371372.1_Missense_Mutation_p.E1110K|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E1110K			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1110					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGGGAAGAAGGAGGTGGAAGC	0.587000													37	94					0	0	0.004289	0	0
RGS11	8786	broad.mit.edu	37	16	321421	321421	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:321421C>T	ENST00000397770.3	-	11	743	c.726G>A	c.(724-726)gtG>gtA	p.V242V	RGS11_ENST00000359740.5_Silent_p.V231V|RGS11_ENST00000316163.5_Silent_p.V221V|ARHGDIG_ENST00000464609.1_Intron			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	242	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CGGAGGACTTCACTCGGGTCC	0.662000													8	21					0	0	0.004482	0	0
OR4C46	119749	broad.mit.edu	37	11	51515548	51515548	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:51515548C>T	ENST00000328188.1	+	1	267	c.267C>T	c.(265-267)gcC>gcT	p.A89A		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GAAAGAAGGCCATCCTATTCA	0.463000													29	74					0	0	0.007291	0	0
ZNF484	83744	broad.mit.edu	37	9	95609601	95609601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:95609601G>A	ENST00000395505.2	-	3	1452	c.1360C>T	c.(1360-1362)Cat>Tat	p.H454Y	ZNF484_ENST00000375495.3_Missense_Mutation_p.H490Y|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.H454Y|ZNF484_ENST00000395506.3_Missense_Mutation_p.H492Y	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCTCCTGTATGAATTTTCTGG	0.393000													14	31					0	0	0.001855	0	0
C1orf109	54955	broad.mit.edu	37	1	38155297	38155297	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:38155297C>A	ENST00000358011.4	-	2	445	c.256G>T	c.(256-258)Gac>Tac	p.D86Y	C1orf109_ENST00000494120.1_Intron	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109	86										lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				CCTAGCTTGTCCAGGACGATG	0.517000													30	69					6.70999e-13	6.91912e-13	0.004289	1	0
ATP13A5	344905	broad.mit.edu	37	3	193081082	193081082	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:193081082G>A	ENST00000342358.4	-	3	444	c.327C>T	c.(325-327)tcC>tcT	p.S109S		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	109					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGCCACCAGGGATTCTTCCC	0.408000													11	50					0	0	0.008291	0	0
VPS53	55275	broad.mit.edu	37	17	613784	613784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:613784G>A	ENST00000437048.2	-	2	303	c.157C>T	c.(157-159)Cca>Tca	p.P53S	VPS53_ENST00000291074.5_Missense_Mutation_p.P53S|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000571805.1_Missense_Mutation_p.P53S|VPS53_ENST00000574029.1_Missense_Mutation_p.P53S|VPS53_ENST00000401468.3_Missense_Mutation_p.P53S	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	53					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TGCTCGGTTGGGAACAGGGTA	0.418000													16	34					0	0	0.008871	0	0
C1orf173	127254	broad.mit.edu	37	1	75038256	75038256	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:75038256C>T	ENST00000326665.5	-	14	3356	c.3138G>A	c.(3136-3138)agG>agA	p.R1046R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1046	Glu-rich.							p.R1046S(1)		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						AAATTTCTTTCCTATCATCTT	0.453000													32	82					0	0	0.003755	0	0
XIRP2	129446	broad.mit.edu	37	2	168107877	168107877	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:168107877C>T	ENST00000409195.1	+	9	10064	c.9975C>T	c.(9973-9975)ttC>ttT	p.F3325F	XIRP2_ENST00000295237.9_Silent_p.F3325F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.F3103F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3150					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						CTGAAAATTTCGTGAATGACC	0.448000													13	40					0	0	0.001855	0	0
SCN8A	6334	broad.mit.edu	37	12	52056748	52056748	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:52056748G>A	ENST00000354534.5	+	2	325	c.147G>A	c.(145-147)gaG>gaA	p.E49E	SCN8A_ENST00000550891.1_Silent_p.E49E|SCN8A_ENST00000545061.1_Silent_p.E49E	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	49					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGGACGATGAGGACAGCAAGC	0.567000													15	38					0	0	0.003163	0	0
CNTN4	152330	broad.mit.edu	37	3	3072565	3072565	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:3072565C>T	ENST00000397461.1	+	15	2073	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	CNTN4_ENST00000427331.1_Silent_p.I563I|CNTN4_ENST00000358480.3_Silent_p.I344I|CNTN4_ENST00000397459.2_Silent_p.I235I|CNTN4_ENST00000448906.2_Silent_p.I235I|CNTN4_ENST00000418658.1_Silent_p.I563I	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	563	Ig-like C2-type 6.				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)		ATTTGATGATCCGAAACATCC	0.433000													7	20					0	0	0.004482	0	0
NT5M	56953	broad.mit.edu	37	17	17207002	17207002	+	Silent	SNP	G	G	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:17207002G>C	ENST00000389022.4	+	1	354	c.138G>C	c.(136-138)ctG>ctC	p.L46L		NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	46					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						ACGGCGTGCTGGCTGACTTCG	0.756000													8	18					0	0	0.008291	0	0
NR2C2	7182	broad.mit.edu	37	3	15057667	15057667	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:15057667G>A	ENST00000425241.1	+	4	644	c.282G>A	c.(280-282)acG>acA	p.T94T	NR2C2_ENST00000323373.6_Silent_p.T113T|NR2C2_ENST00000406272.2_Silent_p.T94T|NR2C2_ENST00000393102.3_Silent_p.T94T			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	94					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGATTGTCACGGATTCTGCCT	0.537000													18	48					0	0	0.008871	0	0
LNX1	84708	broad.mit.edu	37	4	54344801	54344801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:54344801C>T	ENST00000306888.2	-	7	1557	c.1306G>A	c.(1306-1308)Gat>Aat	p.D436N	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Missense_Mutation_p.D532N	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	532	PDZ 2.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATAGGCAAATCCCATTCTCTA	0.443000													26	59					0	0	0.006320	0	0
OR52E4	390081	broad.mit.edu	37	11	5906188	5906188	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:5906188C>T	ENST00000316987.2	+	1	688	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTGCTTATCCTTAGAGCTG	0.423000													23	56					0	0	0.001882	0	0
AADACL3	126767	broad.mit.edu	37	1	12785267	12785267	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:12785267C>T	ENST00000332530.3	+	3	373	c.147C>T	c.(145-147)tcC>tcT	p.S49S	AADACL3_ENST00000359318.5_Silent_p.S119S	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	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													26	69					0	0	0.006320	0	0
INPP5D	3635	broad.mit.edu	37	2	233944049	233944049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:233944049C>T	ENST00000359570.5	+	2	139	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	INPP5D_ENST00000538935.1_Missense_Mutation_p.R47W			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	47	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			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)		TTTCAGGTATCGGAATTGCGT	0.398000													7	14					0	0	0.003080	0	0
PKD1	5310	broad.mit.edu	37	16	2153848	2153848	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:2153848G>A	ENST00000262304.4	-	23	8418	c.8210C>T	c.(8209-8211)tCa>tTa	p.S2737L	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.S2737L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2737	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCCAGCTCTGAGGGCTGTGG	0.647000													7	16					0	0	0.001984	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947813	57947813	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:57947813C>T	ENST00000335397.3	+	3	1213	c.897C>T	c.(895-897)gcC>gcT	p.A299A		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TGAAGGAGGCCCTGAGAAAAA	0.478000													8	18					0	0	0.004482	0	0
JUP	3728	broad.mit.edu	37	17	39776926	39776926	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:39776926T>A	ENST00000540235.1	-	9	1642	c.1643A>T	c.(1642-1644)gAg>gTg	p.E548V	KRT17_ENST00000311208.8_Missense_Mutation_p.E389V			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		ATCCTCTCCCTCCAGCAGGCG	0.607000													10	39					0	0	0.000978	0	0
PCSK5	5125	broad.mit.edu	37	9	78796501	78796501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:78796501G>A	ENST00000545128.1	+	16	2729	c.2191G>A	c.(2191-2193)Gat>Aat	p.D731N	PCSK5_ENST00000376752.4_Missense_Mutation_p.D731N	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	731	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTCATATCAGGATACCAGTAA	0.433000													14	30					0	0	0.002450	0	0
PVRL2	5819	broad.mit.edu	37	19	45368885	45368885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:45368885C>T	ENST00000252483.5	+	2	446	c.446C>T	c.(445-447)tCc>tTc	p.S149F	PVRL2_ENST00000252485.4_Missense_Mutation_p.S149F	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	149	Ig-like V-type.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CCCAAGGGGTCCGTCCGAGGG	0.662000													29	38					0	0	0.009535	0	0
CACNA1C	775	broad.mit.edu	37	12	2676817	2676817	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:2676817C>T	ENST00000399655.1	+	13	2017	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	CACNA1C_ENST00000399606.1_Silent_p.F584F|CACNA1C_ENST00000399617.1_Silent_p.F584F|CACNA1C_ENST00000399637.1_Silent_p.F584F|CACNA1C_ENST00000399601.1_Silent_p.F584F|CACNA1C_ENST00000347598.4_Silent_p.F584F|CACNA1C_ENST00000399629.1_Silent_p.F584F|CACNA1C_ENST00000399634.1_Silent_p.F584F|CACNA1C_ENST00000399649.1_Silent_p.F584F|CACNA1C_ENST00000344100.3_Silent_p.F584F|CACNA1C_ENST00000399638.1_Silent_p.F584F|CACNA1C_ENST00000399644.1_Silent_p.F584F|CACNA1C_ENST00000406454.3_Silent_p.F584F|CACNA1C_ENST00000399597.1_Silent_p.F584F|CACNA1C_ENST00000399595.1_Silent_p.F584F|CACNA1C_ENST00000327702.7_Silent_p.F584F|CACNA1C_ENST00000399621.1_Silent_p.F584F|CACNA1C_ENST00000399641.1_Silent_p.F584F|CACNA1C_ENST00000402845.3_Silent_p.F584F|CACNA1C_ENST00000335762.5_Silent_p.F609F|CACNA1C_ENST00000399591.1_Silent_p.F584F|CACNA1C_ENST00000399603.1_Silent_p.F584F|CACNA1C_ENST00000480911.1_Silent_p.F584F	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	584					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGGCCTACTTCGTGTCCCTCT	0.607000													4	9					0	0	0.009096	0	0
MRPS18C	51023	broad.mit.edu	37	4	84377272	84377272	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:84377272G>A	ENST00000295491.4	+	1	155	c.42G>A	c.(40-42)aaG>aaA	p.K14K	MRPS18C_ENST00000507019.1_Silent_p.K14K|MRPS18C_ENST00000507349.1_Silent_p.K14K	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	14					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				TAGGGAGGAAGAAGTTGACAC	0.547000													38	114					0	0	0.004878	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143809	61143809	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:61143809C>T	ENST00000475015.1	-	0	529				C20orf166-AS1_ENST00000412495.1_RNA																							GTGGTGAACTCCCCTCGTGCG	0.667000													23	84					0	0	0.002299	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68812211	68812211	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:68812211C>T	ENST00000508048.1	-	2	122	c.87G>A	c.(85-87)gtG>gtA	p.V29V	TMPRSS11A_ENST00000334830.7_Silent_p.V30V|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Silent_p.V30V			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	30					cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCACTGCCACCACTGTCAGGG	0.438000													12	18					0	0	0.000978	0	0
TRPC7	57113	broad.mit.edu	37	5	135561043	135561043	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:135561043C>T	ENST00000513104.1	-	10	2545		c.e10-1		TRPC7_ENST00000426057.2_Splice_Site|TRPC7_ENST00000355180.3_Splice_Site	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7						axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCGAGTCTTCTGGATAAAAC	0.448000													6	9					0	0	0.003080	0	0
HELZ2	85441	broad.mit.edu	37	20	62192982	62192982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:62192982G>A	ENST00000467148.1	-	12	6877	c.6808C>T	c.(6808-6810)Cgg>Tgg	p.R2270W	HELZ2_ENST00000427522.2_Missense_Mutation_p.R1701W	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CTCCCCTCCCGGGGGCTCTTC	0.657000													31	60					0	0	0.002096	0	0
GLI2	2736	broad.mit.edu	37	2	121746665	121746665	+	Missense_Mutation	SNP	G	G	A	rs150597008		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:121746665G>A	ENST00000452319.1	+	14	3235	c.3175G>A	c.(3175-3177)Gac>Aac	p.D1059N	GLI2_ENST00000361492.4_Missense_Mutation_p.D1059N|GLI2_ENST00000314490.11_Missense_Mutation_p.D731N			P10070	GLI2_HUMAN	GLI family zinc finger 2	1059					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCCGGAGGACGACCTGGTGCT	0.706000													17	48					0	0	0.007413	0	0
EVPL	2125	broad.mit.edu	37	17	74005349	74005349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:74005349C>T	ENST00000301607.3	-	22	4190	c.3937G>A	c.(3937-3939)Gtg>Atg	p.V1313M	EVPL_ENST00000586740.1_Missense_Mutation_p.V1335M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1313	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCCTTGCTCACCGTCTTGGTC	0.697000													72	117					0	0	0.003610	0	0
GNA14	9630	broad.mit.edu	37	9	80046330	80046330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:80046330G>A	ENST00000341700.6	-	4	1013	c.500C>T	c.(499-501)tCa>tTa	p.S167L	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	167					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						AGGCACGAATGATGGTGTGGC	0.483000													15	22					0	0	0.004990	0	0
NUP155	9631	broad.mit.edu	37	5	37293076	37293076	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:37293076C>A	ENST00000231498.3	-	34	4145	c.3942G>T	c.(3940-3942)tgG>tgT	p.W1314C	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.W1255C|NUP155_ENST00000513532.1_Missense_Mutation_p.W1250C	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1314					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCATTCTGTTCCAGAATGGAT	0.318000													22	56					9.04412e-07	9.28291e-07	0.004656	1	0
KRT1	3848	broad.mit.edu	37	12	53070892	53070892	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:53070892T>A	ENST00000252244.3	-	6	1263	c.1205A>T	c.(1204-1206)aAt>aTt	p.N402I		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	402	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GATCACACGATTCAGCTCAGA	0.433000													11	28					0	0	0.008291	0	0
PROSER1	80209	broad.mit.edu	37	13	39587627	39587627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:39587627C>T	ENST00000352251.3	-	11	2595	c.1762G>A	c.(1762-1764)Ggt>Agt	p.G588S	PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.G566S	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	588	Ser-rich.																TCTGAGGTACCTGGGTGGGGG	0.532000													30	73					0	0	0.002836	0	0
POM121	9883	broad.mit.edu	37	7	72413768	72413768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:72413768C>T	ENST00000395270.1	+	14	3482	c.2441C>T	c.(2440-2442)aCc>aTc	p.T814I	POM121_ENST00000434423.2_Missense_Mutation_p.T1079I|POM121_ENST00000358357.3_Missense_Mutation_p.T814I|POM121_ENST00000446813.1_Missense_Mutation_p.T814I|POM121_ENST00000257622.4_Missense_Mutation_p.T814I	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1079	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACCACCCAGACCGCCAGCAGC	0.672000													10	22					0	0	0.008291	0	0
SLC1A6	6511	broad.mit.edu	37	19	15067400	15067400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:15067400G>A	ENST00000430939.2	-	6	994	c.865C>T	c.(865-867)Cat>Tat	p.H289Y	SLC1A6_ENST00000221742.3_Missense_Mutation_p.H353Y|SLC1A6_ENST00000600144.1_Intron			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	353					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	ATGCCGGCATGGAGGAACAGG	0.587000													19	23					0	0	0.007413	0	0
THRB	7068	broad.mit.edu	37	3	24164584	24164584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:24164584C>T	ENST00000396671.2	-	11	1525	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	THRB_ENST00000280696.5_Missense_Mutation_p.E408K|THRB_ENST00000416420.1_Missense_Mutation_p.E393K|THRB_ENST00000356447.4_Missense_Mutation_p.E393K	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	393	Interaction with NR2F6.|Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGTACTTTTCTATTCTCTCA	0.473000													20	50					0	0	0.010504	0	0
NPAS1	4861	broad.mit.edu	37	19	47548651	47548651	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:47548651G>A	ENST00000602212.1	+	12	1735	c.1515G>A	c.(1513-1515)caG>caA	p.Q505Q	NPAS1_ENST00000449844.2_Silent_p.Q505Q|NPAS1_ENST00000439365.2_3'UTR|NPAS1_ENST00000602189.1_Silent_p.Q330Q			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	505					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		TCCTGAAGCAGGATCCGGTGC	0.731000													7	21					0	0	0.003080	0	0
EMB	133418	broad.mit.edu	37	5	49706754	49706754	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:49706754G>A	ENST00000303221.5	-	4	644	c.429C>T	c.(427-429)ttC>ttT	p.F143F	EMB_ENST00000514111.1_Silent_p.F93F|EMB_ENST00000508934.1_Silent_p.F89F|EMB_ENST00000506190.1_5'UTR	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	143	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CCTCTCGAAAGAAACAAGAAT	0.289000													8	15					0	0	0.008291	0	0
HDAC9	9734	broad.mit.edu	37	7	18975558	18975558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:18975558G>A	ENST00000406451.3	+	23	3071	c.2921G>A	c.(2920-2922)gGa>gAa	p.G974E	HDAC9_ENST00000401921.1_Missense_Mutation_p.G933E|HDAC9_ENST00000432645.2_Missense_Mutation_p.G974E|HDAC9_ENST00000441542.2_Missense_Mutation_p.G977E	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	974	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCCCTTCTAGGAAATGAGGTA	0.408000													21	63					0	0	0.010504	0	0
SMAD1	4086	broad.mit.edu	37	4	146460988	146460988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:146460988G>A	ENST00000515385.1	+	3	975	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	SMAD1_ENST00000302085.4_Missense_Mutation_p.E145K|SMAD1_ENST00000394092.2_Missense_Mutation_p.E145K			Q15797	SMAD1_HUMAN	SMAD family member 1	145					BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					AAGACACAGCGAATATAATCC	0.413000													11	27					0	0	0.001368	0	0
OTX2	5015	broad.mit.edu	37	14	57268930	57268930	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:57268930G>A	ENST00000339475.5	-	5	693	c.417C>T	c.(415-417)ttC>ttT	p.F139F	OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000555006.1_Silent_p.F131F|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Silent_p.F131F	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	131					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					AGGGGGGAGTGAATTGGCCAC	0.527000													19	23					0	0	0.006122	0	0
PCLO	27445	broad.mit.edu	37	7	82785521	82785521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:82785521C>T	ENST00000423517.2	-	2	773	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	PCLO_ENST00000333891.8_Missense_Mutation_p.E146K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	146					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						TTGTGCTCTTCCTTTAAATCA	0.403000													11	33					0	0	0.008291	0	0
ATP9B	374868	broad.mit.edu	37	18	77108142	77108142	+	Missense_Mutation	SNP	C	C	T	rs141754612		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:77108142C>T	ENST00000426216.2	+	25	2866	c.2849C>T	c.(2848-2850)tCc>tTc	p.S950F	ATP9B_ENST00000543761.1_Missense_Mutation_p.S271F|ATP9B_ENST00000307671.7_Missense_Mutation_p.S950F	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	950					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GCTGTGTTTTCCTCAGTCTTC	0.557000													23	58					0	0	0.003954	0	0
IL31RA	133396	broad.mit.edu	37	5	55204257	55204257	+	Missense_Mutation	SNP	G	G	A	rs118134673	by1000genomes	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:55204257G>A	ENST00000396836.2	+	11	1711	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000490985.1_Intron|IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000297015.3_Missense_Mutation_p.E365K|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000447346.2_Intron			Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	475	Fibronectin type-III 5.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CGCCCATAGCGAAGTGGAAAA	0.468000													8	19					0	0	0.003080	0	0
DNAH5	1767	broad.mit.edu	37	5	13928256	13928256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:13928256C>T	ENST00000265104.4	-	3	328	c.224G>A	c.(223-225)gGa>gAa	p.G75E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	75	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGGAGACCTCCAACAGCAAA	0.338000									Kartagener syndrome				11	42					0	0	0.001855	0	0
SULF1	23213	broad.mit.edu	37	8	70515487	70515487	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:70515487C>T	ENST00000260128.4	+	11	1839	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	SULF1_ENST00000402687.4_Silent_p.L374L|SULF1_ENST00000458141.2_Silent_p.L374L|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Silent_p.L374L	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	374					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTGCTGGGCTCGACACACCTC	0.547000													19	57					0	0	0.007413	0	0
APCS	325	broad.mit.edu	37	1	159558454	159558454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:159558454G>A	ENST00000255040.2	+	2	725	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	210	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TCTGAACTATGAAATCAGAGG	0.488000													11	45					0	0	0.002450	0	0
SPAM1	6677	broad.mit.edu	37	7	123593715	123593715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:123593715C>T	ENST00000340011.5	+	3	448	c.91C>T	c.(91-93)Cca>Tca	p.P31S	SPAM1_ENST00000439500.1_Missense_Mutation_p.P31S|SPAM1_ENST00000402183.2_Missense_Mutation_p.P31S|SPAM1_ENST00000460182.1_Missense_Mutation_p.P31S|SPAM1_ENST00000223028.7_Missense_Mutation_p.P31S	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	31					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CCTTCTGATTCCATGTTGCTT	0.403000													9	18					0	0	0.006214	0	0
PAPPA	5069	broad.mit.edu	37	9	119115177	119115177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:119115177C>T	ENST00000328252.3	+	16	4526	c.4157C>T	c.(4156-4158)tCc>tTc	p.S1386F	PAPPA_ENST00000534838.1_Missense_Mutation_p.S424F	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1386	Sushi 3.				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						GTGCCTGGATCCTCTCGGAAG	0.517000													3	10					0	0	0.009096	0	0
GLMN	11146	broad.mit.edu	37	1	92713505	92713505	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:92713505G>A	ENST00000370360.3	-	17	1596	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	GLMN_ENST00000534881.1_Silent_p.F491F	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	505					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		GTGGCTTTAAGAAATTATTCT	0.289000									Multiple Glomus Tumors (of the Skin), Familial				7	37					0	0	0.008291	0	0
FGA	2243	broad.mit.edu	37	4	155508061	155508061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:155508061C>T	ENST00000302053.3	-	5	598	c.520G>A	c.(520-522)Gat>Aat	p.D174N	FGA_ENST00000403106.3_Missense_Mutation_p.D174N	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	174					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ATCTTAATATCAATGTCCACC	0.398000													11	33					0	0	0.001368	0	0
PCDH15	65217	broad.mit.edu	37	10	55582031	55582031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:55582031G>A	ENST00000361849.3	-	34	5855	c.5461C>T	c.(5461-5463)Cct>Tct	p.P1821S	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1779S|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1819S|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1750S|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1796S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1816S	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1819	Poly-Pro.				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)				ggtggtggaggaagaggagtt	0.483000										HNSCC(58;0.16)			6	19					0	0	0.001168	0	0
HOXD13	3239	broad.mit.edu	37	2	176959406	176959406	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:176959406G>A	ENST00000392539.3	+	2	980	c.980G>A	c.(979-981)cGa>cAa	p.R327Q		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	327					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		TTTCAGAACCGAAGAGTGAAG	0.468000			T	NUP98	AML*								9	26					0	0	0.006214	0	0
UCP3	7352	broad.mit.edu	37	11	73712518	73712518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:73712518G>A	ENST00000314032.4	-	7	1430	c.878C>T	c.(877-879)aCc>aTc	p.T293I	UCP3_ENST00000348534.4_Missense_Mutation_p.T191I	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	293	Purine nucleotide binding (By similarity).				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					CTGCTCATAGGTTACGAACAT	0.478000													7	24					0	0	0.003080	0	0
SPAG16	79582	broad.mit.edu	37	2	214727214	214727214	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:214727214C>G	ENST00000331683.5	+	11	1171	c.1076C>G	c.(1075-1077)tCc>tGc	p.S359C	SPAG16_ENST00000374309.3_Missense_Mutation_p.S265C	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	359					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CGCAGTGTCTCCATGCAACCC	0.448000													15	37					0	0	0.003163	0	0
SLC30A8	169026	broad.mit.edu	37	8	118174004	118174004	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:118174004C>T	ENST00000427715.2	+	8	887	c.453C>T	c.(451-453)tgC>tgT	p.C151C	SLC30A8_ENST00000456015.2_Silent_p.C200C|SLC30A8_ENST00000521243.1_Silent_p.C151C|SLC30A8_ENST00000519688.1_Silent_p.C151C	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	200					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ACCAGAGATGCCTTGGCCACA	0.443000													69	188					0	0	0.003610	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837676	12837676	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:12837676G>A	ENST00000357726.4	+	3	1413	c.1386G>A	c.(1384-1386)agG>agA	p.R462R		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	462										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGCATCAGGGCCTCCTATG	0.502000													21	64					0	0	0.002299	0	0
GABRA1	2554	broad.mit.edu	37	5	161277864	161277864	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:161277864C>T	ENST00000428797.2	+	3	403	c.48C>T	c.(46-48)ctC>ctT	p.L16L	GABRA1_ENST00000437025.2_Silent_p.L16L|GABRA1_ENST00000444819.1_Silent_p.L16L|GABRA1_ENST00000393943.4_Silent_p.L16L|GABRA1_ENST00000023897.6_Silent_p.L16L|GABRA1_ENST00000420560.1_Silent_p.L16L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	16					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCTGGATCCTCCTTCTGAGCA	0.423000													13	55					0	0	0.003163	0	0
PARD3	56288	broad.mit.edu	37	10	34759085	34759085	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:34759085G>A	ENST00000374789.3	-	4	835	c.510C>T	c.(508-510)ccC>ccT	p.P170P	PARD3_ENST00000545693.1_Silent_p.P170P|PARD3_ENST00000374794.3_Silent_p.P170P|PARD3_ENST00000374788.3_Silent_p.P170P|PARD3_ENST00000374790.3_Silent_p.P170P|PARD3_ENST00000350537.4_Silent_p.P170P|PARD3_ENST00000545260.1_Silent_p.P170P|PARD3_ENST00000346874.4_Silent_p.P170P|PARD3_ENST00000374776.1_Silent_p.P170P|PARD3_ENST00000340077.5_Silent_p.P170P|PARD3_ENST00000374773.1_Silent_p.P170P	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	170					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)				ACCAGCGTGTGGGATTTTTCC	0.493000													29	44					0	0	0.006320	0	0
CHST1	8534	broad.mit.edu	37	11	45671428	45671428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:45671428G>A	ENST00000308064.2	-	4	1716	c.1046C>T	c.(1045-1047)aCc>aTc	p.T349I		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	349					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GTTTCGCACGGTGCCGTATTT	0.667000													21	47					0	0	0.002780	0	0
SH3BP2	6452	broad.mit.edu	37	4	2831773	2831773	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:2831773C>T	ENST00000356331.5	+	8	1401	c.1140C>T	c.(1138-1140)ccC>ccT	p.P380P	SH3BP2_ENST00000511747.1_Silent_p.P380P|SH3BP2_ENST00000452765.2_Silent_p.P380P|SH3BP2_ENST00000435136.2_Silent_p.P380P|SH3BP2_ENST00000503393.2_Silent_p.P437P|SH3BP2_ENST00000442312.2_Silent_p.P408P	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	380					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TTGTGCCCCCCGTGGCTCCCC	0.687000									Cherubism				11	33					0	0	0.000978	0	0
MYH2	4620	broad.mit.edu	37	17	10429959	10429959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:10429959C>T	ENST00000245503.5	-	30	4528	c.4144G>A	c.(4144-4146)Gag>Aag	p.E1382K	MYH2_ENST00000397183.2_Missense_Mutation_p.E1382K|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1382					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCGTCCGTCTCGTATTTGGTC	0.532000													43	87					0	0	0.003610	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340052	29340052	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:29340052G>A	ENST00000269205.5	-	1	791	c.603C>T	c.(601-603)ttC>ttT	p.F201F	SLC25A52_ENST00000579441.2_Silent_p.F191F	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	191					transport	integral to membrane|mitochondrial inner membrane		p.F191F(1)|p.F201F(1)									CTCGAAGGCCGAAAAACAAGA	0.473000													15	40					0	0	0.008871	0	0
DGKG	1608	broad.mit.edu	37	3	185983042	185983042	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:185983042G>A	ENST00000265022.3	-	14	1802	c.1263C>T	c.(1261-1263)gtC>gtT	p.V421V	DGKG_ENST00000344484.4_Silent_p.V421V|DGKG_ENST00000382164.4_Silent_p.V382V|DGKG_ENST00000544847.1_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	421					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GTACCTGCATGACAAGTTCGC	0.507000													7	18					0	0	0.003080	0	0
CKAP4	10970	broad.mit.edu	37	12	106633345	106633345	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:106633345G>A	ENST00000378026.4	-	2	1402	c.1266C>T	c.(1264-1266)tcC>tcT	p.S422S		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	422						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CCACCTGCATGGAGAGCACCC	0.657000													11	60					0	0	0.000978	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5242178	5242178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:5242178G>A	ENST00000274181.7	+	17	2674	c.2536G>A	c.(2536-2538)Gga>Aga	p.G846R		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	846	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCTGTTTCAGGGAAGGAACCC	0.488000													9	40					0	0	0.008291	0	0
PLCD3	113026	broad.mit.edu	37	17	43196366	43196366	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:43196366G>A	ENST00000322765.5	-	5	842	c.729C>T	c.(727-729)atC>atT	p.I243I	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	243	EF-hand 2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	GGAACTCCTCGATCTCAGCCC	0.642000													5	7					0	0	0.001168	0	0
OR2L2	26246	broad.mit.edu	37	1	248201644	248201644	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:248201644C>T	ENST00000366479.2	+	1	171	c.75C>T	c.(73-75)ttC>ttT	p.F25F	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTGGCCTTTTCGTATTCACCC	0.378000													29	80					0	0	0.008361	0	0
NLRP4	147945	broad.mit.edu	37	19	56369516	56369516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:56369516G>A	ENST00000301295.6	+	3	1179	c.757G>A	c.(757-759)Gag>Aag	p.E253K	NLRP4_ENST00000346986.5_Missense_Mutation_p.E253K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E178K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	253	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGACTTGATGGAGAAACGGCC	0.572000													31	62					0	0	0.004289	0	0
ELK4	2005	broad.mit.edu	37	1	205589662	205589662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:205589662G>A	ENST00000357992.4	-	3	851	c.512C>T	c.(511-513)cCa>cTa	p.P171L	ELK4_ENST00000289703.4_Missense_Mutation_p.P171L	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TTTCTCGGCTGGATTCTCAGT	0.418000			T	SLC45A3	prostate								13	26					0	0	0.002450	0	0
LRBA	987	broad.mit.edu	37	4	151773485	151773485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:151773485G>A	ENST00000535741.1	-	23	3850	c.3377C>T	c.(3376-3378)cCc>cTc	p.P1126L	LRBA_ENST00000507224.1_Missense_Mutation_p.P1126L|LRBA_ENST00000510413.1_Missense_Mutation_p.P1126L|LRBA_ENST00000357115.3_Missense_Mutation_p.P1126L			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1126						endoplasmic reticulum|Golgi apparatus|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)					GAGCTCTGTGGGTAGATTAGC	0.398000													12	28					0	0	0.002450	0	0
METTL22	79091	broad.mit.edu	37	16	8732970	8732970	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:8732970C>T	ENST00000381920.3	+	6	981	c.723C>T	c.(721-723)tcC>tcT	p.S241S	METTL22_ENST00000561758.1_Silent_p.S185S|METTL22_ENST00000568967.1_3'UTR	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	241							methyltransferase activity			large_intestine(5)|lung(4)	9						ATCTCTTGTCCATGTGCCAGC	0.542000													16	32					0	0	0.006122	0	0
DNAH5	1767	broad.mit.edu	37	5	13839615	13839615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:13839615G>A	ENST00000265104.4	-	35	5836	c.5732C>T	c.(5731-5733)cCc>cTc	p.P1911L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1911	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGTCCATGGGACTCTTGAT	0.358000									Kartagener syndrome				17	28					0	0	0.006122	0	0
LEMD2	221496	broad.mit.edu	37	6	33752165	33752165	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:33752165G>A	ENST00000293760.5	-	3	836	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	LEMD2_ENST00000508327.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	273						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						AGTTCATGCAGCAGCTCCAGC	0.572000													17	45					0	0	0.004990	0	0
EFCAB6	64800	broad.mit.edu	37	22	43933284	43933284	+	Missense_Mutation	SNP	C	C	T	rs149931639	by1000genomes	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:43933284C>T	ENST00000262726.7	-	29	4274	c.4021G>A	c.(4021-4023)Ggg>Agg	p.G1341R	EFCAB6_ENST00000396231.2_Missense_Mutation_p.G1189R|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1341	Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTGATGTCCCCCTGTCTGGCC	0.557000													24	77					0	0	0.006320	0	0
CSMD2	114784	broad.mit.edu	37	1	34015943	34015943	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:34015943G>A	ENST00000373381.4	-	56	8927	c.8751C>T	c.(8749-8751)tcC>tcT	p.S2917S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2892	Sushi 21.					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)				GATGGCCACAGGACACCACTG	0.562000													10	33					0	0	0.006214	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454988	84454988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:84454988C>T	ENST00000377084.2	-	1	1540	c.655G>A	c.(655-657)Gat>Aat	p.D219N		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	219	LRRCT 1.					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)		GAGAGCAGATCACAGGTGCAG	0.547000													9	27					0	0	0.004482	0	0
UCHL1	7345	broad.mit.edu	37	4	41265263	41265263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:41265263C>T	ENST00000284440.4	+	7	625	c.481C>T	c.(481-483)Cat>Tat	p.H161Y	UCHL1_ENST00000508768.1_Missense_Mutation_p.H145Y|UCHL1_ENST00000512788.1_Missense_Mutation_p.H161Y|UCHL1_ENST00000503431.1_Missense_Mutation_p.H161Y	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	161					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	p.H161Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GGTGAATTTCCATTTTATTCT	0.333000													14	39					0	0	0.004007	0	0
NLRP11	204801	broad.mit.edu	37	19	56319282	56319282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:56319282C>T	ENST00000443188.1	-	6	2650	c.1940G>A	c.(1939-1941)gGt>gAt	p.G647D	NLRP11_ENST00000589093.1_Missense_Mutation_p.G647D|NLRP11_ENST00000589824.2_Intron|NLRP11_ENST00000360133.3_Intron|NLRP11_ENST00000592953.1_Missense_Mutation_p.G548D	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	647							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)		TTCTGAAATACCATTAAGGTC	0.433000													21	48					0	0	0.002299	0	0
CENPE	1062	broad.mit.edu	37	4	104079922	104079922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:104079922C>T	ENST00000265148.3	-	23	2812	c.2723G>A	c.(2722-2724)aGg>aAg	p.R908K	CENPE_ENST00000380026.3_Missense_Mutation_p.R883K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	908					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTTTTCTCCCTTTCTACAGT	0.358000													9	18					0	0	0.006214	0	0
SVOPL	136306	broad.mit.edu	37	7	138312112	138312112	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:138312112G>A	ENST00000421622.1	-	8	1012	c.804C>T	c.(802-804)ctC>ctT	p.L268L	SVOPL_ENST00000436657.1_Silent_p.L236L|SVOPL_ENST00000419765.3_Silent_p.L388L|SVOPL_ENST00000463557.1_5'UTR|SVOPL_ENST00000288513.5_Silent_p.L236L			Q8N434	SVOPL_HUMAN	SVOP-like	388						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						TGCAAATGTTGAGGAGAAGGA	0.413000													3	11					0	0	0.009096	0	0
PRIMA1	145270	broad.mit.edu	37	14	94203587	94203587	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:94203587C>T	ENST00000393140.1	-	4	461	c.359_splice	c.e4+1	p.R120_splice	PRIMA1_ENST00000316227.3_Splice_Site_p.R120_splice|PRIMA1_ENST00000393143.1_Splice_Site_p.R120_splice	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	120					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GAGCACTCACCTTTTTATGGC	0.493000													4	19					0	0	0.009096	0	0
COL6A3	1293	broad.mit.edu	37	2	238275439	238275439	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:238275439G>A	ENST00000295550.4	-	11	5843	c.5391C>T	c.(5389-5391)ttC>ttT	p.F1797F	COL6A3_ENST00000347401.3_Silent_p.F1596F|COL6A3_ENST00000472056.1_Silent_p.F1190F|COL6A3_ENST00000409809.1_Silent_p.F1591F|COL6A3_ENST00000353578.4_Silent_p.F1591F|COL6A3_ENST00000346358.4_Silent_p.F1597F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1797	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGCCCACGCGGAACGCTGTGG	0.547000													10	31					0	0	0.006214	0	0
PRB1	5542	broad.mit.edu	37	12	11506747	11506747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:11506747G>A	ENST00000500254.2	-	3	327	c.290C>T	c.(289-291)cCa>cTa	p.P97L	PRB1_ENST00000545626.1_Missense_Mutation_p.P97L|PRB1_ENST00000546254.1_Missense_Mutation_p.P97L	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	280	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGTCCTTGTGGTTTTCCTGG	0.607000													83	359					0	0	0.003610	0	0
MAP3K4	4216	broad.mit.edu	37	6	161510469	161510469	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:161510469A>G	ENST00000392142.4	+	11	3087	c.2939A>G	c.(2938-2940)cAg>cGg	p.Q980R	MAP3K4_ENST00000366920.2_Missense_Mutation_p.Q980R|MAP3K4_ENST00000366919.2_Missense_Mutation_p.Q980R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.Q980R	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	980					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ACATCCAGTCAGCCGGTCATC	0.463000													25	106					0	0	0.008361	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102312120	102312120	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:102312120C>T	ENST00000561463.1	+	0	13488																											CTCCCCTGCCCCTGCCTGCCC	0.622000													18	80					0	0	0.008871	0	0
ASTN2	23245	broad.mit.edu	37	9	119976662	119976662	+	Silent	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:119976662T>C	ENST00000313400.4	-	3	1090	c.990A>G	c.(988-990)gaA>gaG	p.E330E	ASTN2_ENST00000373996.3_Silent_p.E330E|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.E330E			O75129	ASTN2_HUMAN	astrotactin 2	330						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						CCACCTTCTCTTCCCCTGGAT	0.567000													25	57					0	0	0.003954	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6311588	6311588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:6311588C>T	ENST00000400104.3	-	3	237	c.37G>A	c.(37-39)Gat>Aat	p.D13N	L3MBTL4_ENST00000284898.6_Missense_Mutation_p.D13N|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.D13N|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.D13N			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	13					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TCTTTGGAATCCATATTAAGC	0.483000													40	138					0	0	0.007835	0	0
KCNT2	343450	broad.mit.edu	37	1	196438156	196438156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:196438156C>T	ENST00000367433.5	-	6	528	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.E143K|KCNT2_ENST00000367431.4_Missense_Mutation_p.E143K			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	143						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTAATTATTTCCAAGATGAAG	0.313000													5	8					0	0	0.001984	0	0
TLR10	81793	broad.mit.edu	37	4	38775011	38775011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:38775011G>A	ENST00000308973.4	-	4	2806	c.2201C>T	c.(2200-2202)cCa>cTa	p.P734L	TLR10_ENST00000508334.1_Missense_Mutation_p.P734L|TLR10_ENST00000506111.1_Missense_Mutation_p.P734L|TLR10_ENST00000361424.2_Missense_Mutation_p.P734L	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	734	TIR.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GCAATAGAATGGAATGGGTTC	0.403000													19	30					0	0	0.002780	0	0
LCE1A	353131	broad.mit.edu	37	1	152800038	152800038	+	Silent	SNP	C	C	T	rs4990420		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:152800038C>T	ENST00000335123.2	+	1	90	c.90C>T	c.(88-90)ccC>ccT	p.P30P		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	30	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctaagtgccccccaaagtgtc	0.672000													13	34					0	0	0.001855	0	0
DNAH7	56171	broad.mit.edu	37	2	196891521	196891521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:196891521C>T	ENST00000312428.6	-	7	730	c.630G>A	c.(628-630)atG>atA	p.M210I	DNAH7_ENST00000410072.1_Missense_Mutation_p.M210I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	210	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATCCTCTCTCATTTCATCAG	0.328000													3	15					0	0	0.009096	0	0
AVPR1B	553	broad.mit.edu	37	1	206224958	206224958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:206224958C>T	ENST00000367126.4	+	1	983	c.518C>T	c.(517-519)tCc>tTc	p.S173F		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	173					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTCATTTTTTCCCTGCGGGAG	0.652000													24	32					0	0	0.003954	0	0
ESPNP	284729	broad.mit.edu	37	1	17046556	17046556	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:17046556G>A	ENST00000492551.1	-	0	96					NR_026567.1																						GCCGCGGTGGGATCCCCACCG	0.597000													12	90					0	0	0.001855	0	0
OR4X2	119764	broad.mit.edu	37	11	48267238	48267238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:48267238G>A	ENST00000302329.3	+	1	631	c.583G>A	c.(583-585)Gga>Aga	p.G195R		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTTGCCAATGGAGGCACCCT	0.498000													43	94					0	0	0.002522	0	0
NOD1	10392	broad.mit.edu	37	7	30494798	30494798	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:30494798G>A	ENST00000222823.4	-	5	856	c.331C>T	c.(331-333)Cct>Tct	p.P111S	NOD1_ENST00000423334.2_Missense_Mutation_p.P111S	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	111					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						AGCAGGGAAGGGGAGAAGCCG	0.617000													13	39					0	0	0.002450	0	0
ABCA4	24	broad.mit.edu	37	1	94473808	94473808	+	Missense_Mutation	SNP	C	C	T	rs142253670		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:94473808C>T	ENST00000370225.3	-	42	5967	c.5881G>A	c.(5881-5883)Gga>Aga	p.G1961R	ABCA4_ENST00000535881.1_Missense_Mutation_p.G80R|ABCA4_ENST00000536513.1_Missense_Mutation_p.G231R|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1961	ABC transporter 2.		G -> E (in STGD1 and FFM; frequent mutation; may be associated with ARMD2; inhibition of ATP hydrolysis by retinal; dbSNP:rs1800553).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGCGAACTCCGACACACAGC	0.562000													13	41					0	0	0.002450	0	0
ASCC3	10973	broad.mit.edu	37	6	101173462	101173462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:101173462C>T	ENST00000369162.2	-	11	2199	c.1855G>A	c.(1855-1857)Gat>Aat	p.D619N	ASCC3_ENST00000522650.1_Missense_Mutation_p.D619N	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	619	Helicase ATP-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGTCCTCTATCTTCATGCAGC	0.378000													8	46					0	0	0.004482	0	0
ZNF222	7673	broad.mit.edu	37	19	44536578	44536578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:44536578C>T	ENST00000187879.8	+	4	913	c.751C>T	c.(751-753)Cat>Tat	p.H251Y	ZNF222_ENST00000391960.3_Missense_Mutation_p.H291Y|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TCACAGAATTCATACTGGGGA	0.393000													24	44					0	0	0.003954	0	0
INTU	27152	broad.mit.edu	37	4	128627808	128627808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:128627808C>T	ENST00000335251.5	+	12	2058	c.1955C>T	c.(1954-1956)cCc>cTc	p.P652L		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	652										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TCTCCAGTCCCCTGTTTGTCT	0.458000													29	55					0	0	0.006320	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47115627	47115627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:47115627C>T	ENST00000290341.3	+	6	833	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	167					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGAGAATGGGCGCCGAGGGGG	0.637000													13	53					0	0	0.004007	0	0
XKR4	114786	broad.mit.edu	37	8	56436558	56436558	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:56436558G>A	ENST00000327381.5	+	3	1825	c.1725G>A	c.(1723-1725)gtG>gtA	p.V575V		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	575						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCTTTCAAGTGAGGCCCACTG	0.532000													17	48					0	0	0.008871	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136196	92136196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:92136196G>A	ENST00000256343.3	-	14	1405	c.1249C>T	c.(1249-1251)Cat>Tat	p.H417Y		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	417					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.H417Y(1)		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)				CTTCGGGGATGAAATACCATT	0.408000													7	25					0	0	0.001984	0	0
SPTA1	6708	broad.mit.edu	37	1	158609395	158609395	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:158609395C>T	ENST00000368148.3	-	35	5137	c.4957G>A	c.(4957-4959)Gag>Aag	p.E1653K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E1653K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1653					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCTCTCTCTCCAATAGCTGA	0.483000													21	71					0	0	0.006320	0	0
ANXA9	8416	broad.mit.edu	37	1	150960762	150960762	+	Missense_Mutation	SNP	C	C	T	rs150067239	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:150960762C>T	ENST00000368947.4	+	12	1273	c.797C>T	c.(796-798)tCg>tTg	p.S266L		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	266					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTTCCAGCTTCGGTGATCAAG	0.517000													16	53					0	0	0.010504	0	0
FRK	2444	broad.mit.edu	37	6	116263665	116263665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:116263665C>T	ENST00000606080.1	-	8	1876	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q	FRK_ENST00000538210.1_Missense_Mutation_p.R335Q	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	477	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		AAATGTAGGTCGTTCCTTAGG	0.408000													14	60					0	0	0.003163	0	0
MYH6	4624	broad.mit.edu	37	14	23869930	23869930	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:23869930G>A	ENST00000405093.3	-	13	1468	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	MYH6_ENST00000356287.3_Silent_p.F466F	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	466	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGAAGATCTCGAAGCCAGCGA	0.552000													12	32					0	0	0.001855	0	0
PRRX1	5396	broad.mit.edu	37	1	170699432	170699432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:170699432C>T	ENST00000367760.3	+	4	1699	c.614C>T	c.(613-615)cCa>cTa	p.P205L	PRRX1_ENST00000476867.2_Intron|PRRX1_ENST00000239461.6_Intron	NM_006902.3	NP_008833.1	P54821	PRRX1_HUMAN	paired related homeobox 1	0						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)					TCGTCCCTCCCAAGATGTTGT	0.493000													33	105					0	0	0.003271	0	0
MUC16	94025	broad.mit.edu	37	19	9074844	9074844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9074844C>T	ENST00000397910.4	-	3	12805	c.12602G>A	c.(12601-12603)gGg>gAg	p.G4201E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4203	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						TGTGGTCTTCCCCAGGCCAGA	0.502000													4	25					0	0	0.001168	0	0
FRMPD2	143162	broad.mit.edu	37	10	49400783	49400783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:49400783C>T	ENST00000374201.3	-	16	2411	c.2109G>A	c.(2107-2109)atG>atA	p.M703I	FRMPD2_ENST00000305531.3_Missense_Mutation_p.M678I|FRMPD2_ENST00000407470.4_Missense_Mutation_p.M671I	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	703					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGAAGTTATCCATTGATGTAC	0.527000													13	40					0	0	0.002450	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558451	140558451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140558451C>T	ENST00000239444.2	+	1	1081	c.836C>T	c.(835-837)tCc>tTc	p.S279F		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		279	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S279F(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGAGATTTCCTATTCACTT	0.413000													21	129					0	0	0.010504	0	0
MEP1A	4224	broad.mit.edu	37	6	46787402	46787402	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:46787402G>A	ENST00000230588.4	+	7	526	c.517G>A	c.(517-519)Gat>Aat	p.D173N		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	173	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)			GACGGACCGGGATGATTATGT	0.473000													43	154					0	0	0.003610	0	0
DGKG	1608	broad.mit.edu	37	3	186038225	186038225	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:186038225G>A	ENST00000265022.3	-	2	563	c.24C>T	c.(22-24)tcC>tcT	p.S8S	DGKG_ENST00000344484.4_Silent_p.S8S|DGKG_ENST00000382164.4_Silent_p.S8S|DGKG_ENST00000544847.1_Silent_p.S8S	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	8					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CTGGAGTGAGGGAGACCCACC	0.468000													14	35					0	0	0.003163	0	0
GALNT14	79623	broad.mit.edu	37	2	31133921	31133921	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:31133921C>T	ENST00000349752.5	-	15	2144	c.1505G>A	c.(1504-1506)tGg>tAg	p.W502*	GALNT14_ENST00000420311.2_Nonsense_Mutation_p.W467*|GALNT14_ENST00000406653.1_Nonsense_Mutation_p.W482*|GALNT14_ENST00000324589.5_Nonsense_Mutation_p.W507*|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Nonsense_Mutation_p.W469*	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	502	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AGTTTTGGTCCATTGCTGGTA	0.493000													22	44					0	0	0.003330	0	0
PLG	5340	broad.mit.edu	37	6	161123340	161123340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:161123340G>A	ENST00000308192.9	+	1	67	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	PLG_ENST00000366924.2_Missense_Mutation_p.E2K|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	2					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCCAAAATGGAACATAAGGA	0.373000													14	64					0	0	0.007413	0	0
PAK3	5063	broad.mit.edu	37	X	110391071	110391071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:110391071C>T	ENST00000519681.1	+	8	888	c.446C>T	c.(445-447)tCc>tTc	p.S149F	PAK3_ENST00000372007.4_Missense_Mutation_p.S128F|PAK3_ENST00000425146.1_Missense_Mutation_p.S128F|PAK3_ENST00000417227.1_Missense_Mutation_p.S149F|PAK3_ENST00000518291.1_Missense_Mutation_p.S164F|PAK3_ENST00000262836.4_Missense_Mutation_p.S143F|PAK3_ENST00000360648.4_Missense_Mutation_p.S164F|PAK3_ENST00000446737.1_Missense_Mutation_p.S128F|PAK3_ENST00000372010.1_Missense_Mutation_p.S143F			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	143	Autoregulatory region (By similarity).|Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TTCTATGATTCCAAAGAAACA	0.378000										TSP Lung(19;0.15)			13	6					0	0	0.001368	0	0
LAMB1	3912	broad.mit.edu	37	7	107564460	107564460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:107564460C>T	ENST00000393561.1	-	32	5553	c.5369G>A	c.(5368-5370)gGa>gAa	p.G1790E	LAMB1_ENST00000222399.6_Missense_Mutation_p.G1766E			P07942	LAMB1_HUMAN	laminin, beta 1	1766					axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACGGACTTCTCCTTCCAGTCT	0.358000													6	30					0	0	0.001168	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407503	1407503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:1407503G>A	ENST00000381524.3	+	5	497	c.311G>A	c.(310-312)gGa>gAa	p.G104E	CSF2RA_ENST00000355805.2_Missense_Mutation_p.G104E|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000432318.2_Missense_Mutation_p.G104E|CSF2RA_ENST00000381509.3_Missense_Mutation_p.G104E|CSF2RA_ENST00000381529.3_Missense_Mutation_p.G104E|CSF2RA_ENST00000361536.3_Missense_Mutation_p.G104E|CSF2RA_ENST00000381500.1_Missense_Mutation_p.G104E|CSF2RA_ENST00000417535.2_Missense_Mutation_p.G104E|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G104E			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	104						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGTCAAAGAGGATTTCAACAG	0.443000													64	153					0	0	0.003610	0	0
SEMG2	6407	broad.mit.edu	37	20	43850392	43850392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:43850392C>T	ENST00000372769.3	+	2	209	c.119C>T	c.(118-120)cCa>cTa	p.P40L		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	40					sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TCCCAATTTCCACATGGACAA	0.388000													11	45					0	0	0.001368	0	0
PHOX2B	8929	broad.mit.edu	37	4	41748110	41748110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:41748110G>A	ENST00000226382.2	-	3	1018	c.659C>T	c.(658-660)cCg>cTg	p.P220L		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	220					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.G216fs*88(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						agctccagccgggctgggccc	0.816000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				10	24					0	0	0.006214	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895592	24895592	+	Missense_Mutation	SNP	G	G	A	rs146807462		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:24895592G>A	ENST00000382071.2	+	4	773	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.E230K|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	230	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CCTGTATAACGAATTCAACCA	0.428000													13	98					0	0	0.002450	0	0
NWD1	284434	broad.mit.edu	37	19	16860478	16860478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:16860478C>T	ENST00000524140.2	+	6	1443	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	NWD1_ENST00000552788.1_Missense_Mutation_p.P342L|NWD1_ENST00000523826.1_Missense_Mutation_p.P136L|NWD1_ENST00000549814.1_Missense_Mutation_p.P342L|NWD1_ENST00000379808.3_Missense_Mutation_p.P342L|NWD1_ENST00000339803.6_Missense_Mutation_p.P207L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	342	NACHT.						ATP binding			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						CTCTTTGGGCCCCCAGGCATT	0.632000													9	25					0	0	0.004482	0	0
CXorf22	170063	broad.mit.edu	37	X	35988949	35988949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:35988949G>A	ENST00000297866.5	+	11	1945	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	627										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TACTACATTTGAAAAACAGCA	0.289000													4	2					0	0	0.009096	0	0
HELZ2	85441	broad.mit.edu	37	20	62192983	62192983	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:62192983G>A	ENST00000467148.1	-	12	6876	c.6807C>T	c.(6805-6807)ccC>ccT	p.P2269P	HELZ2_ENST00000427522.2_Silent_p.P1700P	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		TCCCCTCCCGGGGGCTCTTCC	0.662000													31	56					0	0	0.002096	0	0
PRSS3	5646	broad.mit.edu	37	9	33798597	33798597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:33798597G>A	ENST00000361005.5	+	4	739	c.739G>A	c.(739-741)Gag>Aag	p.E247K	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Missense_Mutation_p.E190K|PRSS3_ENST00000429677.3_Missense_Mutation_p.E183K|PRSS3_ENST00000495682.1_3'UTR|PRSS3_ENST00000342836.4_Missense_Mutation_p.E204K	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	protease, serine, 3	247	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GGGCTTCCTTGAGGGAGGCAA	0.562000													8	171					0	0	0.002450	0	0
PRB4	5545	broad.mit.edu	37	12	11462321	11462321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:11462321G>A	ENST00000279575.1	-	2	116	c.83C>T	c.(82-84)tCt>tTt	p.S28F	PRB4_ENST00000445719.2_Missense_Mutation_p.S28F|PRB4_ENST00000535904.1_Missense_Mutation_p.S28F	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	28				S -> P (in Ref. 5; AA sequence).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TAGGAAGAGAGATTCTTCCTG	0.378000										HNSCC(22;0.051)			14	38					0	0	0.002450	0	0
HS1BP3	64342	broad.mit.edu	37	2	20838367	20838367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:20838367G>A	ENST00000402541.1	-	4	466	c.452C>T	c.(451-453)tCt>tTt	p.S151F	HS1BP3_ENST00000304031.3_Missense_Mutation_p.S151F			Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	151					cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCAGGACAGAGGAATCTCT	0.562000													12	22					0	0	0.001855	0	0
LILRP2	79166	broad.mit.edu	37	19	55222099	55222099	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:55222099C>T	ENST00000413439.1	+	0	1626																											GTGACCTCAGCCCACGCGGGG	0.622000													15	28					0	0	0.002450	0	0
MMRN1	22915	broad.mit.edu	37	4	90856447	90856447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:90856447G>A	ENST00000394980.1	+	7	1935	c.1616G>A	c.(1615-1617)aGc>aAc	p.S539N	MMRN1_ENST00000264790.2_Missense_Mutation_p.S539N|MMRN1_ENST00000508372.1_Missense_Mutation_p.S281N|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	539					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.S539T(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GAGTCAGTTAGCAATAATGTC	0.363000													9	26					0	0	0.006214	0	0
TRAM2	9697	broad.mit.edu	37	6	52372354	52372354	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:52372354A>G	ENST00000182527.3	-	7	622	c.623T>C	c.(622-624)tTa>tCa	p.L208S	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	208	TLC.				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding			endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					CACTCACTTTAAGAGGTATGC	0.453000													25	29					0	0	0.004656	0	0
BRD2	6046	broad.mit.edu	37	6	32944031	32944031	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:32944031C>T	ENST00000395289.2	+	6	2216	c.615C>T	c.(613-615)ctC>ctT	p.L205L	BRD2_ENST00000374831.4_Silent_p.L205L|BRD2_ENST00000374825.4_Silent_p.L205L|BRD2_ENST00000443797.2_Silent_p.L85L|BRD2_ENST00000395287.1_Silent_p.L205L|BRD2_ENST00000449085.2_Silent_p.L158L			P25440	BRD2_HUMAN	bromodomain containing 2	205					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TTCTAGCGCTCCAGGGCAGTG	0.502000													12	35					0	0	0.000978	0	0
STPG2	285555	broad.mit.edu	37	4	98480264	98480264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:98480264G>A	ENST00000295268.3	-	11	1414	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F	STPG2_ENST00000506482.1_Intron|RP11-681L8.1_ENST00000518105.1_RNA	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		TTTCTCCTGGGATATCTGTTT	0.279000													22	61					0	0	0.003954	0	0
EXOSC5	56915	broad.mit.edu	37	19	41903149	41903149	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:41903149G>A	ENST00000221233.4	-	1	235	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.R29W	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	29					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						GCAAAGTGCCGGAGGCTGCAG	0.592000													33	64					0	0	0.002445	0	0
TMEM40	55287	broad.mit.edu	37	3	12790243	12790243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:12790243G>A	ENST00000314124.7	-	3	478	c.122C>T	c.(121-123)tCc>tTc	p.S41F	TMEM40_ENST00000264728.8_Missense_Mutation_p.S41F|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_Missense_Mutation_p.S41F|TMEM40_ENST00000431022.2_Missense_Mutation_p.S57F	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	41						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TTGTTCTTGGGAAAAGAGTCC	0.517000													46	102					0	0	0.003610	0	0
SMARCA4	6597	broad.mit.edu	37	19	11152215	11152215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:11152215C>T	ENST00000358026.2	+	31	4783	c.4499C>T	c.(4498-4500)gCc>gTc	p.A1500V	SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1435V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1438V|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1438V|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1468V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1438V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1438V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1435V|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A1468V	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1468	Bromo.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATTGTGGATGCCGTGATCAAG	0.612000			"""F, N, Mis"""		NSCLC								11	22					0	0	0.001855	0	0
C1QTNF8	390664	broad.mit.edu	37	16	1144728	1144728	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:1144728G>A	ENST00000328449.5	-	3	468	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	65						collagen				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				TGAGGATTTCGATGTCTATAG	0.672000													13	32					0	0	0.001368	0	0
CD244	51744	broad.mit.edu	37	1	160832449	160832449	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:160832449T>A	ENST00000368034.4	-	1	196	c.19A>T	c.(19-21)Acc>Tcc	p.T7S	CD244_ENST00000368033.3_Missense_Mutation_p.T7S|CD244_ENST00000322302.7_Missense_Mutation_p.T7S|CD244_ENST00000368032.2_Missense_Mutation_p.T7S	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	7					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGTATGAGGGTGACCACTTGC	0.642000													12	27					0	0	0.003163	0	0
APOB	338	broad.mit.edu	37	2	21231675	21231675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:21231675G>A	ENST00000233242.1	-	26	8192	c.8065C>T	c.(8065-8067)Cca>Tca	p.P2689S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2689					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TATATATCTGGAACGGGCCAC	0.438000													147	312					0	0	0.003610	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51252788	51252788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:51252788G>A	ENST00000551456.1	+	3	649	c.604G>A	c.(604-606)Gga>Aga	p.G202R	TMPRSS12_ENST00000398458.3_Missense_Mutation_p.G202R			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	202	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						AATCCTGGACGGAAACACAAA	0.348000													4	14					0	0	0.000602	0	0
JUP	3728	broad.mit.edu	37	17	39776928	39776928	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:39776928C>T	ENST00000540235.1	-	9	1640	c.1641G>A	c.(1639-1641)ctG>ctA	p.L547L	KRT17_ENST00000311208.8_Silent_p.L388L			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CCTCTCCCTCCAGCAGGCGGC	0.612000													11	39					0	0	0.001368	0	0
MMP27	64066	broad.mit.edu	37	11	102565806	102565806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:102565806C>T	ENST00000260229.4	-	7	1016	c.925G>A	c.(925-927)Gat>Aat	p.D309N		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	309	Hemopexin-like 1.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TCCGTGATATCATAATAGATC	0.403000													11	34					0	0	0.000978	0	0
RALBP1	10928	broad.mit.edu	37	18	9533365	9533365	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:9533365C>T	ENST00000019317.4	+	8	1711	c.1488C>T	c.(1486-1488)ctC>ctT	p.L496L	RALBP1_ENST00000383432.3_Silent_p.L496L			Q15311	RBP1_HUMAN	ralA binding protein 1	496	Interacts with RalA.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						AGGAGGAGCTCCTGGCCATGG	0.468000													19	28					0	0	0.008871	0	0
DSC2	1824	broad.mit.edu	37	18	28671022	28671022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:28671022G>A	ENST00000280904.6	-	4	886	c.443C>T	c.(442-444)tCc>tTc	p.S148F	DSC2_ENST00000251081.6_Missense_Mutation_p.S148F	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	148	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AGGACCCAAGGAGTTTTCTAG	0.403000													4	15					0	0	0.000602	0	0
OR4N5	390437	broad.mit.edu	37	14	20612336	20612336	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:20612336C>T	ENST00000333629.1	+	1	442	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ATCGTTGGTTCTGTGGCTTGG	0.493000													41	98					0	0	0.003610	0	0
COL4A3	1285	broad.mit.edu	37	2	228137770	228137770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:228137770G>A	ENST00000396578.3	+	26	2026	c.1864G>A	c.(1864-1866)Gga>Aga	p.G622R	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	622	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CGGACCCCAAGGAGAACCTGG	0.627000													11	35					0	0	0.008291	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760883	186760883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:186760883C>T	ENST00000169298.3	+	4	1066	c.392C>T	c.(391-393)cCa>cTa	p.P131L	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.P131L|ST6GAL1_ENST00000457772.2_Intron	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	131					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GGGCCAGGACCAGGCATCAAG	0.488000													11	26					0	0	0.008291	0	0
COL9A1	1297	broad.mit.edu	37	6	70963122	70963122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:70963122C>T	ENST00000357250.6	-	26	1888	c.1730G>A	c.(1729-1731)gGa>gAa	p.G577E	COL9A1_ENST00000320755.7_Missense_Mutation_p.G334E|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G334E	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	577	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACCAGGAATTCCAGGTACACC	0.368000													12	35					0	0	0.002450	0	0
SGSM1	129049	broad.mit.edu	37	22	25251354	25251354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:25251354C>T	ENST00000400358.4	+	7	683	c.626C>T	c.(625-627)tCc>tTc	p.S209F	SGSM1_ENST00000400359.4_Missense_Mutation_p.S209F	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	209						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ATCCACAGCTCCCACGTGCGG	0.622000													7	15					0	0	0.001984	0	0
OR13G1	441933	broad.mit.edu	37	1	247835886	247835886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:247835886G>A	ENST00000359688.2	-	1	479	c.458C>T	c.(457-459)tCc>tTc	p.S153F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGCACCCAGGAATTGGTGAC	0.463000													9	31					0	0	0.004482	0	0
POLL	27343	broad.mit.edu	37	10	103345144	103345144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:103345144G>A	ENST00000370162.3	-	4	996	c.502C>T	c.(502-504)Cct>Tct	p.P168S	POLL_ENST00000370169.1_Missense_Mutation_p.P168S|POLL_ENST00000370172.1_Missense_Mutation_p.P80S|POLL_ENST00000339310.3_Intron|POLL_ENST00000370158.3_Intron|POLL_ENST00000436284.2_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000299206.4_Missense_Mutation_p.P168S|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	168					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)		GGAGGAGGAGGAGAAAGGGCT	0.597000								DNA polymerases (catalytic subunits)					15	17					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179639101	179639101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179639101C>T	ENST00000589042.1	-	30	7114	c.6890G>A	c.(6889-6891)gGa>gAa	p.G2297E	TTN_ENST00000342992.6_Missense_Mutation_p.G2297E|TTN_ENST00000359218.5_Missense_Mutation_p.G2251E|TTN_ENST00000460472.2_Missense_Mutation_p.G2251E|TTN_ENST00000360870.5_Missense_Mutation_p.G2297E|TTN_ENST00000342175.6_Missense_Mutation_p.G2251E|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G2297E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2015	Ig-like 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)			ATACCATTTTCCTTCTATATT	0.393000													19	56					0	0	0.010504	0	0
AFF2	2334	broad.mit.edu	37	X	148062317	148062317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:148062317G>A	ENST00000370460.2	+	19	4099	c.3620G>A	c.(3619-3621)gGa>gAa	p.G1207E	AFF2_ENST00000370457.5_Missense_Mutation_p.G1172E|AFF2_ENST00000286437.5_Missense_Mutation_p.G848E|AFF2_ENST00000342251.3_Missense_Mutation_p.G1174E	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1207					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTAAGCAATGGAAAGTAAGTA	0.368000													22	11					0	0	0.001882	0	0
ZNF319	57567	broad.mit.edu	37	16	58031661	58031661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:58031661G>A	ENST00000299237.2	-	2	1131	c.509C>T	c.(508-510)gCt>gTt	p.A170V		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	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													208	123					0	0	0.003610	0	0
PRSS38	339501	broad.mit.edu	37	1	228033839	228033839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:228033839C>T	ENST00000366757.3	+	5	935	c.911C>T	c.(910-912)gCt>gTt	p.A304V		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	304					proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCAGCCCCTGCTCTCTCTCCA	0.532000													14	39					0	0	0.002450	0	0
NPSR1	387129	broad.mit.edu	37	7	34889193	34889193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:34889193G>A	ENST00000360581.1	+	9	1170	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	NPSR1_ENST00000381542.1_Missense_Mutation_p.D282N|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381539.3_Missense_Mutation_p.G381E|NPSR1_ENST00000531252.1_Intron	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	348						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	AAGATCACAGGATTCCAGAAT	0.448000													15	55					0	0	0.004990	0	0
HCP5	10866	broad.mit.edu	37	6	31431486	31431486	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:31431486G>A	ENST00000414046.2	+	0	558					NR_040662.1		Q6MZN7	HCP5_HUMAN							defense response					urinary_tract(1)	1						gaggccttgggaaattacctg	0.552000													18	54					0	0	0.007413	0	0
HFE	3077	broad.mit.edu	37	6	26091188	26091188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:26091188C>T	ENST00000357618.5	+	2	318	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	HFE_ENST00000353147.5_Intron|HFE_ENST00000317896.7_Missense_Mutation_p.R66C|HFE_ENST00000397022.3_Missense_Mutation_p.R43C|HFE_ENST00000309234.6_Missense_Mutation_p.R66C|HFE_ENST00000470149.1_Missense_Mutation_p.R66C|HFE_ENST00000352392.4_Intron|HFE_ENST00000336625.8_Missense_Mutation_p.R66C|HFE_ENST00000488199.1_Intron|HFE_ENST00000461397.1_Missense_Mutation_p.R66C|HFE_ENST00000349999.4_Intron	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	66	Alpha-1.		R -> C (in HFE).		antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCATGAGAGTCGCCGTGTGGA	0.522000									Hemochromatosis				42	43					0	0	0.009718	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283589	40283589	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:40283589T>A	ENST00000325157.6	-	2	414	c.164A>T	c.(163-165)aAt>aTt	p.N55I		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	55	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CCACAGCATATTCATAATCTC	0.423000													21	52					0	0	0.002780	0	0
TRAV21	28662	broad.mit.edu	37	14	22521083	22521083	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:22521083G>A	ENST00000390449.3	+	0	111																											GTCCCAGAAGGAGAAAACTTG	0.478000													13	42					0	0	0.002450	0	0
DPYD	1806	broad.mit.edu	37	1	98164976	98164976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:98164976G>A	ENST00000370192.3	-	6	711	c.611C>T	c.(610-612)tCc>tTc	p.S204F	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	204					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGCCAAAAAGGAAGCACAACT	0.393000													18	39					0	0	0.004990	0	0
OR2C1	4993	broad.mit.edu	37	16	3406086	3406086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:3406086C>T	ENST00000304936.2	+	1	198	c.146C>T	c.(145-147)tCc>tTc	p.S49F		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ATCTTGCTTTCCCGCCTGGAG	0.512000													27	81					0	0	0.006320	0	0
PTGS1	5742	broad.mit.edu	37	9	125152608	125152608	+	Silent	SNP	C	C	T	rs3842800	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:125152608C>T	ENST00000362012.2	+	10	1433	c.1428C>T	c.(1426-1428)tcC>tcT	p.S476S	PTGS1_ENST00000373698.5_Silent_p.S367S|PTGS1_ENST00000540753.1_Silent_p.S414S|PTGS1_ENST00000223423.4_Silent_p.S439S	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	476					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CCTACACCTCCTTCCAGGAGC	0.557000													7	23					0	0	0.003080	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430981	37430981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:37430981G>A	ENST00000374660.1	+	7	1087	c.988G>A	c.(988-990)Gag>Aag	p.E330K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E330K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E330K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	386						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						GATCGCATGGGAGAAAAAAGA	0.438000													24	44					0	0	0.004656	0	0
API5	8539	broad.mit.edu	37	11	43364037	43364037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:43364037C>T	ENST00000455725.2	+	15	1764	c.1519C>T	c.(1519-1521)Cgt>Tgt	p.R507C	API5_ENST00000534695.1_Intron|API5_ENST00000378852.3_3'UTR|API5_ENST00000420461.2_3'UTR|API5_ENST00000531273.1_Missense_Mutation_p.R518C|RP11-484D2.2_ENST00000526220.1_RNA			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	0					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	p.R518C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						ACGAGGAAATCGTAGTCGGGG	0.463000													5	33					0	0	0.001168	0	0
ITPR1	3708	broad.mit.edu	37	3	4706914	4706914	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:4706914C>T	ENST00000302640.8	+	16	1952	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	ITPR1_ENST00000357086.4_Silent_p.F549F|ITPR1_ENST00000456211.2_Silent_p.F534F|ITPR1_ENST00000423119.2_Silent_p.F549F|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Silent_p.F549F|ITPR1_ENST00000443694.2_Silent_p.F534F	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	549					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACGCTCCTTTCAGACACATCT	0.537000													11	35					0	0	0.008291	0	0
OVCH1	341350	broad.mit.edu	37	12	29617510	29617510	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:29617510G>A	ENST00000318184.5	-	18	2054	c.2055C>T	c.(2053-2055)ctC>ctT	p.L685L	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	685	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CGCTGTGTGGGAGACATACTG	0.458000													10	32					0	0	0.006214	0	0
VPS13A	23230	broad.mit.edu	37	9	79890467	79890467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:79890467C>T	ENST00000360280.3	+	25	2826	c.2566C>T	c.(2566-2568)Cag>Tag	p.Q856*	VPS13A_ENST00000376636.3_Nonsense_Mutation_p.Q856*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.Q856*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.Q856*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	856					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGAACCTCTTCAGTTTCCAAC	0.313000													31	53					0	0	0.003271	0	0
GBX2	2637	broad.mit.edu	37	2	237076349	237076349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:237076349C>T	ENST00000306318.4	-	1	663	c.266G>A	c.(265-267)gGc>gAc	p.G89D	AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000551105.1_Missense_Mutation_p.G89D	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	89				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGAGCAGAAGCCTGTGGGCAG	0.771000													9	11					0	0	0.000978	0	0
SLC26A3	1811	broad.mit.edu	37	7	107408071	107408071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:107408071C>T	ENST00000340010.5	-	20	2408	c.2224G>A	c.(2224-2226)Gat>Aat	p.D742N	SLC26A3_ENST00000422236.2_Missense_Mutation_p.D629N	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	742					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATGGTAAAATCAATTTTTCCA	0.323000													7	10					0	0	0.004482	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92848717	92848717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:92848717C>T	ENST00000394468.2	-	2	204	c.127G>A	c.(127-129)Ggc>Agc	p.G43S	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.G31S|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.G31S|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.G66S	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	43						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CCTCTGACGCCATGGACAGTG	0.512000													16	65					0	0	0.004007	0	0
SLC38A4	55089	broad.mit.edu	37	12	47186821	47186821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:47186821C>T	ENST00000447411.1	-	2	240	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	SLC38A4_ENST00000266579.4_Missense_Mutation_p.E12K	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	12					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TCATCTGGTTCGATGTTGACA	0.443000													18	57					0	0	0.008871	0	0
NWD1	284434	broad.mit.edu	37	19	16860477	16860477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:16860477C>T	ENST00000524140.2	+	6	1442	c.1024C>T	c.(1024-1026)Ccc>Tcc	p.P342S	NWD1_ENST00000552788.1_Missense_Mutation_p.P342S|NWD1_ENST00000523826.1_Missense_Mutation_p.P136S|NWD1_ENST00000549814.1_Missense_Mutation_p.P342S|NWD1_ENST00000379808.3_Missense_Mutation_p.P342S|NWD1_ENST00000339803.6_Missense_Mutation_p.P207S	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	342	NACHT.						ATP binding			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						ACTCTTTGGGCCCCCAGGCAT	0.632000													10	24					0	0	0.006214	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701850	8701850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:8701850G>A	ENST00000329805.4	-	1	817	c.589C>T	c.(589-591)Cat>Tat	p.H197Y		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	197						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						TCCCAGGGATGATCTTTCAGC	0.562000													24	59					0	0	0.002780	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068513	103068513	+	Missense_Mutation	SNP	C	C	T	rs149244380	by1000genomes	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:103068513C>T	ENST00000264260.2	+	12	2261	c.1672C>T	c.(1672-1674)Cac>Tac	p.H558Y	IL18RAP_ENST00000409369.1_Missense_Mutation_p.H416Y	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	558	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AATGCGCTACCACATGCCTGT	0.458000													46	76					0	0	0.003610	0	0
RP11-344E13.3	0	broad.mit.edu	37	17	20805643	20805643	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:20805643G>A	ENST00000577537.1	+	0	827				RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA																							AGACGACGACGAAGTCTCCCA	0.557000													12	31					0	0	0.001855	0	0
DCC	1630	broad.mit.edu	37	18	50976915	50976915	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:50976915C>T	ENST00000442544.2	+	23	3891	c.3275C>T	c.(3274-3276)cCt>cTt	p.P1092L	DCC_ENST00000581580.1_Missense_Mutation_p.P727L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1092					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)		AGTGTCACTCCTCAGAAGAAC	0.512000													13	36					0	0	0.001368	0	0
ENTPD8	377841	broad.mit.edu	37	9	140331429	140331429	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:140331429G>A	ENST00000371506.2	-	5	630	c.447C>T	c.(445-447)gtC>gtT	p.V149V	ENTPD8_ENST00000472938.1_Silent_p.V149V|ENTPD8_ENST00000344119.2_Silent_p.V149V	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	149						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		ACCGGCCCAGGACCTGGGTGA	0.662000													18	37					0	0	0.006122	0	0
DNAH8	1769	broad.mit.edu	37	6	38998124	38998124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:38998124C>T	ENST00000359357.3	+	91	13683	c.13429C>T	c.(13429-13431)Cac>Tac	p.H4477Y	DNAH8_ENST00000441566.1_Missense_Mutation_p.H4441Y					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTCCCCGGATCACTGGATCCT	0.478000													23	59					0	0	0.002299	0	0
NRXN3	9369	broad.mit.edu	37	14	79454459	79454459	+	Silent	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:79454459T>C	ENST00000554719.1	+	12	2609	c.2118T>C	c.(2116-2118)tcT>tcC	p.S706S	NRXN3_ENST00000335750.5_Silent_p.S706S	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTATGACCTCTTATTCTGGAA	0.443000													19	29					0	0	0.002780	0	0
TAAR6	319100	broad.mit.edu	37	6	132891845	132891845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:132891845G>A	ENST00000275198.1	+	1	385	c.385G>A	c.(385-387)Gac>Aac	p.D129N		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	129						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		CATCTCCATCGACAGGTACAT	0.483000													57	202					0	0	0.003610	0	0
ZNF597	146434	broad.mit.edu	37	16	3486612	3486612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:3486612G>A	ENST00000301744.4	-	4	1322	c.1087C>T	c.(1087-1089)Cat>Tat	p.H363Y	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TCCTCTGTATGAATGTTCtga	0.448000													4	3					0	0	0.009096	0	0
PCSK5	5125	broad.mit.edu	37	9	78947362	78947362	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:78947362G>A	ENST00000545128.1	+	33	5041	c.4503G>A	c.(4501-4503)gtG>gtA	p.V1501V		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	671					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CAACCTGTGTGAAGGACTGCC	0.527000													9	32					0	0	0.006214	0	0
FDX1L	112812	broad.mit.edu	37	19	10421288	10421288	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:10421288G>A	ENST00000393708.3	-	5	444	c.426C>T	c.(424-426)ctC>ctT	p.L142L	FDX1L_ENST00000541276.1_Intron|FDX1L_ENST00000494368.1_Silent_p.L7L|FDX1L_ENST00000492239.1_5'UTR|CTD-2369P2.10_ENST00000452032.2_Intron	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	142	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			TCTCCTGGAGGAGGGGGGCCA	0.632000													15	39					0	0	0.004007	0	0
SEZ6	124925	broad.mit.edu	37	17	27285069	27285069	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:27285069A>T	ENST00000317338.12	-	11	2626	c.2198T>A	c.(2197-2199)gTg>gAg	p.V733E	SEZ6_ENST00000360295.9_Missense_Mutation_p.V733E|SEZ6_ENST00000442608.3_Missense_Mutation_p.V733E|SEZ6_ENST00000335960.6_Intron|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	733	Sushi 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GTAAGTGACCACGGTGCCGTG	0.612000													17	36					0	0	0.004990	0	0
ATP10D	57205	broad.mit.edu	37	4	47514830	47514830	+	Silent	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:47514830A>G	ENST00000273859.3	+	2	542	c.273A>G	c.(271-273)ttA>ttG	p.L91L	ATP10D_ENST00000504445.1_Silent_p.L91L	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	91					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CAAGAAATTTATTTGAACAAT	0.318000													9	21					0	0	0.006214	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281442	49281442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:49281442G>A	ENST00000282018.3	+	1	492	c.489G>A	c.(487-489)tgG>tgA	p.W163*		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	163					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	GGATCATATGGATCCTTATCA	0.498000													20	64					0	0	0.002299	0	0
MACC1	346389	broad.mit.edu	37	7	20199749	20199749	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:20199749C>T	ENST00000400331.5	-	5	543	c.235G>A	c.(235-237)Gat>Aat	p.D79N	MACC1_ENST00000589011.1_Missense_Mutation_p.D79N|MACC1_ENST00000332878.4_Missense_Mutation_p.D79N	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	79					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GTTATGTCATCCAAAAATGGG	0.358000													13	23					0	0	0.002450	0	0
ATP8A1	10396	broad.mit.edu	37	4	42577650	42577650	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:42577650C>T	ENST00000381668.5	-	13	1426	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E399K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	399					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGGCCAAGTTCCTCATTCAGA	0.358000													33	79					0	0	0.004289	0	0
XDH	7498	broad.mit.edu	37	2	31621561	31621561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:31621561C>T	ENST00000379416.3	-	5	359	c.311G>A	c.(310-312)aGa>aAa	p.R104K		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	104					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)	TTTGGCAATTCTCTCCTAAAA	0.557000													30	68					0	0	0.002445	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781298	128781298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:128781298G>A	ENST00000529694.1	+	2	506	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	KCNJ5_ENST00000338350.4_Missense_Mutation_p.A44T|KCNJ5_ENST00000533599.1_Missense_Mutation_p.A44T	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	44					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GCGCCTGCTGGCCGAGGGCAA	0.597000													28	50					0	0	0.008361	0	0
ANO2	57101	broad.mit.edu	37	12	5915235	5915235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:5915235C>T	ENST00000546188.1	-	9	1035	c.964G>A	c.(964-966)Gat>Aat	p.D322N	ANO2_ENST00000356134.5_Missense_Mutation_p.D322N|ANO2_ENST00000327087.8_Missense_Mutation_p.D321N			Q9NQ90	ANO2_HUMAN	anoctamin 2	326						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCATTCATATCGTCCTCTGGA	0.478000													4	16					0	0	0.000602	0	0
NR2C2	7182	broad.mit.edu	37	3	15057668	15057668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:15057668G>A	ENST00000425241.1	+	4	645	c.283G>A	c.(283-285)Gat>Aat	p.D95N	NR2C2_ENST00000323373.6_Missense_Mutation_p.D114N|NR2C2_ENST00000406272.2_Missense_Mutation_p.D95N|NR2C2_ENST00000393102.3_Missense_Mutation_p.D95N			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	95					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GATTGTCACGGATTCTGCCTC	0.532000													19	48					0	0	0.010504	0	0
ENPP1	5167	broad.mit.edu	37	6	132189168	132189168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:132189168C>T	ENST00000360971.2	+	12	1195	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	392	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GTCATCAAAGCCTTGCAGAGG	0.393000													22	60					0	0	0.005443	0	0
STXBP5L	9515	broad.mit.edu	37	3	121100148	121100148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:121100148G>A	ENST00000273666.6	+	23	2699	c.2428G>A	c.(2428-2430)Gaa>Aaa	p.E810K	STXBP5L_ENST00000497029.1_Missense_Mutation_p.E784K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E786K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E786K|STXBP5L_ENST00000492541.1_Missense_Mutation_p.E810K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	810					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGAAAACCGAGAAAATTCCTA	0.294000													14	35					0	0	0.002450	0	0
ABCA12	26154	broad.mit.edu	37	2	215845258	215845258	+	Silent	SNP	G	G	A	rs138177557	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:215845258G>A	ENST00000272895.7	-	31	4908	c.4689C>T	c.(4687-4689)taC>taT	p.Y1563Y	ABCA12_ENST00000389661.4_Silent_p.Y1245Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1563	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTCCTTGAGGTAAAATGGGG	0.493000													23	45					0	0	0.002299	0	0
MAGEA12	4111	broad.mit.edu	37	X	151899902	151899902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:151899902G>A	ENST00000393900.3	-	3	1252	c.899C>T	c.(898-900)tCc>tTc	p.S300F	MAGEA12_ENST00000357916.4_Missense_Mutation_p.S300F|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.S300F	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	300	MAGE.			S -> P (in Ref. 1; AAA19023).						breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTGGGTAGGAAATGTGAGG	0.567000													39	35					0	0	0.007835	0	0
OR6C75	390323	broad.mit.edu	37	12	55759618	55759618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:55759618C>T	ENST00000343399.3	+	1	724	c.724C>T	c.(724-726)Cat>Tat	p.H242Y		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TTGCTCCTCCCATATGATAGT	0.398000													16	29					0	0	0.003163	0	0
AGBL1	123624	broad.mit.edu	37	15	86697687	86697687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:86697687G>A	ENST00000441037.2	+	3	246	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	AGBL1_ENST00000421325.2_Missense_Mutation_p.E51K	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	51					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GAAGGCCCTAGAATTGGAAGC	0.448000													4	14					0	0	0.009096	0	0
ACER1	125981	broad.mit.edu	37	19	6312490	6312490	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:6312490G>A	ENST00000301452.4	-	2	191	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	38						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GCCCGAAGATGAAGAAGGGGA	0.557000													26	67					0	0	0.008361	0	0
NACA2	342538	broad.mit.edu	37	17	59668312	59668312	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:59668312C>T	ENST00000521764.1	-	1	251	c.230G>A	c.(229-231)cGg>cAg	p.R77Q		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	77	NAC-A/B.				protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					CATAGCCTTCCGTGCCCTCTT	0.463000													78	94					0	0	0.003610	0	0
ATP2B3	492	broad.mit.edu	37	X	152826321	152826321	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:152826321C>T	ENST00000370186.1	+	17	3311	c.2985C>T	c.(2983-2985)atC>atT	p.I995I	ATP2B3_ENST00000263519.4_Silent_p.I1009I|ATP2B3_ENST00000370181.2_Silent_p.I995I|ATP2B3_ENST00000393842.1_Silent_p.I995I|ATP2B3_ENST00000359149.3_Silent_p.I1009I|ATP2B3_ENST00000349466.2_Silent_p.I1009I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1009					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTGCACCATCGTTTTGGGCA	0.567000													15	10					0	0	0.002450	0	0
PRKACG	5568	broad.mit.edu	37	9	71628115	71628115	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:71628115G>A	ENST00000377276.2	-	1	924	c.894C>T	c.(892-894)ttC>ttT	p.F298F		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	298	Protein kinase.				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	p.F298L(1)		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						TGGTTGTGGCGAACCACTTGT	0.567000													30	68					0	0	0.003755	0	0
ASXL3	80816	broad.mit.edu	37	18	31323549	31323549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:31323549C>T	ENST00000269197.5	+	12	3737	c.3737C>T	c.(3736-3738)tCg>tTg	p.S1246L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1246	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACTGCTATATCGGGAGCAATT	0.368000													8	35					0	0	0.004482	0	0
SLC9A3	6550	broad.mit.edu	37	5	488572	488572	+	Silent	SNP	C	C	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:488572C>A	ENST00000264938.3	-	3	543	c.534G>T	c.(532-534)ctG>ctT	p.L178L	SLC9A3_ENST00000514375.1_Silent_p.L178L	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	178						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGAAGTCCAGCAGCCCAATCT	0.677000													3	5					0.00909568	0.00926853	0.009096	1	0
CRISP2	7180	broad.mit.edu	37	6	49668450	49668450	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:49668450C>T	ENST00000339139.4	-	5	350	c.114G>A	c.(112-114)agG>agA	p.R38R		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	38						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTACAATCTCCCTTTGCACTT	0.363000													14	39					0	0	0.002450	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481080	140481080	+	Missense_Mutation	SNP	C	C	T	rs17844390		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140481080C>T	ENST00000231130.2	+	1	847	c.847C>T	c.(847-849)Cat>Tat	p.H283Y	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		283	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCATTTTTTCATGCTTCTGA	0.358000													8	31					0	0	0.006214	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457597	45457597	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:45457597C>T	ENST00000548424.1	+	0	448																											CCTGTAACATCGTCACTGGTT	0.498000													3	13					0	0	0.009096	0	0
SLC4A9	83697	broad.mit.edu	37	5	139740441	139740441	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:139740441G>A	ENST00000230993.6	+	2	382	c.347G>A	c.(346-348)tGg>tAg	p.W116*	SLC4A9_ENST00000507527.1_Nonsense_Mutation_p.W116*|SLC4A9_ENST00000506757.2_Nonsense_Mutation_p.W92*|SLC4A9_ENST00000506545.1_Nonsense_Mutation_p.W92*|SLC4A9_ENST00000432095.2_Nonsense_Mutation_p.W92*	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	116						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)			GCAGGCCGGTGGAGTGCCCCC	0.622000													13	18					0	0	0.004007	0	0
APBA1	320	broad.mit.edu	37	9	72047517	72047517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:72047517C>T	ENST00000265381.4	-	12	2599	c.2377G>A	c.(2377-2379)Gga>Aga	p.G793R		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	793	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						ACGCTCTGTCCATTGATTTCA	0.592000													16	43					0	0	0.003163	0	0
DISP1	84976	broad.mit.edu	37	1	223177379	223177379	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:223177379C>T	ENST00000284476.6	+	8	2804	c.2640C>T	c.(2638-2640)ccC>ccT	p.P880P		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	880					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGAGCTTCCCCTACAAGCAAG	0.502000													118	291					0	0	0.003610	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754734	94754734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:94754734C>T	ENST00000554723.1	-	3	1419	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E	SERPINA10_ENST00000261994.4_Missense_Mutation_p.G294E|SERPINA10_ENST00000393096.1_Missense_Mutation_p.G294E|SERPINA10_ENST00000554173.1_Missense_Mutation_p.G294E			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	294					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGTGGCATTTCCTTGGTAGGG	0.502000													14	31					0	0	0.004007	0	0
TRBC2	28638	broad.mit.edu	37	7	142499643	142499643	+	RNA	SNP	C	C	T	rs1126990		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:142499643C>T	ENST00000466254.1	+	0	403																											GGCTTCACCTCCGGTAAGTGA	0.507000													95	256					0	0	0.003610	0	0
GSTA1	2938	broad.mit.edu	37	6	52657738	52657738	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:52657738G>C	ENST00000334575.5	-	6	617	c.462C>G	c.(460-462)agC>agG	p.S154R	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	154	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	TGTCAGCCCGGCTCAGCTTGT	0.517000													37	93					0	0	0.005524	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122172	12122172	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:12122172C>T	ENST00000379388.2	+	4	2476	c.2144C>T	c.(2143-2145)aCc>aTc	p.T715I		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	715					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCTCTTGTCACCACGTCAACA	0.532000													5	38					0	0	0.001168	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203619	140203619	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140203619G>A	ENST00000529859.1	+	1	2259	c.2259G>A	c.(2257-2259)agG>agA	p.R753R	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Silent_p.R753R|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.R753R|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGCAGAGGAGACAGAGGG	0.632000													18	35					0	0	0.004990	0	0
MMP13	4322	broad.mit.edu	37	11	102824925	102824925	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:102824925G>A	ENST00000260302.3	-	4	625	c.597C>T	c.(595-597)gcC>gcT	p.A199A	MMP13_ENST00000340273.4_Silent_p.A199A	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	199					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		CATCAAAATGGGCATCTCCTC	0.423000													6	29					0	0	0.001984	0	0
FAM19A1	407738	broad.mit.edu	37	3	68587994	68587994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:68587994G>A	ENST00000478136.1	+	4	837	c.347G>A	c.(346-348)tGg>tAg	p.W116*	FAM19A1_ENST00000496687.1_Nonsense_Mutation_p.W116*	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	116						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		AATTCTGGATGGATGTGCGCA	0.428000													9	28					0	0	0.004482	0	0
RANGAP1	5905	broad.mit.edu	37	22	41660766	41660766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:41660766C>T	ENST00000455915.2	-	4	1851	c.382G>A	c.(382-384)Ggt>Agt	p.G128S	RANGAP1_ENST00000405486.1_Missense_Mutation_p.G128S|RANGAP1_ENST00000407260.4_Missense_Mutation_p.G118S|RANGAP1_ENST00000356244.3_Missense_Mutation_p.G128S			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	128					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTTGCACACCGTCGGGCCCG	0.602000													9	35					0	0	0.004482	0	0
APOBR	55911	broad.mit.edu	37	16	28509501	28509501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:28509501C>T	ENST00000564831.1	+	3	3088	c.3055C>T	c.(3055-3057)Cgg>Tgg	p.R1019W	APOBR_ENST00000328423.5_Missense_Mutation_p.R1010W|APOBR_ENST00000431282.1_Missense_Mutation_p.R1010W	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	1010					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CTCTTTTCGTCGGACTCCGGC	0.682000													7	4					0	0	0.001984	0	0
PSG1	5669	broad.mit.edu	37	19	43372272	43372272	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:43372272G>A	ENST00000244296.2	-	5	1361	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	PSG1_ENST00000436291.2_Silent_p.S408S|PSG1_ENST00000403380.3_Silent_p.S315S|PSG1_ENST00000312439.6_Silent_p.S408S|PSG1_ENST00000595356.1_Silent_p.S408S|PSG1_ENST00000595124.1_Silent_p.S315S	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CGACTGTCATGGATTTGGAGC	0.458000													57	149					0	0	0.003610	0	0
NDST1	3340	broad.mit.edu	37	5	149901282	149901282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:149901282G>A	ENST00000261797.6	+	2	968	c.466G>A	c.(466-468)Gac>Aac	p.D156N	NDST1_ENST00000523767.1_Missense_Mutation_p.D156N	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	156	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGCTGCTGGACAAGTACTG	0.587000													39	98					0	0	0.002852	0	0
KHDC1	80759	broad.mit.edu	37	6	73951815	73951815	+	Silent	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:73951815A>G	ENST00000423730.3	-	3	693	c.258T>C	c.(256-258)tgT>tgC	p.C86C	KHDC1_ENST00000370384.3_Silent_p.C159C|KHDC1_ENST00000257765.5_Silent_p.C86C																							TCCCCACACAACAAAACATGT	0.522000													5	35					0	0	0.000602	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332964	100332964	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:100332964G>A	ENST00000341853.1	-	0	1227					NR_003260.1																						GGGCAGGCAGGGGCAGGGGAG	0.617000													6	30					0	0	0.004482	0	0
OBSCN	84033	broad.mit.edu	37	1	228528804	228528804	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:228528804C>T	ENST00000570156.2	+	84	20651	c.20577C>T	c.(20575-20577)ttC>ttT	p.F6859F	OBSCN_ENST00000366707.4_Silent_p.F3536F|OBSCN_ENST00000284548.11_Silent_p.F5902F|OBSCN_ENST00000422127.1_Silent_p.F5902F|OBSCN_ENST00000366709.4_Silent_p.F3021F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5902					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGGCCACTTCATCGTGTGGG	0.682000													6	14					0	0	0.003080	0	0
CASP10	843	broad.mit.edu	37	2	202073798	202073798	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:202073798C>T	ENST00000286186.6	+	9	1363	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	CASP10_ENST00000272879.5_Silent_p.L310L|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000313728.7_Silent_p.L243L|CASP10_ENST00000448480.1_Silent_p.L267L|CASP10_ENST00000346817.5_Silent_p.L267L	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	310					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						AACAGAGATCCTGAGTCATGT	0.378000													14	21					0	0	0.001855	0	0
HLA-F-AS1	285830	broad.mit.edu	37	6	29713458	29713458	+	RNA	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:29713458T>C	ENST00000458236.1	-	0	140																											ACTGCACAGATCCATCCTGGG	0.552000													9	29					0	0	0.008291	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354227	45354227	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:45354227C>T	ENST00000359271.2	+	2	802	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	184						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)				GCCTCCTCTTCCTCCCTGCTG	0.627000													15	40					0	0	0.002450	0	0
IGSF9B	22997	broad.mit.edu	37	11	133807341	133807341	+	Silent	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:133807341T>C	ENST00000321016.8	-	5	839	c.609A>G	c.(607-609)agA>agG	p.R203R	IGSF9B_ENST00000533871.2_Silent_p.R203R			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	203	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGTAGGCACCTCTGTCCTCCC	0.607000													6	19					0	0	0.001984	0	0
CDC45	8318	broad.mit.edu	37	22	19495387	19495387	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:19495387G>A	ENST00000407835.1	+	13	1311	c.1055_splice	c.e13+1	p.G352_splice	CDC45_ENST00000404724.3_Splice_Site_p.G306_splice|CDC45_ENST00000263201.1_Splice_Site_p.G352_splice|CDC45_ENST00000437685.2_Splice_Site_p.G384_splice			O75419	CDC45_HUMAN	cell division cycle 45	352					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						AATAAATTTGGGTAAACACAC	0.388000													14	39					0	0	0.001855	0	0
OR13C4	138804	broad.mit.edu	37	9	107288635	107288635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:107288635C>T	ENST00000277216.3	-	1	855	c.856G>A	c.(856-858)Gtt>Att	p.V286I		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GGGGTCACAACCCCATAAAAC	0.403000													14	34					0	0	0.001855	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140810551	140810551	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140810551C>T	ENST00000252085.3	+	1	367	c.225C>T	c.(223-225)ttC>ttT	p.F75F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGCTTTTCGCCCTGAATC	0.632000													28	57					0	0	0.007291	0	0
MORC1	27136	broad.mit.edu	37	3	108780899	108780899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:108780899G>A	ENST00000232603.5	-	11	984	c.902C>T	c.(901-903)tCc>tTc	p.S301F	MORC1_ENST00000483760.1_Missense_Mutation_p.S301F	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	301					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						TTTCAATATGGATTCAGCTGG	0.343000													17	30					0	0	0.004007	0	0
ABCC12	94160	broad.mit.edu	37	16	48175116	48175116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:48175116C>T	ENST00000311303.3	-	3	769	c.424G>A	c.(424-426)Gtg>Atg	p.V142M	ABCC12_ENST00000416054.1_Splice_Site|ABCC12_ENST00000448542.1_Splice_Site	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	142	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)				GCCGCACTCACCGGCCCTATG	0.547000													8	18					0	0	0.004482	0	0
LTN1	26046	broad.mit.edu	37	21	30304892	30304892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:30304892G>A	ENST00000361371.4	-	28	5120	c.4970C>T	c.(4969-4971)cCa>cTa	p.P1657L	LTN1_ENST00000389194.2_Missense_Mutation_p.P1703L	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1657							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TGAACCCAGTGGATAATTTGA	0.418000													40	73					0	0	0.005524	0	0
SMTN	6525	broad.mit.edu	37	22	31489862	31489862	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:31489862C>T	ENST00000404574.1	+	1	519	c.429_splice	c.e1+1	p.L143_splice	SMTN_ENST00000333137.7_Intron|SMTN_ENST00000347557.2_Intron|SMTN_ENST00000358743.1_Intron			P53814	SMTN_HUMAN	smoothelin	544					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCACTAGTCTCGTAAGTGCTT	0.612000													3	7					0	0	0.009096	0	0
OR10H1	26539	broad.mit.edu	37	19	15917966	15917966	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:15917966C>T	ENST00000334920.2	-	1	970	c.882G>A	c.(880-882)agG>agA	p.R294R		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GCTCCTTGTTCCTGAGGCTGA	0.478000													6	25					0	0	0.001168	0	0
GPR139	124274	broad.mit.edu	37	16	20043675	20043675	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:20043675G>A	ENST00000570682.1	-	2	744	c.444C>T	c.(442-444)gtC>gtT	p.V148V		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	148						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CACTTACAATGACTTTCCGGG	0.512000													31	74					0	0	0.002096	0	0
TBC1D29	26083	broad.mit.edu	37	17	28890221	28890221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:28890221C>T	ENST00000584297.1	+	4	331	c.182C>T	c.(181-183)cCc>cTc	p.P61L	TBC1D29_ENST00000580161.1_Silent_p.A77A|TBC1D29_ENST00000579181.1_Silent_p.A77A			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	0						intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				CTCACAGGGCCCTCAAGGGCA	0.632000													3	7					0	0	0.004672	0	0
NWD1	284434	broad.mit.edu	37	19	16902315	16902315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:16902315G>A	ENST00000524140.2	+	14	3513	c.3095G>A	c.(3094-3096)gGa>gAa	p.G1032E	NWD1_ENST00000552788.1_Missense_Mutation_p.G1032E|NWD1_ENST00000523826.1_Missense_Mutation_p.G826E|NWD1_ENST00000549814.1_Missense_Mutation_p.G1032E|NWD1_ENST00000379808.3_Missense_Mutation_p.G1032E|NWD1_ENST00000339803.6_Missense_Mutation_p.G897E	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1032							ATP binding			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						TCAGCTACGGGAAAACTTCAG	0.547000													12	25					0	0	0.000978	0	0
FREM1	158326	broad.mit.edu	37	9	14859353	14859353	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:14859353C>T	ENST00000380881.4	-	5	1274	c.459G>A	c.(457-459)gcG>gcA	p.A153A	FREM1_ENST00000380880.3_Silent_p.A153A|FREM1_ENST00000422223.2_Silent_p.A153A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	153					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTTTATCAATCGCTTGGGACA	0.488000													37	34					0	0	0.006999	0	0
C8B	732	broad.mit.edu	37	1	57399040	57399040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:57399040G>A	ENST00000543257.1	-	11	1930	c.1364C>T	c.(1363-1365)cCc>cTc	p.P455L	C8B_ENST00000371237.4_Missense_Mutation_p.P507L|C8B_ENST00000535057.1_Missense_Mutation_p.P445L	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	507	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TCCTTGGCAGGGAGCACAGTG	0.552000													17	44					0	0	0.006122	0	0
COL20A1	57642	broad.mit.edu	37	20	61939340	61939340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:61939340G>A	ENST00000422202.1	+	6	762	c.694G>A	c.(694-696)Ggg>Agg	p.G232R	COL20A1_ENST00000358894.6_Missense_Mutation_p.G225R|COL20A1_ENST00000326996.6_Missense_Mutation_p.G225R|COL20A1_ENST00000435874.1_Missense_Mutation_p.G232R			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	225	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TCAGTACAGCGGGGATGCTCA	0.632000													7	26					0	0	0.001984	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	RNA	SNP	C	C	T	rs143443709	by1000genomes	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:141070139C>T	ENST00000503395.1	+	0	1219																		p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667000													4	66					0	0	0.001984	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870544	140870544	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140870544C>T	ENST00000252087.1	+	1	1737	c.1737C>T	c.(1735-1737)ctC>ctT	p.L579L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		579	Cadherin 6.				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)			CCCAGCGTCTCCCTCGCTCTG	0.587000													7	28					0	0	0.004482	0	0
GABRE	2564	broad.mit.edu	37	X	151138709	151138709	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:151138709G>A	ENST00000370325.1	-	2	275	c.222C>T	c.(220-222)atC>atT	p.I74I	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Silent_p.I74I			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	74					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTGTTCAGGATGCGAGAGG	0.537000													33	22					0	0	0.003755	0	0
NLRP8	126205	broad.mit.edu	37	19	56466362	56466362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:56466362C>T	ENST00000291971.3	+	3	1009	c.938C>T	c.(937-939)tCt>tTt	p.S313F	NLRP8_ENST00000590542.1_Missense_Mutation_p.S313F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	313	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGCCTGGGTCTGTCCTACTG	0.507000													13	59					0	0	0.001855	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20490586	20490586	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:20490586C>T	ENST00000555186.1	+	0	566					NR_038836.1																						ACTGTGGCTTCAGGTGGGTGT	0.468000													20	272					0	0	0.002299	0	0
CD163L1	283316	broad.mit.edu	37	12	7559373	7559373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:7559373C>T	ENST00000313599.3	-	5	899	c.842G>A	c.(841-843)gGa>gAa	p.G281E	CD163L1_ENST00000416109.2_Missense_Mutation_p.G291E|CD163L1_ENST00000396630.1_Missense_Mutation_p.G281E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	281	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCCACCTTCCTTGGATTTT	0.478000													19	56					0	0	0.008871	0	0
COBLL1	22837	broad.mit.edu	37	2	165551054	165551054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:165551054G>A	ENST00000375458.2	-	11	3069	c.2848C>T	c.(2848-2850)Ccc>Tcc	p.P950S	COBLL1_ENST00000194871.6_Missense_Mutation_p.P1055S|COBLL1_ENST00000342193.4_Missense_Mutation_p.P988S|COBLL1_ENST00000392717.2_Missense_Mutation_p.P1026S|COBLL1_ENST00000409184.3_Missense_Mutation_p.P988S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1026										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GGAGCTATGGGAGGAGGGGAG	0.463000													13	32					0	0	0.002450	0	0
MAPK4	5596	broad.mit.edu	37	18	48190536	48190536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:48190536C>T	ENST00000400384.2	+	2	1244	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	MAPK4_ENST00000588540.1_Missense_Mutation_p.R70W|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000592595.1_Missense_Mutation_p.R70W	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	70	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CAAGATCATTCGGCGCCTGGA	0.607000													21	32					0	0	0.002780	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26107822	26107822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:26107822C>T	ENST00000338379.4	-	1	542	c.500G>A	c.(499-501)gGg>gAg	p.G167E		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	167					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						AGCCTTTCTCCCGCTCCTAAC	0.468000													21	91					0	0	0.001882	0	0
OR13C5	138799	broad.mit.edu	37	9	107361157	107361157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:107361157C>T	ENST00000374779.2	-	1	631	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GCTAGAATTTCACAGGTGAAA	0.423000													28	68					0	0	0.005443	0	0
CACNB4	785	broad.mit.edu	37	2	152727112	152727112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:152727112G>A	ENST00000360283.6	-	7	790	c.533C>T	c.(532-534)cCt>cTt	p.P178L	CACNB4_ENST00000539935.1_Missense_Mutation_p.P211L|CACNB4_ENST00000201943.5_Missense_Mutation_p.P211L|CACNB4_ENST00000397327.2_Missense_Mutation_p.P164L|CACNB4_ENST00000534999.1_Missense_Mutation_p.P177L|CACNB4_ENST00000427385.1_Missense_Mutation_p.P193L			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	211					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)	ATCGTAAGGAGGAATGTGCTC	0.463000													7	7					0	0	0.001984	0	0
DNAH7	56171	broad.mit.edu	37	2	196749415	196749415	+	Missense_Mutation	SNP	C	C	T	rs13034775		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:196749415C>T	ENST00000312428.6	-	35	5757	c.5657G>A	c.(5656-5658)cGa>cAa	p.R1886Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1886			R -> Q (in dbSNP:rs13034775).		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						AAACGTATTTCGAGTTCGATC	0.358000													10	28					0	0	0.008291	0	0
ZIM3	114026	broad.mit.edu	37	19	57646543	57646543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:57646543C>T	ENST00000269834.1	-	5	1547	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAGGGCTTTTCCCCAGTATGG	0.388000													17	67					0	0	0.004007	0	0
DCDC2	51473	broad.mit.edu	37	6	24301956	24301956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:24301956C>T	ENST00000378454.3	-	4	845	c.544G>A	c.(544-546)Ggg>Agg	p.G182R		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	182	Doublecortin 2.				cellular defense response|intracellular signal transduction|neuron migration			p.G182W(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TGAACAGCCCCGCTCCTCAGA	0.448000													31	103					0	0	0.002836	0	0
TTLL7	79739	broad.mit.edu	37	1	84385483	84385483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:84385483C>T	ENST00000260505.8	-	13	1776	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	467					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TCATACTTTTCAAGTAATGCT	0.343000													13	47					0	0	0.004007	0	0
C12orf50	160419	broad.mit.edu	37	12	88376914	88376914	+	Silent	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:88376914T>C	ENST00000298699.2	-	12	1365	c.1185A>G	c.(1183-1185)tcA>tcG	p.S395S	C12orf50_ENST00000550553.1_Silent_p.S356S	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	395										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AATATGTTTTTGAAAAAGGAA	0.269000													15	50					0	0	0.006122	0	0
EGFR	1956	broad.mit.edu	37	7	55233114	55233114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:55233114C>T	ENST00000275493.2	+	15	2041	c.1864C>T	c.(1864-1866)Cca>Tca	p.P622S	EGFR_ENST00000344576.2_Missense_Mutation_p.P622S|EGFR_ENST00000455089.1_Missense_Mutation_p.P577S|EGFR_ENST00000342916.3_Missense_Mutation_p.P622S|EGFR_ENST00000442591.1_Missense_Mutation_p.P622S|EGFR_ENST00000454757.2_Missense_Mutation_p.P569S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	622					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			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)	CCTGTGCCATCCAAACTGCAC	0.532000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			12	37					0	0	0.001855	0	0
FRAS1	80144	broad.mit.edu	37	4	79373339	79373339	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:79373339C>T	ENST00000264895.6	+	47	7034	c.6594C>T	c.(6592-6594)tcC>tcT	p.S2198S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2197					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						AAGACAAATCCCCACCAGTCA	0.458000													9	36					0	0	0.006214	0	0
PRDM1	639	broad.mit.edu	37	6	106555155	106555155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:106555155G>A	ENST00000369096.4	+	7	2506	c.2272G>A	c.(2272-2274)Gaa>Aaa	p.E758K	PRDM1_ENST00000369091.2_Missense_Mutation_p.E722K|PRDM1_ENST00000369089.3_Missense_Mutation_p.E624K	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	758					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AGTGGAGAAGGAAATTCTGGC	0.483000			"""D, N, Mis, F, S"""		DLBCL								25	95					0	0	0.003330	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715802	68715802	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:68715802G>T	ENST00000325631.5	+	2	664	c.590G>T	c.(589-591)gGt>gTt	p.G197V	MARVELD2_ENST00000413223.2_Missense_Mutation_p.G197V	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	197	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		AGAATACTGGGTGTGGTGGAG	0.493000													28	75					4.22769e-11	4.34793e-11	0.006320	1	0
ZNF667	63934	broad.mit.edu	37	19	56953217	56953217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:56953217C>T	ENST00000504904.3	-	7	1866	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	ZNF667_ENST00000292069.6_Missense_Mutation_p.E383K|ZNF667_ENST00000342634.3_Missense_Mutation_p.E511K|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TATAGTTTTTCTCCATTATGA	0.353000													15	29					0	0	0.002450	0	0
HBS1L	10767	broad.mit.edu	37	6	135290425	135290425	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:135290425T>A	ENST00000367837.5	-	16	2055	c.1849A>T	c.(1849-1851)Att>Ttt	p.I617F	HBS1L_ENST00000367826.2_Missense_Mutation_p.I575F|HBS1L_ENST00000527578.1_Missense_Mutation_p.I453F|HBS1L_ENST00000415177.2_Missense_Mutation_p.I552F|HBS1L_ENST00000445176.2_Missense_Mutation_p.I341F|HBS1L_ENST00000367824.4_Missense_Mutation_p.I453F	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	617					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AAGACACTAATCAATCGTTTA	0.338000													7	30					0	0	0.008291	0	0
THSD7B	80731	broad.mit.edu	37	2	138414698	138414698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:138414698G>A	ENST00000409968.1	+	24	4521	c.4343G>A	c.(4342-4344)tGg>tAg	p.W1448*	THSD7B_ENST00000543459.1_Missense_Mutation_p.G283S|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.W1420*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.W1451*					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGAACTGTATGGTGCCAGCGT	0.413000													14	41					0	0	0.004007	0	0
DPYD	1806	broad.mit.edu	37	1	97547948	97547948	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:97547948C>T	ENST00000370192.3	-	22	2945	c.2845G>A	c.(2845-2847)Gat>Aat	p.D949N		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	949	4Fe-4S ferredoxin-type 2.				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATTTCTTCATCAATCATAGCC	0.393000													26	47					0	0	0.005443	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603627	28603627	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:28603627G>A	ENST00000533150.1	-	3	1749	c.633C>T	c.(631-633)cgC>cgT	p.R211R	SULT1A2_ENST00000395630.1_Silent_p.R244R|SULT1A2_ENST00000335715.4_Silent_p.R244R			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	244					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TGAACTCCCGGCGGACGGTGG	0.607000													32	92					0	0	0.004878	0	0
LCE1A	353131	broad.mit.edu	37	1	152800122	152800122	+	Silent	SNP	C	C	T	rs148143373	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:152800122C>T	ENST00000335123.2	+	1	174	c.174C>T	c.(172-174)ggC>ggT	p.G58G		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	58	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTCTGGGGGCGGCTGCAGCT	0.667000													6	51					0	0	0.003080	0	0
SSH2	85464	broad.mit.edu	37	17	27998981	27998981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:27998981G>A	ENST00000269033.3	-	8	851	c.700C>T	c.(700-702)Ccc>Tcc	p.P234S	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.P261S	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	234					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAGAGTCGGGCCGGTGGGAC	0.443000													33	85					0	0	0.003755	0	0
XIST	7503	broad.mit.edu	37	X	73053208	73053208	+	RNA	SNP	T	T	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:73053208T>A	ENST00000429829.1	-	0	11437					NR_001564.2																						GCTCAGAATGTCCTTAAGAAG	0.418000													16	12					0	0	0.002299	0	0
C3P1	388503	broad.mit.edu	37	19	10158089	10158089	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:10158089C>T	ENST00000495140.1	+	0	1297																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						ATGAGCAGGTCCAGATCCAAG	0.502000													27	48					0	0	0.006320	0	0
TMX1	81542	broad.mit.edu	37	14	51713810	51713810	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:51713810T>C	ENST00000457354.2	+	4	440	c.314_splice	c.e4-1	p.H105_splice		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	105	Thioredoxin.				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						TTCTCTTTAGTTGTAAAGATG	0.313000													14	20					0	0	0.004990	0	0
MATK	4145	broad.mit.edu	37	19	3778521	3778521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:3778521G>A	ENST00000310132.6	-	13	1668	c.1270C>T	c.(1270-1272)Ccg>Tcg	p.P424S	MATK_ENST00000395040.2_Missense_Mutation_p.P383S|MATK_ENST00000395045.2_Missense_Mutation_p.P425S|MATK_ENST00000585778.1_Missense_Mutation_p.P423S	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	424	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TTAGGGTACGGAGCCCGTCCA	0.647000													7	9					0	0	0.001984	0	0
MSI2	124540	broad.mit.edu	37	17	55478817	55478817	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:55478817C>T	ENST00000284073.2	+	6	599	c.390C>T	c.(388-390)ttC>ttT	p.F130F	MSI2_ENST00000322684.3_Silent_p.F126F|MSI2_ENST00000442934.2_Silent_p.F69F|MSI2_ENST00000416426.2_Silent_p.F108F|MSI2_ENST00000579180.1_Silent_p.F26F	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	130	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		AGCAATATTTCGAGCAGTTTG	0.488000			T	HOXA9	CML								30	45					0	0	0.002836	0	0
NOX3	50508	broad.mit.edu	37	6	155732367	155732367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:155732367G>A	ENST00000159060.2	-	11	1538	c.1436C>T	c.(1435-1437)aCc>aTc	p.T479I		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	479							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ATCCCAGCCGGTAAGAAATAT	0.398000													8	25					0	0	0.003080	0	0
SPTA1	6708	broad.mit.edu	37	1	158624513	158624513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:158624513C>T	ENST00000368148.3	-	21	3104	c.2924G>A	c.(2923-2925)gGa>gAa	p.G975E	SPTA1_ENST00000368147.3_Missense_Mutation_p.G975E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	975					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCAGCAACTCCCTCCACTGG	0.512000													13	33					0	0	0.002450	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922422	43922422	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:43922422C>T	ENST00000329196.5	+	1	167	c.150C>T	c.(148-150)ccC>ccT	p.P50P	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	50						integral to membrane	aspartic-type endopeptidase activity										TCACCCTCCCCCGGGACCTGC	0.662000													27	36					0	0	0.006320	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318466	30318466	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:30318466C>T	ENST00000375377.1	-	3	712	c.611G>A	c.(610-612)gGg>gAg	p.G204E		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	204										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CAGTCTCTCCCCATCTCCATC	0.483000													45	102					0	0	0.009718	0	0
GRASP	160622	broad.mit.edu	37	12	52408956	52408956	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:52408956C>T	ENST00000293662.4	+	8	1241	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	GRASP_ENST00000552049.1_Silent_p.S244S|GRASP_ENST00000380039.2_Silent_p.S244S|GRASP_ENST00000552963.1_3'UTR	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	387						cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TCAACCGCTCCCTGGAGGAGG	0.642000													4	27					0	0	0.001168	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15115534	15115534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:15115534G>A	ENST00000253699.3	-	14	2723	c.2110C>T	c.(2110-2112)Cct>Tct	p.P704S	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.P704S	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	704	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GGAACCAGAGGGCTTGAGAGC	0.562000													34	65					0	0	0.003755	0	0
ADI1	55256	broad.mit.edu	37	2	3504598	3504598	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:3504598G>A	ENST00000382093.5	-	3	3226	c.389C>T	c.(388-390)aCg>aTg	p.T130M	ADI1_ENST00000327435.6_Missense_Mutation_p.T136M			Q9BV57	MTND_HUMAN	acireductone dioxygenase 1	136					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CTCGTCCACCGTGAAGCGGTG	0.637000													9	21					0	0	0.004482	0	0
ATR	545	broad.mit.edu	37	3	142188402	142188402	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:142188402G>A	ENST00000350721.4	-	38	6450	c.6329C>T	c.(6328-6330)tCc>tTc	p.S2110F	ATR_ENST00000383101.3_Missense_Mutation_p.S2046F|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2110	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|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						TACACGATCGGAGCGGCCAGC	0.323000								Other conserved DNA damage response genes					8	27					0	0	0.003080	0	0
PBRM1	55193	broad.mit.edu	37	3	52649472	52649472	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:52649472C>T	ENST00000356770.4	-	14	1725	c.1722_splice	c.e14-1	p.V575_splice	PBRM1_ENST00000409114.3_Splice_Site_p.V622_splice|PBRM1_ENST00000296302.7_Splice_Site_p.V607_splice|PBRM1_ENST00000409057.1_Splice_Site_p.V607_splice|PBRM1_ENST00000410007.1_Splice_Site_p.V607_splice|PBRM1_ENST00000409767.1_Splice_Site_p.V622_splice|PBRM1_ENST00000394830.3_Splice_Site_p.V607_splice|PBRM1_ENST00000337303.4_Splice_Site_p.V607_splice			Q86U86	PB1_HUMAN	polybromo 1	607	Bromo 4.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA 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)		TCATTATAAACCTACATTCCA	0.333000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								7	27					0	0	0.001984	0	0
TP63	8626	broad.mit.edu	37	3	189526315	189526315	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:189526315G>A	ENST00000264731.3	+	4	668	c.579_splice	c.e4+1	p.T193_splice	TP63_ENST00000382063.4_Intron|TP63_ENST00000418709.2_Splice_Site_p.T193_splice|TP63_ENST00000392463.2_Splice_Site_p.T99_splice|TP63_ENST00000320472.5_Splice_Site_p.T193_splice|TP63_ENST00000449992.1_Intron|TP63_ENST00000392460.3_Splice_Site_p.T193_splice|TP63_ENST00000456148.1_Splice_Site_p.T99_splice|TP63_ENST00000437221.1_Splice_Site_p.T99_splice|TP63_ENST00000440651.2_Splice_Site_p.T193_splice|TP63_ENST00000392461.3_Splice_Site_p.T99_splice|TP63_ENST00000354600.5_Splice_Site_p.T99_splice	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	193			T -> TP (in SHFM4).		anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCACCTGGACGGTAAGAGCAG	0.617000										HNSCC(45;0.13)			12	23					0	0	0.003163	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51770669	51770669	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:51770669G>A	ENST00000316401.7	+	5	834	c.453G>A	c.(451-453)gcG>gcA	p.A151A	CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_3'UTR|SIGLECL1_ENST00000597824.1_Silent_p.A57A	NM_173635.1	NP_775906.1			SIGLEC family like 1																		AAGCTGCAGCGATCAGAGCAA	0.468000													29	52					0	0	0.006320	0	0
IGHG1	3500	broad.mit.edu	37	14	106208017	106208017	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:106208017C>T	ENST00000390548.2	-	0	785																											TCTCCCACTCCACGGCGATGT	0.612000													49	121					0	0	0.003610	0	0
SYNE1	23345	broad.mit.edu	37	6	152861132	152861132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:152861132C>T	ENST00000367255.5	-	4	693	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	SYNE1_ENST00000367253.4_Missense_Mutation_p.R31Q|SYNE1_ENST00000413186.2_Missense_Mutation_p.R31Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R31Q|SYNE1_ENST00000466159.2_Missense_Mutation_p.R31Q|SYNE1_ENST00000367248.3_Missense_Mutation_p.R31Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R31Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R31Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.R31Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	31	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGTGAAAGTTCGTTTTTGTAC	0.338000										HNSCC(10;0.0054)			28	74					0	0	0.008361	0	0
SAMD9	54809	broad.mit.edu	37	7	92730772	92730772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:92730772C>T	ENST00000379958.2	-	3	4908	c.4639G>A	c.(4639-4641)Gaa>Aaa	p.E1547K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1547						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTGATTTTTTCATTGATTCCA	0.388000													15	27					0	0	0.002450	0	0
LONRF3	79836	broad.mit.edu	37	X	118140157	118140157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:118140157C>T	ENST00000365713.2	+	5	1529	c.1366C>T	c.(1366-1368)Cac>Tac	p.H456Y	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.H456Y|LONRF3_ENST00000371628.3_Missense_Mutation_p.H497Y|LONRF3_ENST00000422289.2_Missense_Mutation_p.H241Y			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	497					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						ATGCCTAGATCACAACGCAAA	0.348000													45	27					0	0	0.003610	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951845	119951845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:119951845C>T	ENST00000307142.4	+	4	2111	c.1915C>T	c.(1915-1917)Ccg>Tcg	p.P639S	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P639S|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P639S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	639	Pro-rich.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGTTTCAAGTCCGATTGCTGG	0.592000													15	38					0	0	0.003163	0	0
NUP214	8021	broad.mit.edu	37	9	134011373	134011373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:134011373C>T	ENST00000359428.5	+	9	1129	c.985C>T	c.(985-987)Ctt>Ttt	p.L329F	RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.L329F|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.L329F			P35658	NU214_HUMAN	nucleoporin 214kDa	329					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGTTAGTATCCTTGCTCGACA	0.388000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								17	27					0	0	0.008871	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763835	110763835	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:110763835C>T	ENST00000368919.3	-	4	861	c.795G>A	c.(793-795)agG>agA	p.R265R	SLC22A16_ENST00000439654.1_Silent_p.R265R|SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000330550.4_Silent_p.R231R	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	265					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GCCACCAGGTCCTGACCAAGT	0.507000													20	57					0	0	0.002299	0	0
COL4A5	1287	broad.mit.edu	37	X	107814658	107814658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:107814658C>T	ENST00000328300.6	+	7	644	c.400C>T	c.(400-402)Cca>Tca	p.P134S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P134S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	134	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			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						ACGTGGATTTCCAGGCAGTCC	0.368000									Alport syndrome with Diffuse Leiomyomatosis				44	45					0	0	0.003610	0	0
PNN	5411	broad.mit.edu	37	14	39644500	39644500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:39644500G>A	ENST00000216832.4	+	1	84	c.17G>A	c.(16-18)aGa>aAa	p.R6K	PNN_ENST00000556530.1_Missense_Mutation_p.R6K|RP11-407N17.4_ENST00000556537.1_lincRNA|PNN_ENST00000553331.1_Missense_Mutation_p.R6K	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	6	Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GTCGCCGTGAGAACTTTGCAG	0.592000													4	9					0	0	0.000602	0	0
HLA-G	3135	broad.mit.edu	37	6	29796437	29796437	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:29796437T>C	ENST00000428701.1	+	4	639	c.461T>C	c.(460-462)cTg>cCg	p.L154P	HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Missense_Mutation_p.L154P|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376828.2_Missense_Mutation_p.L159P	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	154	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						AACGAGGACCTGCGCTCCTGG	0.622000													19	78					0	0	0.007413	0	0
DSC2	1824	broad.mit.edu	37	18	28659870	28659870	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:28659870C>A	ENST00000280904.6	-	11	2049	c.1606G>T	c.(1606-1608)Gag>Tag	p.E536*	DSC2_ENST00000251081.6_Nonsense_Mutation_p.E536*	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	536	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GTCTCTGCCTCTCTATCCAGG	0.388000													24	45					2.89027e-11	2.97443e-11	0.002299	1	0
DNMT3B	1789	broad.mit.edu	37	20	31374317	31374317	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:31374317C>T	ENST00000328111.2	+	5	637	c.316C>T	c.(316-318)Cga>Tga	p.R106*	DNMT3B_ENST00000348286.2_Nonsense_Mutation_p.R106*|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000344505.4_Nonsense_Mutation_p.R106*|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000201963.3_Nonsense_Mutation_p.R118*|DNMT3B_ENST00000353855.2_Nonsense_Mutation_p.R106*|DNMT3B_ENST00000456297.2_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	106	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTCCGAACTCGAAATAACAA	0.627000													11	46					0	0	0.000978	0	0
ITGB8	3696	broad.mit.edu	37	7	20431099	20431099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:20431099G>A	ENST00000222573.3	+	7	1718	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	ITGB8_ENST00000537992.1_Missense_Mutation_p.G210E	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	345	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GCAGTTCAAGGAAAACAATTT	0.284000													8	20					0	0	0.004482	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361348	70361348	+	Missense_Mutation	SNP	G	G	A	rs41299976		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:70361348G>A	ENST00000305107.6	-	1	278	c.232C>T	c.(232-234)Cct>Tct	p.P78S	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.P78S	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	78			P -> T.		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						AAAGATACAGGATAAACTTCA	0.383000													15	30					0	0	0.002450	0	0
BZW1	9689	broad.mit.edu	37	2	201681923	201681923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:201681923C>T	ENST00000409600.1	+	6	952	c.497C>T	c.(496-498)tCc>tTc	p.S166F	BZW1_ENST00000452790.2_Missense_Mutation_p.S198F|BZW1_ENST00000409226.1_Missense_Mutation_p.S170F	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						CTTAATGCATCCATTCTTAAT	0.413000													14	43					0	0	0.002450	0	0
NBPF20	100288142	broad.mit.edu	37	1	148252068	148252068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:148252068G>A	ENST00000369202.1	-	111	13870	c.13673C>T	c.(13672-13674)tCa>tTa	p.S4558L						neuroblastoma breakpoint family, member 20											breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						TCCATCCAGTGAGTCCTGTAA	0.448000													48	151					0	0	0.003610	0	0
FDXR	2232	broad.mit.edu	37	17	72860067	72860067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:72860067G>A	ENST00000455107.2	-	10	1489	c.1073C>T	c.(1072-1074)cCa>cTa	p.P358L	FDXR_ENST00000582944.1_Silent_p.S367S|FDXR_ENST00000442102.2_Silent_p.S418S|FDXR_ENST00000420580.2_Silent_p.S335S|FDXR_ENST00000581530.1_Silent_p.S381S|FDXR_ENST00000583917.1_Silent_p.S347S|FDXR_ENST00000413947.2_Silent_p.S406S|FDXR_ENST00000293195.5_Silent_p.S375S|FDXR_ENST00000544854.1_Silent_p.S323S			P22570	ADRO_HUMAN	ferredoxin reductase	0					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCCAAGCTTGGAGTCAAAGG	0.597000													25	93					0	0	0.004656	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651847	84651847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:84651847G>A	ENST00000286744.5	+	21	3691	c.3467G>A	c.(3466-3468)gGg>gAg	p.G1156E	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G1156E	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1156						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGGAAACAGGGAGTGTGTCC	0.547000													13	14					0	0	0.001368	0	0
KCNK10	54207	broad.mit.edu	37	14	88693840	88693840	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:88693840A>G	ENST00000340700.5	-	4	996	c.545T>C	c.(544-546)aTc>aCc	p.I182T	KCNK10_ENST00000319231.5_Missense_Mutation_p.I187T|KCNK10_ENST00000312350.5_Missense_Mutation_p.I187T	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	182					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AATACAAAAGATTTTGCCTCC	0.408000													21	48					0	0	0.002780	0	0
PRKDC	5591	broad.mit.edu	37	8	48749810	48749810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:48749810G>A	ENST00000314191.2	-	58	7777	c.7721C>T	c.(7720-7722)cCc>cTc	p.P2574L	PRKDC_ENST00000338368.3_Missense_Mutation_p.P2574L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2575	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTCGAACATGGGGTTTGGATA	0.373000								Non-homologous end-joining					9	11					0	0	0.004482	0	0
DNAJC28	54943	broad.mit.edu	37	21	34860722	34860722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:34860722G>A	ENST00000314399.3	-	2	1417	c.979C>T	c.(979-981)Cat>Tat	p.H327Y	DNAJC28_ENST00000381947.3_Missense_Mutation_p.H327Y|DNAJC28_ENST00000402202.1_Missense_Mutation_p.H327Y	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	327				LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185).			heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						GCATCAAAATGGACTTTTTGC	0.338000													11	39					0	0	0.000978	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665287	6665287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:6665287C>T	ENST00000326176.9	-	5	646	c.265G>A	c.(265-267)Ggc>Agc	p.G89S	TNFSF14_ENST00000245912.3_Missense_Mutation_p.G89S|TNFSF14_ENST00000599359.1_Missense_Mutation_p.G125S	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	125					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TAGCTGAGGCCCCTCAGGAAG	0.642000													8	18					0	0	0.003080	0	0
FSCN3	29999	broad.mit.edu	37	7	127235401	127235401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:127235401C>T	ENST00000265825.5	+	2	404	c.185C>T	c.(184-186)gCc>gTc	p.A62V	FSCN3_ENST00000420086.2_5'UTR|FSCN3_ENST00000478328.1_3'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	62						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GAGACACAGGCCGTGGTGCGA	0.562000													10	33					0	0	0.008291	0	0
GRHL2	79977	broad.mit.edu	37	8	102678844	102678844	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:102678844C>T	ENST00000251808.3	+	16	2129	c.1791C>T	c.(1789-1791)atC>atT	p.I597I	GRHL2_ENST00000395927.1_Silent_p.I581I	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	597						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ATGACAACATCATCGAGCACT	0.547000													12	26					0	0	0.000978	0	0
PRIMPOL	201973	broad.mit.edu	37	4	185603437	185603437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:185603437C>T	ENST00000314970.6	+	9	1476	c.1043C>T	c.(1042-1044)cCa>cTa	p.P348L	CCDC111_ENST00000515774.1_Missense_Mutation_p.P219L|CCDC111_ENST00000512834.1_Missense_Mutation_p.P348L|CCDC111_ENST00000503752.1_Missense_Mutation_p.P348L	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		348					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		ACATGTGAGCCATCTCAGAAT	0.358000													5	18					0	0	0.001984	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101631753	101631753	+	Missense_Mutation	SNP	C	C	T	rs138439271		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:101631753C>T	ENST00000310954.6	-	1	500	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	72					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.E72K(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGCTTCTCTTCGGAGACATTG	0.582000													15	35					0	0	0.004990	0	0
HORMAD2	150280	broad.mit.edu	37	22	30518024	30518024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:30518024G>A	ENST00000336726.6	+	10	995	c.640G>A	c.(640-642)Gag>Aag	p.E214K	HORMAD2_ENST00000403975.1_Missense_Mutation_p.E214K	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	214	HORMA.				meiosis|mitosis	chromosome|nucleus				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			GTTTGACAAGGAGCCTATCAA	0.433000													4	16					0	0	0.009096	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622175	41622175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:41622175G>A	ENST00000331105.2	+	2	154	c.82G>A	c.(82-84)Gga>Aga	p.G28R		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	28					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						AAGAGATAAGGGAAAGCTGCC	0.567000													33	88					0	0	0.005524	0	0
PANK2	80025	broad.mit.edu	37	20	3891387	3891387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:3891387C>T	ENST00000497424.1	+	3	583	c.272C>T	c.(271-273)cCg>cTg	p.P91L	PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Missense_Mutation_p.P382L	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	382					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	p.P382L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTGAAAAATCCGTATCCTCTG	0.403000													13	30					0	0	0.001368	0	0
ADCY1	107	broad.mit.edu	37	7	45726197	45726197	+	Silent	SNP	C	C	T	rs148089389	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:45726197C>T	ENST00000297323.7	+	14	2401	c.2379C>T	c.(2377-2379)ctC>ctT	p.L793L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	793					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CCATCCTGCTCTTCTCCTGTG	0.627000													16	39					0	0	0.006122	0	0
DNAH17	8632	broad.mit.edu	37	17	76540046	76540046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:76540046C>T	ENST00000389840.5	-	17	2549	c.2425G>A	c.(2425-2427)Gac>Aac	p.D809N	DNAH17_ENST00000585328.1_Missense_Mutation_p.D809N					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCTTATTGTCCTTTCTTTCA	0.502000													55	54					0	0	0.003610	0	0
CNGB1	1258	broad.mit.edu	37	16	57931709	57931709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:57931709C>T	ENST00000564448.1	-	30	3128	c.3068G>A	c.(3067-3069)gGa>gAa	p.G1023E	CNGB1_ENST00000251102.8_Missense_Mutation_p.G1029E			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1029					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCTTATTTCTCCAAACACAGA	0.592000													51	287					0	0	0.003610	0	0
PNKP	11284	broad.mit.edu	37	19	50370417	50370417	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:50370417G>A	ENST00000322344.3	-	2	154	c.45C>T	c.(43-45)ccC>ccT	p.P15P	PNKP_ENST00000596014.1_Silent_p.P15P|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600573.1_Silent_p.P15P|PNKP_ENST00000600910.1_Silent_p.P15P	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	15					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CTCCCCCAGGGGGGCTCTCGA	0.711000								Other BER factors					5	20					0	0	0.000602	0	0
SCN10A	6336	broad.mit.edu	37	3	38768199	38768199	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:38768199G>A	ENST00000449082.2	-	16	2984	c.2985C>T	c.(2983-2985)gtC>gtT	p.V995V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	995					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)	TGGGCACAGAGACCCACACAG	0.567000													18	22					0	0	0.008871	0	0
CDC40	51362	broad.mit.edu	37	6	110514406	110514406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:110514406C>T	ENST00000368932.1	+	3	312	c.211C>T	c.(211-213)Cac>Tac	p.H71Y	CDC40_ENST00000368930.1_Missense_Mutation_p.H71Y|CDC40_ENST00000368933.1_Missense_Mutation_p.H71Y|CDC40_ENST00000307731.1_Missense_Mutation_p.H71Y			O60508	PRP17_HUMAN	cell division cycle 40	71					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		GACTGGAGTTCACCTTGACCC	0.348000													10	37					0	0	0.008291	0	0
MYH2	4620	broad.mit.edu	37	17	10447105	10447105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:10447105G>A	ENST00000245503.5	-	8	1048	c.664C>T	c.(664-666)Caa>Taa	p.Q222*	MYH2_ENST00000397183.2_Nonsense_Mutation_p.Q222*|MYH2_ENST00000532183.1_Nonsense_Mutation_p.Q222*|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	222	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGATGATTTGATCTTCCAGA	0.522000													12	30					0	0	0.001368	0	0
LRRC7	57554	broad.mit.edu	37	1	70505099	70505099	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:70505099G>C	ENST00000310961.5	+	22	3911	c.3493G>C	c.(3493-3495)Gtg>Ctg	p.V1165L	LRRC7_ENST00000035383.5_Missense_Mutation_p.V1160L|LRRC7_ENST00000415775.2_Missense_Mutation_p.V444L			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1160						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAGCGTTACAGTGACTGAGTC	0.498000													18	50					0	0	0.007413	0	0
ZFAT	57623	broad.mit.edu	37	8	135649738	135649738	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:135649738G>A	ENST00000520727.1	-	4	677	c.378C>T	c.(376-378)atC>atT	p.I126I	ZFAT_ENST00000523399.1_Silent_p.I138I|ZFAT_ENST00000377838.3_Silent_p.I138I|ZFAT_ENST00000520356.1_Silent_p.I126I|ZFAT_ENST00000429442.2_Silent_p.I126I|ZFAT_ENST00000520214.1_Silent_p.I126I	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AATTCAGCACGATAATGCAGA	0.507000													23	61					0	0	0.003954	0	0
OR2C3	81472	broad.mit.edu	37	1	247695676	247695676	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:247695676G>A	ENST00000366487.3	-	2	499	c.138C>T	c.(136-138)atC>atT	p.I46I	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGACCAGAATGATGATGCCAT	0.488000													12	36					0	0	0.001855	0	0
KIF21B	23046	broad.mit.edu	37	1	200969850	200969850	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:200969850C>T	ENST00000332129.2	-	10	1777	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	KIF21B_ENST00000360529.5_Silent_p.E487E|KIF21B_ENST00000461742.2_Silent_p.E487E|KIF21B_ENST00000422435.2_Silent_p.E487E	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	487					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCACCGTAGCTCCTCGATCT	0.637000													23	31					0	0	0.001882	0	0
FGD1	2245	broad.mit.edu	37	X	54496550	54496550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:54496550C>T	ENST00000375135.3	-	4	1733	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	334					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTGTCAACCTCTTGGGAGCCA	0.647000													12	4					0	0	0.001855	0	0
ACAN	176	broad.mit.edu	37	15	89398533	89398533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:89398533C>T	ENST00000439576.2	+	12	3091	c.2717C>T	c.(2716-2718)tCc>tTc	p.S906F	ACAN_ENST00000561243.1_Missense_Mutation_p.S906F|ACAN_ENST00000352105.7_Missense_Mutation_p.S906F|ACAN_ENST00000559004.1_Missense_Mutation_p.S906F	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	906					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGTCTTACTTCCACAGTGGGC	0.572000													5	25					0	0	0.000602	0	0
ITK	3702	broad.mit.edu	37	5	156670802	156670802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:156670802G>A	ENST00000422843.3	+	12	1382	c.1230G>A	c.(1228-1230)atG>atA	p.M410I	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	410	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGAAGTAATGATGTGAGTGC	0.493000			T	SYK	peripheral T-cell lymphoma								52	146					0	0	0.003610	0	0
OR13G1	441933	broad.mit.edu	37	1	247836268	247836268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:247836268G>A	ENST00000359688.2	-	1	97	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGAAAAAAGAGGAAGATAATT	0.418000													14	23					0	0	0.003163	0	0
JPH1	56704	broad.mit.edu	37	8	75227454	75227454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:75227454C>T	ENST00000342232.4	-	2	821	c.781G>A	c.(781-783)Gat>Aat	p.D261N		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	261					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CAATCTACATCGCCAAAGCTG	0.567000													14	38					0	0	0.001855	0	0
DOPEY1	23033	broad.mit.edu	37	6	83834472	83834472	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:83834472C>T	ENST00000349129.2	+	13	1649	c.1389C>T	c.(1387-1389)gaC>gaT	p.D463D	DOPEY1_ENST00000369739.3_Silent_p.D454D|DOPEY1_ENST00000237163.5_Silent_p.D454D	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	463					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATAGTAATGACTCATCTGAAT	0.368000													23	82					0	0	0.004656	0	0
ANGPT4	51378	broad.mit.edu	37	20	865741	865741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:865741C>T	ENST00000381922.3	-	4	917	c.815G>A	c.(814-816)aGg>aAg	p.R272K	ANGPT4_ENST00000546022.1_Missense_Mutation_p.R272K	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	272					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GGCGTTAGCCCTTTCTTGCAC	0.682000													3	13					0	0	0.004672	0	0
VWA8	23078	broad.mit.edu	37	13	42189183	42189183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:42189183G>A	ENST00000379310.3	-	38	4717	c.4649C>T	c.(4648-4650)tCc>tTc	p.S1550F		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GTGTTTGGGGGAGCTTACATC	0.493000													7	31					0	0	0.001984	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655883	138655883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:138655883G>A	ENST00000251691.4	+	33	6066	c.5900G>A	c.(5899-5901)aGc>aAc	p.S1967N		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1967					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GATGACAGAAGCCAGTCCCGG	0.642000													4	11					0	0	0.009096	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130370521	130370521	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:130370521T>A	ENST00000529410.1	+	6	676	c.197T>A	c.(196-198)gTa>gAa	p.V66E	L3MBTL3_ENST00000368139.2_Missense_Mutation_p.V66E|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.V66E|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.V66E|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.V66E|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.V66E			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	66					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)		ACTTGGATGGTACCAACTGCT	0.363000													5	17					0	0	0.001168	0	0
ATP2C2	9914	broad.mit.edu	37	16	84482186	84482186	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:84482186C>T	ENST00000416219.2	+	17	1640	c.1551C>T	c.(1549-1551)atC>atT	p.I517I	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.I517I			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	517					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AAGAGGTGATCCGCTACTGCA	0.527000													25	25					0	0	0.003954	0	0
OR2G3	81469	broad.mit.edu	37	1	247768910	247768910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:247768910C>T	ENST00000320002.2	+	1	55	c.23C>T	c.(22-24)tCc>tTc	p.S8F	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S8F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AATGAGAGTTCCCTAATGGAT	0.468000													13	41					0	0	0.001368	0	0
PPP4R4	57718	broad.mit.edu	37	14	94725701	94725701	+	Missense_Mutation	SNP	G	G	A	rs2180398		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:94725701G>A	ENST00000304338.3	+	19	2276	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	708						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ACTTCTTTTGGAAATGGTATG	0.269000													6	8					0	0	0.001984	0	0
TRIM71	131405	broad.mit.edu	37	3	32931959	32931959	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:32931959C>T	ENST00000383763.4	+	4	1326	c.1263C>T	c.(1261-1263)gtC>gtT	p.V421V		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	421					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCAGCAGGTCCTGGAGGAGG	0.617000													9	36					0	0	0.006214	0	0
FSTL4	23105	broad.mit.edu	37	5	132535325	132535325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:132535325C>T	ENST00000265342.7	-	16	2240	c.1991G>A	c.(1990-1992)aGc>aAc	p.S664N	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	664						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGAGGCGGGGCTGTCCTGTCG	0.637000													12	29					0	0	0.000978	0	0
DPP10	57628	broad.mit.edu	37	2	116447288	116447288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:116447288C>T	ENST00000410059.1	+	6	947	c.467C>T	c.(466-468)tCa>tTa	p.S156L	DPP10_ENST00000409163.1_Missense_Mutation_p.S106L|DPP10_ENST00000310323.8_Missense_Mutation_p.S149L|DPP10_ENST00000393147.2_Missense_Mutation_p.S160L|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	156					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						TATACTGCTTCATATGTGATT	0.259000													9	3					0	0	0.006214	0	0
CASR	846	broad.mit.edu	37	3	121976156	121976156	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:121976156G>A	ENST00000498619.1	+	3	852	c.414G>A	c.(412-414)acG>acA	p.T138T	CASR_ENST00000490131.1_Silent_p.T138T|CASR_ENST00000296154.5_Silent_p.T138T	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	138			T -> M (in FHH).		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTCCCTCTACGATTGCTGTGG	0.517000													19	40					0	0	0.010504	0	0
KCNJ5	3762	broad.mit.edu	37	11	128786396	128786396	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:128786396T>C	ENST00000529694.1	+	3	1406	c.1030T>C	c.(1030-1032)Tat>Cat	p.Y344H	KCNJ5_ENST00000338350.4_Missense_Mutation_p.Y344H|KCNJ5_ENST00000533599.1_Missense_Mutation_p.Y344H	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	344					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	AAAGGGCTTCTATGAGGTGGA	0.562000													42	80					0	0	0.003610	0	0
NADSYN1	55191	broad.mit.edu	37	11	71185492	71185492	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:71185492C>T	ENST00000319023.2	+	9	906	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	240	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CGGGGACCGCCTGTACTACGA	0.562000													17	52					0	0	0.010504	0	0
ZFP42	132625	broad.mit.edu	37	4	188924167	188924167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:188924167C>T	ENST00000326866.4	+	4	614	c.206C>T	c.(205-207)tCa>tTa	p.S69L	ZFP42_ENST00000509524.1_Missense_Mutation_p.S69L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	69					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GATGATTTCTCAGACTGTTAC	0.498000													10	32					0	0	0.000978	0	0
CTSV	1515	broad.mit.edu	37	9	99798846	99798846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:99798846C>T	ENST00000259470.5	-	5	829	c.580G>A	c.(580-582)Gga>Aga	p.G194R	CTSV_ENST00000538255.1_Missense_Mutation_p.G194R	NM_001333.3	NP_001324.2			cathepsin V																		TCCAGGCCTCCGTTCTCCTTG	0.507000													14	18					0	0	0.003163	0	0
TRIM39	56658	broad.mit.edu	37	6	30298623	30298623	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:30298623C>T	ENST00000376659.5	+	4	1117	c.519C>T	c.(517-519)tcC>tcT	p.S173S	TRIM39-RPP21_ENST00000513556.1_Silent_p.S85S|TRIM39_ENST00000396551.3_Silent_p.S173S|TRIM39_ENST00000540416.1_Silent_p.S173S|TRIM39_ENST00000396548.1_Silent_p.S173S|TRIM39_ENST00000396547.1_Silent_p.S173S|TRIM39_ENST00000376656.4_Silent_p.S173S	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						GCTGCAAGTCCTCTGAGGAGA	0.517000													7	36					0	0	0.003080	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029693	13029693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:13029693G>A	ENST00000399002.2	+	2	492	c.218G>A	c.(217-219)gGa>gAa	p.G73E	SPTLC3_ENST00000378194.4_Missense_Mutation_p.G73E|SPTLC3_ENST00000476791.1_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	73					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TATGGAATTGGAACCCTGTTT	0.398000													28	44					0	0	0.006320	0	0
FBXO38	81545	broad.mit.edu	37	5	147821539	147821539	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:147821539C>G	ENST00000340253.5	+	22	3564	c.3396C>G	c.(3394-3396)atC>atG	p.I1132M	FBXO38_ENST00000296701.6_Missense_Mutation_p.I887M|FBXO38_ENST00000513826.1_Missense_Mutation_p.I887M|FBXO38_ENST00000394370.3_Missense_Mutation_p.I1057M			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1132						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGCACTATCTATGCTCCTA	0.383000													4	15					0	0	0.000602	0	0
ZNF471	57573	broad.mit.edu	37	19	57037299	57037299	+	Silent	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:57037299T>C	ENST00000308031.5	+	5	1996	c.1863T>C	c.(1861-1863)caT>caC	p.H621H	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AAAGAAGTCATACTGGAGAAG	0.413000													7	13					0	0	0.003080	0	0
TMEFF2	23671	broad.mit.edu	37	2	192863794	192863794	+	Missense_Mutation	SNP	C	C	T	rs149067350		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:192863794C>T	ENST00000392314.1	-	6	1068	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000428980.2_RNA|TMEFF2_ENST00000272771.5_Missense_Mutation_p.R226Q|AC098617.1_ENST00000424116.2_RNA			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	226	Kazal-like 2.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ACCTTGACATCGACCCAAAGA	0.368000													16	51					0	0	0.004990	0	0
MLLT6	4302	broad.mit.edu	37	17	36878937	36878937	+	Silent	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:36878937A>G	ENST00000325718.7	+	18	2890	c.2799A>G	c.(2797-2799)acA>acG	p.T933T		NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	933					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					TCAGCCTTACAGAGCAGCAGA	0.637000			T	MLL	AL								4	20					0	0	0.009096	0	0
MICAL3	57553	broad.mit.edu	37	22	18300481	18300481	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:18300481G>T	ENST00000441493.2	-	26	5298	c.4946C>A	c.(4945-4947)tCc>tAc	p.S1649Y		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1649						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GCGTGTGGGGGAGTCAGGCCG	0.711000													9	17					1.33987e-11	1.38071e-11	0.008291	1	0
OSMR	9180	broad.mit.edu	37	5	38924671	38924671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:38924671C>T	ENST00000274276.3	+	14	2420	c.2018C>T	c.(2017-2019)cCa>cTa	p.P673L		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	673	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CAGTGCCACCCACGATTTGAA	0.358000													11	53					0	0	0.008291	0	0
SEMA4F	10505	broad.mit.edu	37	2	74889939	74889939	+	Silent	SNP	A	A	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:74889939A>C	ENST00000357877.2	+	5	686	c.537A>C	c.(535-537)gcA>gcC	p.A179A	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	179	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AGCGGTCAGCAGCTGTAATGG	0.507000													16	67					0	0	0.004007	0	0
ANGPT1	284	broad.mit.edu	37	8	108264107	108264107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:108264107C>T	ENST00000520734.1	-	8	1158	c.873G>A	c.(871-873)atG>atA	p.M291I	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.M290I			Q15389	ANGP1_HUMAN	angiopoietin 1	491	Fibrinogen C-terminal.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GTCGAATCATCATAGTTGTGG	0.413000													17	37					0	0	0.004990	0	0
SMC5	23137	broad.mit.edu	37	9	72965375	72965375	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:72965375C>T	ENST00000361138.5	+	24	3211	c.3153C>T	c.(3151-3153)ttC>ttT	p.F1051F	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	1051					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AATACTTTTTCATAACACCAA	0.348000													14	29					0	0	0.002450	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559235	1559235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:1559235G>A	ENST00000381605.4	-	2	246	c.182C>T	c.(181-183)cCt>cTt	p.P61L	RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.P61L|SIRPB1_ENST00000262929.5_Missense_Mutation_p.P60L|SIRPB1_ENST00000381603.3_Missense_Mutation_p.P61L	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	61	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGGCCCCACAGGGATCAGGGA	0.537000													23	56					0	0	0.002780	0	0
EYA4	2070	broad.mit.edu	37	6	133789851	133789851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:133789851G>A	ENST00000367895.5	+	11	1416	c.952G>A	c.(952-954)Gga>Aga	p.G318R	EYA4_ENST00000531901.1_Missense_Mutation_p.G318R|EYA4_ENST00000525849.1_Missense_Mutation_p.G295R|EYA4_ENST00000430974.2_Missense_Mutation_p.G264R|EYA4_ENST00000355167.3_Missense_Mutation_p.G318R|EYA4_ENST00000431403.2_Missense_Mutation_p.G318R|EYA4_ENST00000355286.6_Missense_Mutation_p.G295R|EYA4_ENST00000452339.2_Missense_Mutation_p.G264R	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	318					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ATCTCTCCCAGGACTGACTAA	0.408000													28	78					0	0	0.007291	0	0
PCSK5	5125	broad.mit.edu	37	9	78784740	78784740	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:78784740G>A	ENST00000545128.1	+	13	2278	c.1740G>A	c.(1738-1740)agG>agA	p.R580R	PCSK5_ENST00000376767.3_Silent_p.R580R|PCSK5_ENST00000376752.4_Silent_p.R580R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	580	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTCAGCTAAGGAACTTTAAGA	0.423000													19	38					0	0	0.010504	0	0
KRT73	319101	broad.mit.edu	37	12	53005009	53005009	+	Silent	SNP	C	C	T	rs115352534	by1000genomes	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:53005009C>T	ENST00000305748.3	-	6	1123	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	363	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACTCTCAATCTCCGAGCGCA	0.567000													22	41					0	0	0.002780	0	0
ZNF799	90576	broad.mit.edu	37	19	12502345	12502345	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:12502345G>A	ENST00000419318.1	-	4	1520	c.771C>T	c.(769-771)gcC>gcT	p.A257A	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.A289A			Q96GE5	ZN799_HUMAN	zinc finger protein 799	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AAGCACTGAAGGCTTTCCCAC	0.428000													24	54					0	0	0.002299	0	0
PROL1	58503	broad.mit.edu	37	4	71275418	71275418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:71275418C>T	ENST00000399575.2	+	3	547	c.373C>T	c.(373-375)Cct>Tct	p.P125S	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	125	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACCCCCATTTCCTCCTATTCC	0.413000													17	57					0	0	0.007413	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153270446	153270446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:153270446G>A	ENST00000290722.1	-	7	1064	c.1012C>T	c.(1012-1014)Cat>Tat	p.H338Y		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	338					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			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTTGAAATGAGGCCAGGTG	0.582000													31	77					0	0	0.008361	0	0
DISP1	84976	broad.mit.edu	37	1	223177389	223177389	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:223177389G>A	ENST00000284476.6	+	8	2814	c.2650G>A	c.(2650-2652)Gag>Aag	p.E884K		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	884					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTACAAGCAAGAGATTTTTGA	0.488000													116	265					0	0	0.003610	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142198033	142198033	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:142198033C>T	ENST00000471935.1	-	0	36																											AGGATGGGAGCTTTGCCCAAT	0.577000													11	27					0	0	0.008291	0	0
PSG5	5673	broad.mit.edu	37	19	43689174	43689174	+	Missense_Mutation	SNP	C	C	T	rs146386413		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:43689174C>T	ENST00000404580.1	-	2	278	c.190G>A	c.(190-192)Ggc>Agc	p.G64S	PSG5_ENST00000407568.1_Missense_Mutation_p.G64S|PSG5_ENST00000407356.1_Missense_Mutation_p.G64S|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000599812.1_Missense_Mutation_p.G64S|PSG5_ENST00000342951.6_Missense_Mutation_p.G64S|PSG5_ENST00000366175.3_Missense_Mutation_p.G64S			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	64	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CAGATGTAGCCAGCAAGATTC	0.448000													43	132					0	0	0.008740	0	0
PTPRK	5796	broad.mit.edu	37	6	128326357	128326357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:128326357C>T	ENST00000368227.3	-	15	2732	c.2366G>A	c.(2365-2367)gGg>gAg	p.G789E	PTPRK_ENST00000368213.5_Missense_Mutation_p.G789E|PTPRK_ENST00000368215.3_Missense_Mutation_p.G788E|PTPRK_ENST00000532331.1_Missense_Mutation_p.G789E|PTPRK_ENST00000368210.3_Missense_Mutation_p.G789E|PTPRK_ENST00000368226.4_Missense_Mutation_p.G789E|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Missense_Mutation_p.G799E			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	788					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCGGGTATTCCCCATGGCATC	0.463000													14	28					0	0	0.004007	0	0
OBSCN	84033	broad.mit.edu	37	1	228538555	228538555	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:228538555C>T	ENST00000570156.2	+	88	21275	c.21201C>T	c.(21199-21201)ttC>ttT	p.F7067F	OBSCN_ENST00000366707.4_Silent_p.F3744F|OBSCN_ENST00000284548.11_Silent_p.F6110F|OBSCN_ENST00000422127.1_Silent_p.F6110F|OBSCN_ENST00000366709.4_Silent_p.F3229F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6110	Pro-rich.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.F6692F(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCACGGTTCGTGAACAAGG	0.582000													6	37					0	0	0.001168	0	0
ZFHX4	79776	broad.mit.edu	37	8	77620131	77620131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:77620131G>A	ENST00000521891.2	+	3	3389	c.2941G>A	c.(2941-2943)Ggc>Agc	p.G981S	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G955S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G955S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G955S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	955						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TAAAGAAGGGGGCAAAAGCAA	0.428000										HNSCC(33;0.089)			11	49					0	0	0.001368	0	0
C17orf77	146723	broad.mit.edu	37	17	72588888	72588888	+	Missense_Mutation	SNP	C	C	T	rs139358664	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:72588888C>T	ENST00000392620.1	+	3	1065	c.703C>T	c.(703-705)Ccc>Tcc	p.P235S	C17orf77_ENST00000328023.2_Missense_Mutation_p.P235S	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	235						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						ACTGCCCCTTCCCCCAGGAAC	0.572000													17	64					0	0	0.007413	0	0
LRRC16B	90668	broad.mit.edu	37	14	24525540	24525540	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:24525540G>A	ENST00000342740.5	+	11	957	c.803G>A	c.(802-804)gGg>gAg	p.G268E	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	268										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGGGTGTTTGGGGAGAACGGG	0.622000													3	11					0	0	0.004672	0	0
ABCA3	21	broad.mit.edu	37	16	2376160	2376160	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:2376160T>A	ENST00000301732.5	-	5	870	c.170A>T	c.(169-171)tAc>tTc	p.Y57F	ABCA3_ENST00000567910.1_Missense_Mutation_p.Y57F|ABCA3_ENST00000382381.3_Missense_Mutation_p.Y57F	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	57					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CTGGCCCGGGTAGATGGTGGC	0.577000													20	31					0	0	0.002299	0	0
MEFV	4210	broad.mit.edu	37	16	3293258	3293258	+	Silent	SNP	G	G	A	rs104895152		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:3293258G>A	ENST00000219596.1	-	10	2268	c.2229C>T	c.(2227-2229)ttC>ttT	p.F743F	MEFV_ENST00000536379.1_Silent_p.F532F|MEFV_ENST00000339854.4_Silent_p.F563F|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	743	B30.2/SPRY.		F -> L (in arFMF).		inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	AGCAGCTGGCGAATGTATAGA	0.517000													20	61					0	0	0.010504	0	0
BRINP3	339479	broad.mit.edu	37	1	190250829	190250829	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:190250829G>A	ENST00000367462.3	-	3	519	c.288C>T	c.(286-288)ttC>ttT	p.F96F	FAM5C_ENST00000484105.1_Intron|FAM5C_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		96						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GAGAGCCAAGGAAATTTCTTC	0.403000													8	24					0	0	0.006214	0	0
KCNH7	90134	broad.mit.edu	37	2	163302691	163302691	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:163302691A>T	ENST00000332142.5	-	7	1490	c.1391T>A	c.(1390-1392)aTa>aAa	p.I464K	KCNH7_ENST00000328032.4_Missense_Mutation_p.I457K	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	464					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)	TAAAATATCTATGATAAACAT	0.358000													6	17					0	0	0.001168	0	0
MRPS23	51649	broad.mit.edu	37	17	55917233	55917233	+	Silent	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:55917233A>G	ENST00000313608.8	-	5	529	c.484T>C	c.(484-486)Ttg>Ctg	p.L162L		NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	162					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					TTTTCTTCCAACGCAGTCTGT	0.478000													29	41					0	0	0.009535	0	0
CCDC74A	90557	broad.mit.edu	37	2	132289353	132289353	+	Missense_Mutation	SNP	C	C	T	rs145934024		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:132289353C>T	ENST00000467992.2	+	2	1281	c.967C>T	c.(967-969)Cct>Tct	p.P323S	CCDC74A_ENST00000295171.6_Missense_Mutation_p.P221S|CCDC74A_ENST00000409856.3_Missense_Mutation_p.P155S			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	221								p.P221S(1)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GGACAAAGTTCCTGGGGTACA	0.577000													25	56					0	0	0.005443	0	0
POTEE	445582	broad.mit.edu	37	2	131976336	131976336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:131976336G>A	ENST00000356920.5	+	1	455	c.361G>A	c.(361-363)Gga>Aga	p.G121R	POTEE_ENST00000358087.5_Missense_Mutation_p.G121R|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	121							ATP binding										GGGCGCTTGGGGAGACTACGA	0.602000													21	58					0	0	0.001882	0	0
NUDC	10726	broad.mit.edu	37	1	27269436	27269436	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:27269436C>T	ENST00000321265.5	+	6	744	c.621C>T	c.(619-621)ctC>ctT	p.L207L		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	207	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GGCGGCACCTCCGGGTGGGGC	0.602000													26	40					0	0	0.004656	0	0
HTR2C	3358	broad.mit.edu	37	X	114141390	114141390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:114141390C>T	ENST00000371950.3	+	6	1418	c.694C>T	c.(694-696)Cct>Tct	p.P232S	HTR2C_ENST00000276198.1_Silent_p.F263F|HTR2C_ENST00000371951.1_Silent_p.F263F	NM_001256761.1	NP_001243690.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	0					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	GTCTGGATTTCCTGAAGTGCT	0.522000													40	22					0	0	0.006230	0	0
TRPM6	140803	broad.mit.edu	37	9	77339653	77339653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:77339653C>T	ENST00000451710.3	-	38	6194	c.5957G>A	c.(5956-5958)aGa>aAa	p.R1986K	TRPM6_ENST00000449912.2_Missense_Mutation_p.R1977K|TRPM6_ENST00000376871.3_Missense_Mutation_p.R819K|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1982K|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1977K|TRPM6_ENST00000376872.3_Missense_Mutation_p.R937K			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1982					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R1982I(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						ATAGTCATTTCTTTTTAAATC	0.413000													13	31					0	0	0.002450	0	0
CCDC54	84692	broad.mit.edu	37	3	107096458	107096458	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:107096458G>A	ENST00000261058.1	+	1	271	c.24G>A	c.(22-24)agG>agA	p.R8R		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	8										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ACACCAAAAGGGTAAAAGCTG	0.398000													20	43					0	0	0.008871	0	0
COL5A3	50509	broad.mit.edu	37	19	10089653	10089653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:10089653C>T	ENST00000264828.3	-	40	2963	c.2878G>A	c.(2878-2880)Gaa>Aaa	p.E960K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	960	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)			GGTCCCAGTTCCCCCTACAGG	0.622000													3	11					0	0	0.004672	0	0
KDM8	79831	broad.mit.edu	37	16	27221559	27221559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:27221559G>A	ENST00000286096.4	+	2	288	c.115G>A	c.(115-117)Gag>Aag	p.E39K	KDM8_ENST00000380948.2_Missense_Mutation_p.E39K|KDM8_ENST00000441782.2_Missense_Mutation_p.E77K|KDM8_ENST00000568965.1_Missense_Mutation_p.E39K	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	39					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										GGACCTCGGGGAGAAAGTGGA	0.612000													18	23					0	0	0.006122	0	0
ZNF812	729648	broad.mit.edu	37	19	9801757	9801757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9801757G>A	ENST00000457674.2	-	5	940	c.422C>T	c.(421-423)cCa>cTa	p.P141L	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTTTCCACATGGATTAAATTT	0.398000													6	19					0	0	0.004482	0	0
TYRO3	7301	broad.mit.edu	37	15	41854896	41854896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:41854896C>T	ENST00000263798.3	+	4	784	c.560C>T	c.(559-561)cCa>cTa	p.P187L	TYRO3_ENST00000559066.1_Missense_Mutation_p.P142L	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	187	Ig-like C2-type 2.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCTCCCTCTCCATCTGTTTTA	0.572000													5	16					0	0	0.001984	0	0
EXD2	55218	broad.mit.edu	37	14	69704344	69704344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:69704344G>A	ENST00000409014.1	+	10	1627	c.970G>A	c.(970-972)Gac>Aac	p.D324N	EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.D324N|EXD2_ENST00000409949.1_Missense_Mutation_p.D324N|EXD2_ENST00000409675.1_Missense_Mutation_p.D324N|EXD2_ENST00000409242.1_Missense_Mutation_p.D324N|EXD2_ENST00000312994.5_Missense_Mutation_p.D449N|EXD2_ENST00000409018.3_Missense_Mutation_p.D449N	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	324					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CGAGATGAAGGACCACAACTC	0.532000													3	25					0	0	0.004672	0	0
LOC81691	81691	broad.mit.edu	37	16	20857542	20857542	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:20857542G>A	ENST00000261377.6	+	19	2333		c.e19-1		AC004381.6_ENST00000564274.1_Splice_Site|AC004381.6_ENST00000348433.6_Splice_Site|ERI2_ENST00000564349.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TTTGATCCCAGACTCTGAAAC	0.547000													48	111					0	0	0.003610	0	0
SMG1	23049	broad.mit.edu	37	16	18853713	18853713	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:18853713T>C	ENST00000446231.2	-	40	6695	c.6283A>G	c.(6283-6285)Atc>Gtc	p.I2095V	SMG1_ENST00000389467.3_Missense_Mutation_p.I2095V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2095					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CATGGACTGATTTCTTCAAGA	0.428000													18	25					0	0	0.006122	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8215754	8215754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:8215754C>T	ENST00000361926.3	+	2	507	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P133S	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	133	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCCTCTGCTCCCCATGGCTGG	0.677000													17	64					0	0	0.004990	0	0
CASP9	842	broad.mit.edu	37	1	15819453	15819453	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:15819453G>A	ENST00000333868.5	-	9	1330	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	CASP9_ENST00000348549.5_Silent_p.F262F|CASP9_ENST00000546424.1_3'UTR|CASP9_ENST00000375890.4_Silent_p.F329F	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	412					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		ATGTTTTAAAGAAAAGTTTTT	0.483000													34	63					0	0	0.004878	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419601	105419601	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:105419601G>A	ENST00000333244.5	-	7	2306	c.2187C>T	c.(2185-2187)tcC>tcT	p.S729S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	729						nucleus		p.S729S(1)		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)			CCAGGTCAGCGGAAGGGGTCT	0.652000													37	75					0	0	0.004878	0	0
F5	2153	broad.mit.edu	37	1	169524446	169524446	+	Silent	SNP	T	T	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:169524446T>G	ENST00000367796.3	-	7	1293	c.1092A>C	c.(1090-1092)gcA>gcC	p.A364A	F5_ENST00000546081.1_Silent_p.A227A|F5_ENST00000367797.3_Silent_p.A364A			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	364	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTATTACAGGTGCATAGTCCC	0.458000													34	73					0	0	0.003755	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159781847	159781847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:159781847C>T	ENST00000393975.3	-	2	310	c.307G>A	c.(307-309)Gga>Aga	p.G103R		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	58	Collagen-like.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCATTCGTCCCATCATTCCT	0.662000													6	10					0	0	0.001168	0	0
CA1	759	broad.mit.edu	37	8	86240894	86240894	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:86240894G>A	ENST00000523953.1	-	9	1727	c.681C>T	c.(679-681)ttC>ttT	p.F227F	CA1_ENST00000432364.2_Silent_p.F227F|CA1_ENST00000542576.1_Silent_p.F227F|CA1_ENST00000523022.1_Silent_p.F227F|CA1_ENST00000256119.5_Silent_p.F227F|CA1_ENST00000522389.1_Silent_p.F93F|CA1_ENST00000431316.1_Silent_p.F227F			P00915	CAH1_HUMAN	carbonic anhydrase I	227					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	GAAGGCTGCGGAATTGTGCCA	0.388000													24	46					0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179494052	179494052	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179494052C>T	ENST00000589042.1	-	240	44624	c.44400G>A	c.(44398-44400)ggG>ggA	p.G14800G	TTN_ENST00000342992.6_Silent_p.G12232G|TTN_ENST00000359218.5_Silent_p.G5860G|TTN_ENST00000460472.2_Silent_p.G5735G|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.G5927G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.G13159G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13159	Fibronectin type-III 6.						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)			CTAGTTTCTTCCCTTTGAGAT	0.478000													9	16					0	0	0.004482	0	0
CCDC67	159989	broad.mit.edu	37	11	93148173	93148173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:93148173C>T	ENST00000298050.3	+	13	1631	c.1531C>T	c.(1531-1533)Cat>Tat	p.H511Y	CCDC67_ENST00000525646.1_Missense_Mutation_p.H253Y	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	511										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TAGACTTAGTCATGACTGTGA	0.383000													21	46					0	0	0.008871	0	0
COL6A6	131873	broad.mit.edu	37	3	130287413	130287413	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:130287413A>G	ENST00000358511.6	+	5	2397	c.2366A>G	c.(2365-2367)gAt>gGt	p.D789G	COL6A6_ENST00000453409.2_Missense_Mutation_p.D789G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	789	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGCATTGAAGATGATCTTGTT	0.458000													18	37					0	0	0.010504	0	0
GPD1	2819	broad.mit.edu	37	12	50501442	50501442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:50501442G>A	ENST00000301149.3	+	6	937	c.705G>A	c.(703-705)atG>atA	p.M235I	GPD1_ENST00000547190.1_Intron|GPD1_ENST00000548814.1_Missense_Mutation_p.M212I	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	235					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	TCATGGAGATGATAGCCTTCG	0.587000													38	107					0	0	0.004878	0	0
ZBED4	9889	broad.mit.edu	37	22	50279400	50279400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:50279400C>T	ENST00000216268.4	+	2	2567	c.2090C>T	c.(2089-2091)cCt>cTt	p.P697L		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	697						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTCCCCGCCCCTTCCTACTTC	0.458000													31	68					0	0	0.003271	0	0
OR4M1	441670	broad.mit.edu	37	14	20248610	20248610	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:20248610C>T	ENST00000315957.4	+	1	210	c.129C>T	c.(127-129)atC>atT	p.I43I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAGGAAATATCCTTATCATTT	0.418000													45	92					0	0	0.003610	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884867	228884867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:228884867C>T	ENST00000392056.3	-	7	749	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E235K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	235						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTTATATTTTCATAATCTAGT	0.343000													27	55					0	0	0.006320	0	0
KMT2D	8085	broad.mit.edu	37	12	49425089	49425089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:49425089G>A	ENST00000301067.7	-	39	13398	c.13399C>T	c.(13399-13401)Ctc>Ttc	p.L4467F		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TTTGCCCGGAGTAGCTTCTGC	0.627000													18	35					0	0	0.008871	0	0
KPRP	448834	broad.mit.edu	37	1	152732712	152732712	+	Silent	SNP	C	C	T	rs138779194	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:152732712C>T	ENST00000368773.1	+	2	706	c.648C>T	c.(646-648)agC>agT	p.S216S	KPRP_ENST00000606109.1_Silent_p.S216S	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	216						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTACAGCAGCTGTTTCCCTC	0.562000													28	77					0	0	0.002096	0	0
MYLK2	85366	broad.mit.edu	37	20	30407947	30407947	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:30407947C>T	ENST00000375994.2	+	2	344	c.71C>T	c.(70-72)cCc>cTc	p.P24L	MYLK2_ENST00000375985.4_Missense_Mutation_p.P24L			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	24					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCTAAAGGTCCCACAGGTGAA	0.602000													15	31					0	0	0.004007	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003415	75003415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:75003415C>T	ENST00000373359.2	-	1	1664	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	491	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTTCTGTGGTCGCTTTCTGTA	0.478000													14	11					0	0	0.003163	0	0
CCR2	729230	broad.mit.edu	37	3	46399427	46399427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:46399427G>A	ENST00000292301.4	+	2	894	c.409G>A	c.(409-411)Gat>Aat	p.D137N	CCR2_ENST00000445132.2_Missense_Mutation_p.D137N|CCR2_ENST00000400888.2_Missense_Mutation_p.D137N|CCR2_ENST00000465202.1_Intron	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	137					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CCTGACAATCGATAGATACCT	0.458000													115	232					0	0	0.003610	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216441	20216441	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:20216441C>T	ENST00000331723.1	+	1	855	c.855C>T	c.(853-855)ccC>ccT	p.P285P		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTGAACCCCCTCATCTACA	0.413000													17	39					0	0	0.004990	0	0
MICAL1	64780	broad.mit.edu	37	6	109773720	109773720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:109773720G>A	ENST00000368952.4	-	5	1017	c.727C>T	c.(727-729)Cct>Tct	p.P243S	MICAL1_ENST00000483856.1_5'UTR|MICAL1_ENST00000358807.3_Missense_Mutation_p.P224S|MICAL1_ENST00000358577.3_Missense_Mutation_p.P224S			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	224					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	p.P224S(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCACCTTCAGGGACGAATTTA	0.552000													8	31					0	0	0.004482	0	0
CROCC	9696	broad.mit.edu	37	1	17272816	17272816	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:17272816C>T	ENST00000375541.5	+	16	2268	c.2199C>T	c.(2197-2199)tcC>tcT	p.S733S	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	733					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGGAGGCCTCCCTGCAGGACT	0.627000													14	44					0	0	0.002450	0	0
SIVA1	10572	broad.mit.edu	37	14	105221989	105221989	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:105221989C>T	ENST00000329967.6	+	2	243	c.141C>T	c.(139-141)ttC>ttT	p.F47F	SIVA1_ENST00000347067.5_Intron	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	47	Interaction with BCL2L1 isoform Bcl-x(L) and inhibition of BCL2L1 anti-apoptotic activity.				activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		GACTCCTGTTCCTCGGGGCCC	0.597000													20	58					0	0	0.003954	0	0
FMN2	56776	broad.mit.edu	37	1	240286540	240286540	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:240286540G>A	ENST00000319653.9	+	2	1907	c.1677G>A	c.(1675-1677)gaG>gaA	p.E559E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	559					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.E702E(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGAAGCAGAGAAGTTTTGCT	0.522000													17	38					0	0	0.004990	0	0
PRRG3	79057	broad.mit.edu	37	X	150868549	150868549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:150868549G>A	ENST00000370353.3	+	3	479	c.89G>A	c.(88-90)gGc>gAc	p.G30D	PRRG3_ENST00000538575.1_Missense_Mutation_p.G30D|PRRG3_ENST00000370354.1_Missense_Mutation_p.G38D			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	30	Gla.					extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCGCCAGGGCACCATCGAG	0.562000													16	7					0	0	0.004007	0	0
SDSL	113675	broad.mit.edu	37	12	113865885	113865885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:113865885C>T	ENST00000403593.4	+	2	360	c.98C>T	c.(97-99)cCt>cTt	p.P33L	SDSL_ENST00000345635.4_Missense_Mutation_p.P33L			Q96GA7	SDSL_HUMAN	serine dehydratase-like	33					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	GCGGGCATGCCTGTCTTCCTC	0.612000													6	11					0	0	0.001168	0	0
INPPL1	3636	broad.mit.edu	37	11	71942105	71942105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:71942105G>A	ENST00000298229.2	+	12	1573	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	INPPL1_ENST00000538751.1_Missense_Mutation_p.E215K|INPPL1_ENST00000541756.1_Missense_Mutation_p.E215K	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	457					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain 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						GACCCTGGACGAGGTCACAGT	0.587000													42	113					0	0	0.007835	0	0
TTN	7273	broad.mit.edu	37	2	179398780	179398780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179398780C>T	ENST00000589042.1	-	358	102786	c.102562G>A	c.(102562-102564)Gaa>Aaa	p.E34188K	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31620K|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25248K|TTN_ENST00000460472.2_Missense_Mutation_p.E25123K|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25315K|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32547K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32547	Ser-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCCATCTTCGTAGGTGATT	0.398000													18	27					0	0	0.004990	0	0
FOXH1	8928	broad.mit.edu	37	8	145700562	145700562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:145700562G>A	ENST00000377317.4	-	2	835	c.257C>T	c.(256-258)tCc>tTc	p.S86F	FOXH1_ENST00000525197.1_5'UTR	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	86					axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD 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			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TCGGTTGGAGGAAAGGTTGTG	0.652000													13	15					0	0	0.004007	0	0
MKL2	57496	broad.mit.edu	37	16	14306259	14306259	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:14306259G>A	ENST00000571589.1	+	5	441	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	MKL2_ENST00000573051.1_Missense_Mutation_p.R39Q|MKL2_ENST00000574045.1_Missense_Mutation_p.R90Q|MKL2_ENST00000318282.5_Missense_Mutation_p.R90Q|MKL2_ENST00000341243.5_Missense_Mutation_p.R79Q|MKL2_ENST00000572567.1_Missense_Mutation_p.R79Q	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	79					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTTGGAACGAGCCAGAGTA	0.388000													14	24					0	0	0.001855	0	0
DNAH11	8701	broad.mit.edu	37	7	21744143	21744143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:21744143C>T	ENST00000328843.6	+	39	6417	c.6386C>T	c.(6385-6387)cCa>cTa	p.P2129L	DNAH11_ENST00000409508.3_Missense_Mutation_p.P2122L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2129					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GACCTGTTTCCAGCCCTGGAT	0.527000									Kartagener syndrome				12	22					0	0	0.001855	0	0
CHCHD10	400916	broad.mit.edu	37	22	24108364	24108364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:24108364G>A	ENST00000520222.1	-	2	141	c.140C>T	c.(139-141)cCc>cTc	p.P47L	CHCHD10_ENST00000484558.2_Silent_p.S120S|CHCHD10_ENST00000401675.3_Silent_p.S127S			Q8WYQ3	CHC10_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 10	0						mitochondrion				large_intestine(2)|lung(1)	3						CCTCACACAGGGACAGGTCAC	0.662000													4	15					0	0	0.000602	0	0
WDR81	124997	broad.mit.edu	37	17	1631646	1631646	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:1631646C>T	ENST00000409644.1	+	1	3393	c.3393C>T	c.(3391-3393)ccC>ccT	p.P1131P	WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Silent_p.P80P	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	0										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGGGTGCCCCCGTGGACAAGA	0.657000													16	42					0	0	0.006122	0	0
KCNK10	54207	broad.mit.edu	37	14	88693803	88693803	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:88693803G>A	ENST00000340700.5	-	4	1033	c.582C>T	c.(580-582)ctC>ctT	p.L194L	KCNK10_ENST00000319231.5_Silent_p.L199L|KCNK10_ENST00000312350.5_Silent_p.L199L	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	194					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGAAACCAAAGAGTGGAATTC	0.413000													24	55					0	0	0.002780	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790338	133790338	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:133790338G>A	ENST00000321016.8	-	18	3512	c.3282C>T	c.(3280-3282)atC>atT	p.I1094I	IGSF9B_ENST00000533871.2_Silent_p.I1094I			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1094	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCAGAGACAGGATGCCCGGGT	0.716000													17	27					0	0	0.006122	0	0
NXPH1	30010	broad.mit.edu	37	7	8791333	8791333	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:8791333A>T	ENST00000405863.1	+	3	1661	c.750A>T	c.(748-750)aaA>aaT	p.K250N	NXPH1_ENST00000602349.1_Missense_Mutation_p.K133N|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	250	V (Cys-rich).					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)		CAGATTATAAACTGGTACAGA	0.458000													10	15					0	0	0.008291	0	0
BIN2	51411	broad.mit.edu	37	12	51695836	51695836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:51695836C>T	ENST00000267012.4	-	5	437	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	BIN2_ENST00000452142.2_Intron|BIN2_ENST00000544402.1_Missense_Mutation_p.E100K|BIN2_ENST00000604560.1_Missense_Mutation_p.E99K	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	126	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						ACATAGATTTCCATGGTCCTT	0.458000													8	19					0	0	0.008291	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527628	65527628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:65527628G>A	ENST00000310193.3	-	4	1185	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	338					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGGTGGATGGGAAATCCAGAC	0.443000													6	21					0	0	0.003080	0	0
CRNKL1	51340	broad.mit.edu	37	20	20031172	20031172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:20031172G>A	ENST00000377340.2	-	3	660	c.629C>T	c.(628-630)cCt>cTt	p.P210L	CRNKL1_ENST00000377327.4_Missense_Mutation_p.P198L|CRNKL1_ENST00000536226.1_Missense_Mutation_p.P49L	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	210	Poly-Pro.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CTTCTGTTGAGGTGGAGGTGG	0.393000													11	16					0	0	0.008291	0	0
CPS1	1373	broad.mit.edu	37	2	211447396	211447396	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:211447396C>A	ENST00000233072.5	+	6	780	c.584C>A	c.(583-585)cCa>cAa	p.P195Q	CPS1_ENST00000430249.2_Missense_Mutation_p.P201Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	195	Anthranilate phosphoribosyltransferase homolog.				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			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)		TTTGTGGATCCAAATAAACAG	0.338000													10	39					0.00185496	0.00189269	0.001855	1	0
BBOX1	8424	broad.mit.edu	37	11	27077077	27077077	+	Silent	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:27077077T>C	ENST00000263182.3	+	3	468	c.100T>C	c.(100-102)Ttg>Ctg	p.L34L	BBOX1_ENST00000529202.1_Silent_p.L34L|BBOX1_ENST00000528583.1_Silent_p.L34L|BBOX1_ENST00000525090.1_Silent_p.L34L|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000527505.1_3'UTR	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	34					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	AGCTGTATGGTTGAGAGACAA	0.473000													13	21					0	0	0.001855	0	0
PTCH1	5727	broad.mit.edu	37	9	98231303	98231303	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:98231303G>A	ENST00000430669.2	-	14	2367	c.1782C>T	c.(1780-1782)tcC>tcT	p.S594S	PTCH1_ENST00000429896.2_Silent_p.S509S|PTCH1_ENST00000375274.2_Silent_p.S659S|PTCH1_ENST00000331920.6_Silent_p.S660S|PTCH1_ENST00000437951.1_Silent_p.S594S|PTCH1_ENST00000418258.1_Silent_p.S509S|PTCH1_ENST00000421141.1_Silent_p.S509S			Q13635	PTC1_HUMAN	patched 1	660	SSD.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCTGGACAGTGGACTGCATGG	0.617000													24	66					0	0	0.004656	0	0
KL	9365	broad.mit.edu	37	13	33629241	33629241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:33629241G>A	ENST00000380099.3	+	3	1396	c.1388G>A	c.(1387-1389)gGt>gAt	p.G463D	KL_ENST00000426690.2_Missense_Mutation_p.G156D|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	463	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CTCATGGATGGTTTCGAGTGG	0.517000													26	70					0	0	0.003954	0	0
PILRB	29990	broad.mit.edu	37	7	99955874	99955874	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:99955874C>T	ENST00000448382.1	+	6	1432	c.315C>T	c.(313-315)ctC>ctT	p.L105L	PILRB_ENST00000444874.1_5'UTR|PILRB_ENST00000444073.1_5'UTR|PILRB_ENST00000452089.1_5'UTR|PILRB_ENST00000310771.4_5'UTR			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	0	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGCCCCTCTCCTGCCTGGAC	0.701000													23	49					0	0	0.004656	0	0
FUT8	2530	broad.mit.edu	37	14	66028473	66028473	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:66028473C>T	ENST00000360689.5	+	3	1919	c.192C>T	c.(190-192)gcC>gcT	p.A64A	FUT8_ENST00000394586.2_Silent_p.A64A|FUT8_ENST00000394585.1_Silent_p.A64A|FUT8_ENST00000358307.2_Intron|FUT8_ENST00000557164.1_Intron	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	64					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GGCGAATGGCCGAATCTCTCC	0.403000													7	15					0	0	0.003080	0	0
COL15A1	1306	broad.mit.edu	37	9	101829170	101829170	+	Silent	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:101829170T>C	ENST00000375001.3	+	40	4081	c.3658T>C	c.(3658-3660)Ttg>Ctg	p.L1220L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1220	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCAGCTGCATTTGGCTGCTCT	0.483000													15	32					0	0	0.003163	0	0
CHKA	1119	broad.mit.edu	37	11	67832028	67832028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:67832028G>A	ENST00000265689.4	-	10	1222	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	CHKA_ENST00000356135.5_Missense_Mutation_p.S381F	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	399					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	TTTTATAATGGATTTTTCTTC	0.294000													4	10					0	0	0.009096	0	0
GPR116	221395	broad.mit.edu	37	6	46847735	46847735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:46847735C>T	ENST00000283296.7	-	9	1144	c.856G>A	c.(856-858)Ggg>Agg	p.G286R	GPR116_ENST00000362015.4_Missense_Mutation_p.G286R|GPR116_ENST00000456426.2_Intron|GPR116_ENST00000265417.7_Missense_Mutation_p.G286R	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	286	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ACTGTGTCCCCTTCAAAGATG	0.408000													15	41					0	0	0.002450	0	0
TNIP2	79155	broad.mit.edu	37	4	2746568	2746568	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:2746568G>A	ENST00000510267.1	-	4	868	c.441C>T	c.(439-441)ccC>ccT	p.P147P	TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000503235.1_Intron|TNIP2_ENST00000315423.7_Silent_p.P254P	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	254						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCATCAGCTCGGGCTCGTGGG	0.597000													12	39					0	0	0.001368	0	0
OR6T1	219874	broad.mit.edu	37	11	123814015	123814015	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:123814015G>A	ENST00000321252.2	-	1	565	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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;0.0401)		TGTCACGAAAGAAGTGGTCAA	0.562000													27	31					0	0	0.006320	0	0
LRP1B	53353	broad.mit.edu	37	2	141641501	141641501	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:141641501T>A	ENST00000389484.3	-	25	5025	c.4054A>T	c.(4054-4056)Ata>Tta	p.I1352L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1352					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)		TTGCTGTCTATCCAGTATATG	0.493000										TSP Lung(27;0.18)			27	65					0	0	0.007291	0	0
TCP10L2	401285	broad.mit.edu	37	6	167585642	167585642	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:167585642G>A	ENST00000366832.2	+	2	141	c.10G>A	c.(10-12)Ggt>Agt	p.G4S		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	4										endometrium(1)|kidney(2)|lung(3)	6						GATGCTGGAGGGTCAGCTCGA	0.657000													4	9					0	0	0.009096	0	0
ATL1	51062	broad.mit.edu	37	14	51099023	51099023	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:51099023A>G	ENST00000441560.2	+	14	2109	c.1628A>G	c.(1627-1629)gAa>gGa	p.E543G	ATL1_ENST00000357032.3_Missense_Mutation_p.E548G|ATL1_ENST00000354525.4_Missense_Mutation_p.E543G|ATL1_ENST00000358385.6_Missense_Mutation_p.E548G	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	548	Sufficient for membrane association.				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CCAAAGTCGGAATCTACTGAA	0.338000													5	18					0	0	0.001984	0	0
OR3A2	4995	broad.mit.edu	37	17	3181392	3181392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:3181392C>T	ENST00000408891.2	-	1	876	c.838G>A	c.(838-840)Gat>Aat	p.D280N		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	280					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						ACCCCTTTATCCTTGTCTGAA	0.478000													14	32					0	0	0.002450	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504398	151504398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:151504398G>A	ENST00000317605.4	+	1	1322	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	73					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TTCGCCCACCGAATTTGAGGT	0.607000													11	22					0	0	0.000978	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104228	142104228	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:142104228G>A	ENST00000390379.1	-	0	236																											AGCCATCGGGGACTTCTCCTT	0.517000													31	79					0	0	0.009535	0	0
PTH	5741	broad.mit.edu	37	11	13514157	13514157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:13514157G>A	ENST00000282091.1	-	3	257	c.143C>T	c.(142-144)tCg>tTg	p.S48L	PTH_ENST00000529816.1_Missense_Mutation_p.S48L	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	48					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding	p.S48L(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		TCTCTCCATCGAGTTCAGATG	0.498000													24	39					0	0	0.006320	0	0
OR7D2	162998	broad.mit.edu	37	19	9296555	9296555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9296555C>T	ENST00000344248.2	+	1	277	c.98C>T	c.(97-99)tCc>tTc	p.S33F		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	33					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTGTTCCTGTCCATGTACCTG	0.507000													14	21					0	0	0.003163	0	0
PFKL	5211	broad.mit.edu	37	21	45732069	45732069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:45732069C>T	ENST00000403390.1	+	5	460	c.460C>T	c.(460-462)Cag>Tag	p.Q154*	PFKL_ENST00000349048.4_Nonsense_Mutation_p.Q107*|PFKL_ENST00000496824.1_3'UTR			P17858	K6PL_HUMAN	phosphofructokinase, liver	107					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CAACCTGGTCCAGCACGGCAT	0.657000													3	4					0	0	0.009096	0	0
RYR3	6263	broad.mit.edu	37	15	34040321	34040321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:34040321G>A	ENST00000389232.4	+	54	8066	c.7996G>A	c.(7996-7998)Gaa>Aaa	p.E2666K	RYR3_ENST00000415757.3_Missense_Mutation_p.E2666K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2666	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTAGGAGAAGGAAATTTATCG	0.547000													27	20					0	0	0.008361	0	0
DNAH5	1767	broad.mit.edu	37	5	13751222	13751222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:13751222G>A	ENST00000265104.4	-	65	11280	c.11176C>T	c.(11176-11178)Cag>Tag	p.Q3726*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3726	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCAGTAACTGATCTTCTAGA	0.453000									Kartagener syndrome				15	42					0	0	0.003163	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022436	51022436	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:51022436G>A	ENST00000599957.1	-	3	731	c.534C>T	c.(532-534)ttC>ttT	p.F178F	LRRC4B_ENST00000389201.3_Silent_p.F178F			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	178						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCACGCGGTTGAAGGCGTAGG	0.672000													20	43					0	0	0.010504	0	0
NCAN	1463	broad.mit.edu	37	19	19334879	19334879	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:19334879C>T	ENST00000252575.5	+	4	568	c.525C>T	c.(523-525)ttC>ttT	p.F175F		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	175	Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	p.F175L(1)|p.F189L(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CACTGACCTTCGCTGAGGCCC	0.577000													17	34					0	0	0.001882	0	0
LRRC18	474354	broad.mit.edu	37	10	50121466	50121466	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:50121466G>A	ENST00000374160.3	-	1	811	c.735C>T	c.(733-735)tcC>tcT	p.S245S	LRRC18_ENST00000298124.3_Silent_p.S245S|WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	245						cytoplasm		p.S245S(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CCTTGGCCATGGAATTGGGTG	0.537000													41	76					0	0	0.006230	0	0
DNAH10	196385	broad.mit.edu	37	12	124341748	124341748	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:124341748T>C	ENST00000409039.3	+	36	6255	c.6230T>C	c.(6229-6231)gTa>gCa	p.V2077A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2077	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AACGATGCGGTAGAGCAGGTC	0.527000													16	21					0	0	0.008871	0	0
SLC17A5	26503	broad.mit.edu	37	6	74325154	74325154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:74325154G>A	ENST00000355773.5	-	8	1263	c.995C>T	c.(994-996)tCa>tTa	p.S332L	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	332					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATAAGGCAATGAAGATAAAAA	0.368000													8	24					0	0	0.004482	0	0
CCDC141	285025	broad.mit.edu	37	2	179736919	179736919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179736919C>T	ENST00000420890.2	-	13	2137	c.2020G>A	c.(2020-2022)Gcc>Acc	p.A674T	CCDC141_ENST00000295723.5_Missense_Mutation_p.A99T	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	99							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTTTCCGTGGCTTTAAGCTGC	0.458000													8	23					0	0	0.003080	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229160	8229160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:8229160G>A	ENST00000539824.1	+	12	1885	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Missense_Mutation_p.R580Q			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	580							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TCCCAGGCCCGGGTGTACTTT	0.667000													24	67					0	0	0.004656	0	0
POM121L12	285877	broad.mit.edu	37	7	53103667	53103667	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:53103667C>T	ENST00000408890.4	+	1	319	c.303C>T	c.(301-303)gcC>gcT	p.A101A		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	101										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGCGCCCTGCCCTTCCCGGGG	0.726000													8	22					0	0	0.003080	0	0
NEB	4703	broad.mit.edu	37	2	152490301	152490301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:152490301C>T	ENST00000397345.3	-	65	9483	c.9281G>A	c.(9280-9282)gGg>gAg	p.G3094E	NEB_ENST00000172853.10_Intron|NEB_ENST00000409198.1_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.G3094E|NEB_ENST00000427231.2_Missense_Mutation_p.G3094E|NEB_ENST00000604864.1_Missense_Mutation_p.G3094E	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3094					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGCACCACCCCCAGCATGTC	0.532000													76	176					0	0	0.003610	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725293	106725293	+	RNA	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:106725293A>G	ENST00000390609.2	-	0	337																											GAGATGGTGAACCGGCCCTTC	0.552000													37	103					0	0	0.004289	0	0
OR6C3	254786	broad.mit.edu	37	12	55725759	55725759	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:55725759A>G	ENST00000379667.1	+	1	275	c.275A>G	c.(274-276)aAc>aGc	p.N92S		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATTTCCTATAACAACTGTGCA	0.413000													11	40					0	0	0.008291	0	0
C6	729	broad.mit.edu	37	5	41159289	41159289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:41159289G>A	ENST00000263413.3	-	12	2015	c.1751C>T	c.(1750-1752)tCg>tTg	p.S584L	C6_ENST00000337836.5_Missense_Mutation_p.S584L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	584	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.S584L(1)		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)				TCGGGTTCTCGATCTCTTATA	0.498000													21	38					0	0	0.010504	0	0
MOGAT1	116255	broad.mit.edu	37	2	223554078	223554078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:223554078C>T	ENST00000446656.3	+	3	368	c.368C>T	c.(367-369)tCt>tTt	p.S123F		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	123					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GGGAATTTTTCTGTAAATTAT	0.408000													24	22					0	0	0.003954	0	0
MYF5	4617	broad.mit.edu	37	12	81111175	81111175	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:81111175G>A	ENST00000228644.3	+	1	485	c.333G>A	c.(331-333)acG>acA	p.T111T		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	111	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GGTGTACCACGACCAACCCCA	0.592000													14	37					0	0	0.002450	0	0
ECE1	1889	broad.mit.edu	37	1	21551882	21551882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:21551882G>A	ENST00000415912.2	-	17	1978	c.1853C>T	c.(1852-1854)tCc>tTc	p.S618F	ECE1_ENST00000374893.6_Missense_Mutation_p.S634F|ECE1_ENST00000436918.2_Missense_Mutation_p.S634F|ECE1_ENST00000357071.4_Missense_Mutation_p.S622F|ECE1_ENST00000264205.6_Missense_Mutation_p.S631F	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	634					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GGCCTCCACGGATGAGTTCTT	0.627000													8	18					0	0	0.008291	0	0
FKBP15	23307	broad.mit.edu	37	9	115973809	115973809	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:115973809G>A	ENST00000238256.3	-	2	234	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	39					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CTGTGTACTGGAAAAATTCAT	0.453000													5	12					0	0	0.001168	0	0
RIMS2	9699	broad.mit.edu	37	8	105260996	105260996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:105260996C>T	ENST00000507740.1	+	19	3222	c.2986C>T	c.(2986-2988)Cct>Tct	p.P996S	RIMS2_ENST00000406091.3_Missense_Mutation_p.P1182S|RIMS2_ENST00000262231.10_Missense_Mutation_p.P1021S|RIMS2_ENST00000339750.2_Missense_Mutation_p.P118S|RIMS2_ENST00000436393.2_Missense_Mutation_p.P1200S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1244					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGCCTTGGCCCTGCTCAGCT	0.438000										HNSCC(12;0.0054)			15	44					0	0	0.004007	0	0
SMOX	54498	broad.mit.edu	37	20	4163123	4163123	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:4163123T>G	ENST00000305958.4	+	5	1222	c.997T>G	c.(997-999)Tcg>Gcg	p.S333A	SMOX_ENST00000379460.2_Missense_Mutation_p.S333A|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Intron	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	333					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	TGTGACCGTGTCGCTAGGTGT	0.637000													17	34					0	0	0.007413	0	0
CYLC1	1538	broad.mit.edu	37	X	83129493	83129493	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:83129493G>A	ENST00000329312.4	+	4	1814	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	593					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGAAAAAGGGGAAAAAGCAAG	0.423000													12	2					0	0	0.000978	0	0
GDF5	8200	broad.mit.edu	37	20	34025183	34025183	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:34025183G>A	ENST00000374372.1	-	3	1029	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	GDF5_ENST00000374369.3_Silent_p.L176L			P43026	GDF5_HUMAN	growth differentiation factor 5	176					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GTCCTGTACAGCGAGAGCATG	0.612000													32	54					0	0	0.002836	0	0
CEACAM6	4680	broad.mit.edu	37	19	42266031	42266031	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:42266031C>T	ENST00000199764.6	+	4	1076	c.858C>T	c.(856-858)atC>atT	p.I286I	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	286	Ig-like C2-type 2.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AGCTCTTTATCCCCAACATCA	0.488000													14	44					0	0	0.003163	0	0
ZNF609	23060	broad.mit.edu	37	15	64968228	64968228	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:64968228C>T	ENST00000326648.3	+	4	3303	c.3175C>T	c.(3175-3177)Ctg>Ttg	p.L1059L		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1059						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						CCTGACAGACCTGGTGAAATC	0.562000													21	39					0	0	0.002299	0	0
ABCA6	23460	broad.mit.edu	37	17	67106984	67106984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:67106984G>A	ENST00000284425.2	-	17	2404	c.2230C>T	c.(2230-2232)Ctt>Ttt	p.L744F		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	744					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GTATATACAAGCTTTTCTTTG	0.303000													4	19					0	0	0.009096	0	0
TCL6	27004	broad.mit.edu	37	14	96129863	96129863	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:96129863G>A	ENST00000467865.1	+	0	271				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		tctttctgcagcccatgccac	0.547000			T	TRA@	T-ALL								11	17					0	0	0.008291	0	0
CALN1	83698	broad.mit.edu	37	7	71571220	71571220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:71571220C>T	ENST00000395275.2	-	4	692	c.304G>A	c.(304-306)Gag>Aag	p.E102K	CALN1_ENST00000329008.5_Missense_Mutation_p.E60K|CALN1_ENST00000431984.1_Missense_Mutation_p.E60K|CALN1_ENST00000395276.2_Missense_Mutation_p.E60K|CALN1_ENST00000412588.1_Missense_Mutation_p.E102K|CALN1_ENST00000405452.2_Missense_Mutation_p.E60K	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	60	EF-hand 2.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ATGCCCAGCTCCTGCTTGGAG	0.562000													8	27					0	0	0.004482	0	0
MFSD2A	84879	broad.mit.edu	37	1	40422863	40422863	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:40422863C>T	ENST00000372809.5	+	2	341	c.198C>T	c.(196-198)ttC>ttT	p.F66F	MFSD2A_ENST00000420632.2_Intron|MFSD2A_ENST00000372811.5_Silent_p.F66F	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	66					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGGGTTTCTTCCTTCAGATCT	0.527000													40	105					0	0	0.006999	0	0
PRRC2B	84726	broad.mit.edu	37	9	134321957	134321957	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:134321957C>T	ENST00000357304.4	+	6	838	c.783C>T	c.(781-783)gtC>gtT	p.V261V	PRRC2B_ENST00000405995.1_Silent_p.V261V|PRRC2B_ENST00000458550.1_Silent_p.V261V	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	261							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTCAGCCTGTCCGAAAAGGGG	0.537000													10	14					0	0	0.006214	0	0
DACT1	51339	broad.mit.edu	37	14	59112095	59112095	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:59112095C>A	ENST00000395153.3	+	4	790	c.643C>A	c.(643-645)Ccc>Acc	p.P215T	DACT1_ENST00000395151.3_5'UTR|DACT1_ENST00000541264.2_5'UTR|DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000335867.4_Missense_Mutation_p.P252T|DACT1_ENST00000556859.1_5'UTR	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	252					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AGATGTGAATCCCAAGTACCA	0.478000													30	38					9.78485e-24	1.01099e-23	0.002836	1	0
PRSS1	5644	broad.mit.edu	37	7	142460361	142460361	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:142460361G>A	ENST00000486171.1	+	5	593	c.576G>A	c.(574-576)aaG>aaA	p.K192K	PRSS1_ENST00000311737.7_Silent_p.K178K			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	178	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACCCTGGAAAGATTACCAGCA	0.542000													42	116					0	0	0.008740	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895344	45895344	+	Missense_Mutation	SNP	G	G	A	rs141349857		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:45895344G>A	ENST00000418234.2	-	8	1687	c.1609C>T	c.(1609-1611)Cct>Tct	p.P537S	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.P537S	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	537	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TTGTGGGTAGGGGGCAGGGCC	0.682000													25	43					0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9005617	9005617	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9005617G>A	ENST00000397910.4	-	46	39992	c.39789C>T	c.(39787-39789)acC>acT	p.T13263T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13265	SEA 8.				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						TGATGCTGTGGGTCAGCTGGC	0.562000													34	84					0	0	0.003755	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202658	140202658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140202658C>T	ENST00000529859.1	+	1	1298	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S433L|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S433L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCGCCTTCGCTGTGGGCC	0.637000													36	90					0	0	0.005524	0	0
FDXR	2232	broad.mit.edu	37	17	72862359	72862359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:72862359C>T	ENST00000455107.2	-	6	685	c.269G>A	c.(268-270)gGg>gAg	p.G90E	FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000582944.1_Missense_Mutation_p.G126E|FDXR_ENST00000442102.2_Missense_Mutation_p.G177E|FDXR_ENST00000420580.2_Missense_Mutation_p.G94E|FDXR_ENST00000581530.1_Missense_Mutation_p.G134E|FDXR_ENST00000583917.1_Missense_Mutation_p.G135E|FDXR_ENST00000413947.2_Missense_Mutation_p.G165E|FDXR_ENST00000293195.5_Missense_Mutation_p.G134E|FDXR_ENST00000544854.1_Missense_Mutation_p.G82E			P22570	ADRO_HUMAN	ferredoxin reductase	134					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					GTCCTCTGCCCCGTAGCTCTG	0.657000													17	29					0	0	0.004007	0	0
IL13RA1	3597	broad.mit.edu	37	X	117895132	117895132	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:117895132C>T	ENST00000371666.3	+	6	775	c.708C>T	c.(706-708)ctC>ctT	p.L236L	IL13RA1_ENST00000481868.1_3'UTR|IL13RA1_ENST00000371642.1_Silent_p.L236L	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	236						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TTAAAAACCTCTCCTTCCACA	0.373000													34	17					0	0	0.003755	0	0
ATP13A5	344905	broad.mit.edu	37	3	193029616	193029616	+	Silent	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:193029616A>G	ENST00000342358.4	-	20	2551	c.2434T>C	c.(2434-2436)Ttg>Ctg	p.L812L	ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	812					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTTGGAAGCAAGCTGTTGAAA	0.423000													15	17					0	0	0.004990	0	0
TRAV3	28690	broad.mit.edu	37	14	22192421	22192421	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:22192421C>T	ENST00000390425.2	+	0	372																											CCTCCAGTTCCTTCTGAAATA	0.448000													15	40					0	0	0.003163	0	0
WDR96	80217	broad.mit.edu	37	10	105974173	105974173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:105974173G>A	ENST00000357060.3	-	4	543	c.428C>T	c.(427-429)tCg>tTg	p.S143L	WDR96_ENST00000369719.1_Missense_Mutation_p.S73L|WDR96_ENST00000428666.1_Missense_Mutation_p.S143L|WDR96_ENST00000278064.2_Missense_Mutation_p.S73L|WDR96_ENST00000369720.1_Missense_Mutation_p.S73L	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	143										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						AATGATACTCGATTCCCAGTT	0.328000													6	12					0	0	0.001984	0	0
CCDC108	255101	broad.mit.edu	37	2	219870227	219870227	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:219870227G>A	ENST00000341552.5	-	32	5063	c.4980C>T	c.(4978-4980)tcC>tcT	p.S1660S	CCDC108_ENST00000441968.1_Silent_p.S1660S|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Silent_p.S1660S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1660						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTGTTAGGGGATTTTTCCT	0.552000													14	49					0	0	0.001855	0	0
STXBP5L	9515	broad.mit.edu	37	3	120924817	120924817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:120924817C>T	ENST00000273666.6	+	10	1196	c.925C>T	c.(925-927)Ctt>Ttt	p.L309F	STXBP5L_ENST00000497029.1_Missense_Mutation_p.L309F|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L309F|STXBP5L_ENST00000472879.1_Missense_Mutation_p.L309F|STXBP5L_ENST00000492541.1_Missense_Mutation_p.L309F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	309					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TAAACCAATTCTTAAAGTAGA	0.284000													10	22					0	0	0.001855	0	0
RPS3	6188	broad.mit.edu	37	11	75115202	75115202	+	Silent	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:75115202T>C	ENST00000531188.1	+	5	551	c.489T>C	c.(487-489)ccT>ccC	p.P163P	RPS3_ENST00000278572.6_Silent_p.P179P|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000527446.1_Silent_p.P163P|RPS3_ENST00000526608.1_Silent_p.P151P|RPS3_ENST00000524851.1_Silent_p.P163P	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	163					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GCGGAGACCCTGTTAACTACT	0.537000													22	26					0	0	0.002299	0	0
RNF17	56163	broad.mit.edu	37	13	25416274	25416274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:25416274G>A	ENST00000255324.5	+	19	2630	c.2578G>A	c.(2578-2580)Gag>Aag	p.E860K	RNF17_ENST00000381921.1_Missense_Mutation_p.E860K	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	860					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GCTAGTTAAAGAGGGCCTAGC	0.358000													20	28					0	0	0.002299	0	0
BCMO1	53630	broad.mit.edu	37	16	81303970	81303970	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:81303970C>T	ENST00000258168.2	+	7	1511	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	BCMO1_ENST00000425577.2_Silent_p.L281L	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	350					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACTCCAGGCTCACCTCGGTCC	0.562000													18	27					0	0	0.008871	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6311589	6311589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:6311589C>T	ENST00000400104.3	-	3	236	c.36G>A	c.(34-36)atG>atA	p.M12I	L3MBTL4_ENST00000284898.6_Missense_Mutation_p.M12I|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.M12I|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.M12I			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	12					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CTTTGGAATCCATATTAAGCT	0.488000													40	139					0	0	0.007835	0	0
PHOX2B	8929	broad.mit.edu	37	4	41748111	41748111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:41748111G>A	ENST00000226382.2	-	3	1017	c.658C>T	c.(658-660)Ccg>Tcg	p.P220S		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	220					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.G216fs*88(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						gctccagccgggctgggcccg	0.816000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				10	24					0	0	0.006214	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175498	140175498	+	Missense_Mutation	SNP	G	G	A	rs17844246		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140175498G>A	ENST00000526136.1	+	1	949	c.949G>A	c.(949-951)Gag>Aag	p.E317K	PCDHA2_ENST00000520672.2_Missense_Mutation_p.E317K|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E317K|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGTCCTACGAGATTCAGGT	0.388000													8	20					0	0	0.004482	0	0
ALS2	57679	broad.mit.edu	37	2	202593243	202593243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:202593243G>A	ENST00000264276.6	-	15	3205	c.2833C>T	c.(2833-2835)Cat>Tat	p.H945Y	ALS2_ENST00000457679.2_Missense_Mutation_p.H257Y	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	945	PH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ACCTGGGCATGGACCAGGGCA	0.463000													32	58					0	0	0.004289	0	0
S100A9	6280	broad.mit.edu	37	1	153330852	153330852	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:153330852C>T	ENST00000368738.3	+	2	136	c.93C>T	c.(91-93)acC>acT	p.T31T		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	31	EF-hand 1.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	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)			ACCCAGACACCCTGAACCAGG	0.522000													9	17					0	0	0.006214	0	0
ADAM29	11086	broad.mit.edu	37	4	175897249	175897249	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:175897249G>A	ENST00000359240.3	+	5	1243	c.573G>A	c.(571-573)gtG>gtA	p.V191V	ADAM29_ENST00000404450.4_Silent_p.V191V|ADAM29_ENST00000514159.1_Silent_p.V191V|ADAM29_ENST00000445694.1_Silent_p.V191V	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	191					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTTCTTATGTGGGCTGGTGGA	0.358000													15	27					0	0	0.003163	0	0
CA10	56934	broad.mit.edu	37	17	49825153	49825153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:49825153C>T	ENST00000451037.2	-	4	1245	c.305G>A	c.(304-306)gGa>gAa	p.G102E	CA10_ENST00000285273.4_Missense_Mutation_p.G102E|CA10_ENST00000570565.1_Missense_Mutation_p.G27E|CA10_ENST00000340813.6_Missense_Mutation_p.G108E|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.G102E	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	102					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TACGTGTCTTCCAGTGTTGTA	0.542000													14	50					0	0	0.004990	0	0
AP3B2	8120	broad.mit.edu	37	15	83350185	83350185	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:83350185G>T	ENST00000261722.3	-	5	715	c.508C>A	c.(508-510)Cct>Act	p.P170T	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.P170T|AP3B2_ENST00000535348.1_Missense_Mutation_p.P138T	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	170					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TAGAGTTTAGGGATGGCGTGG	0.572000													4	41					0.00024832	0.000253537	0.009096	1	0
MTX1	4580	broad.mit.edu	37	1	155182223	155182223	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:155182223G>A	ENST00000368376.3	+	5	925	c.819G>A	c.(817-819)cgG>cgA	p.R273R	MTX1_ENST00000481771.1_3'UTR|RP11-263K19.6_ENST00000455788.1_RNA|MTX1_ENST00000316721.4_Silent_p.R242R	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	273					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAGTGACCCGGAAGTGGTATG	0.552000													9	53					0	0	0.000978	0	0
CDH18	1016	broad.mit.edu	37	5	19483617	19483617	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:19483617T>C	ENST00000507958.1	-	14	2665	c.1675A>G	c.(1675-1677)Act>Gct	p.T559A	CDH18_ENST00000274170.4_Missense_Mutation_p.T559A|CDH18_ENST00000502796.1_Intron|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000382275.1_Missense_Mutation_p.T559A			Q13634	CAD18_HUMAN	cadherin 18, type 2	559	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCCTGAACAGTTCGACTAAAT	0.458000													5	12					0	0	0.000602	0	0
NLRC5	84166	broad.mit.edu	37	16	57060009	57060009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:57060009C>T	ENST00000436936.1	+	6	1379	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	NLRC5_ENST00000539144.1_Missense_Mutation_p.S385L|NLRC5_ENST00000308149.7_Missense_Mutation_p.S385L|NLRC5_ENST00000262510.6_Missense_Mutation_p.S385L			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	385	NACHT.				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 interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|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|protein binding|RNA polymerase II core promoter sequence-specific DNA 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)				GCCCAGCCATCGCGGGAGGGG	0.612000													35	103					0	0	0.005524	0	0
ASXL2	55252	broad.mit.edu	37	2	25972779	25972779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:25972779G>A	ENST00000435504.4	-	12	1939	c.1646C>T	c.(1645-1647)aCt>aTt	p.T549I	ASXL2_ENST00000336112.4_Missense_Mutation_p.T521I|ASXL2_ENST00000404843.1_Missense_Mutation_p.T289I|ASXL2_ENST00000272341.4_Missense_Mutation_p.T289I			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCATATTAGTCTCCTGTGG	0.502000													21	55					0	0	0.010504	0	0
OR8B8	26493	broad.mit.edu	37	11	124310337	124310337	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:124310337G>A	ENST00000328064.2	-	1	717	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		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;0.0277)		CATAGGAAATGAAGATGGTGA	0.483000													20	58					0	0	0.001882	0	0
MUC16	94025	broad.mit.edu	37	19	9061224	9061224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9061224G>A	ENST00000397910.4	-	3	26425	c.26222C>T	c.(26221-26223)tCc>tTc	p.S8741F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8743	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						TTCTGTTCTGGAGACCTTAGT	0.483000													9	26					0	0	0.006214	0	0
NOP58	51602	broad.mit.edu	37	2	203149091	203149091	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:203149091C>T	ENST00000264279.5	+	5	547	c.321C>T	c.(319-321)atC>atT	p.I107I	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	107					cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TCAGTTGTATCCATAGTCCTG	0.338000													7	10					0	0	0.001984	0	0
SLC39A8	64116	broad.mit.edu	37	4	103189132	103189132	+	Silent	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:103189132A>G	ENST00000424970.2	-	7	1260	c.945T>C	c.(943-945)aaT>aaC	p.N315N	SLC39A8_ENST00000394833.2_Silent_p.N315N|SLC39A8_ENST00000356736.4_Silent_p.N315N	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	315						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		CATCGATGAAATTGTGGAGGG	0.502000													19	55					0	0	0.007413	0	0
NLRP7	199713	broad.mit.edu	37	19	55449500	55449500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:55449500C>T	ENST00000588756.1	-	7	2527	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	NLRP7_ENST00000448121.2_Missense_Mutation_p.E653K|NLRP7_ENST00000590030.1_Missense_Mutation_p.E681K|NLRP7_ENST00000328092.5_Missense_Mutation_p.E653K|NLRP7_ENST00000340844.2_Missense_Mutation_p.E681K|NLRP7_ENST00000446217.1_Missense_Mutation_p.E709K|NLRP7_ENST00000592784.1_Missense_Mutation_p.E681K			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	681							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGTTTCACTTCCAGAAACTTG	0.498000													39	90					0	0	0.006999	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853576	12853576	+	Missense_Mutation	SNP	G	G	A	rs1063759		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:12853576G>A	ENST00000332296.7	+	2	303	c.200G>A	c.(199-201)gGa>gAa	p.G67E		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	67										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCCTCTGGGATCACTGATG	0.542000													38	89					0	0	0.002852	0	0
C2orf71	388939	broad.mit.edu	37	2	29295755	29295755	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:29295755G>A	ENST00000331664.5	-	1	1372	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	458					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AATCCCAAAGGAATCACATGG	0.557000													17	48					0	0	0.006122	0	0
CAV3	859	broad.mit.edu	37	3	8787421	8787421	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:8787421G>A	ENST00000343849.2	+	2	401	c.324G>A	c.(322-324)aaG>aaA	p.K108K	CAV3_ENST00000397368.2_Silent_p.K108K|CAV3_ENST00000472766.1_Intron	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	108	Required for interaction with DAG1.				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						CATGCATTAAGAGCTACCTGA	0.607000													10	22					0	0	0.006214	0	0
XKR4	114786	broad.mit.edu	37	8	56435931	56435931	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:56435931C>T	ENST00000327381.5	+	3	1198	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	366						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			ACAAGAAGCCCATCAGCTACA	0.587000													12	34					0	0	0.002450	0	0
RIMKLA	284716	broad.mit.edu	37	1	42880252	42880252	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:42880252C>T	ENST00000431473.3	+	5	912	c.783C>T	c.(781-783)ctC>ctT	p.L261L		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	261	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCATTGATCTCCTTATCATGG	0.517000													63	146					0	0	0.003610	0	0
KCNK1	3775	broad.mit.edu	37	1	233807093	233807093	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:233807093C>T	ENST00000366621.3	+	3	996	c.828C>T	c.(826-828)ttC>ttT	p.F276F	KCNK1_ENST00000366620.1_Silent_p.F160F|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	276						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TGAAAAAATTCAGAAAAATGT	0.463000													14	23					0	0	0.002450	0	0
PDE3A	5139	broad.mit.edu	37	12	20832983	20832983	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:20832983G>A	ENST00000359062.3	+	16	3244	c.3204G>A	c.(3202-3204)agG>agA	p.R1068R	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1068	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTTTCAAAAGGAGAAAAATCT	0.358000													7	21					0	0	0.001984	0	0
KLRB1	3820	broad.mit.edu	37	12	9760381	9760381	+	Missense_Mutation	SNP	C	C	T	rs144231382	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:9760381C>T	ENST00000229402.3	-	1	101	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	19					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						GAAGAACTTTCTGGGCCTGAG	0.413000													19	45					0	0	0.001882	0	0
PTPRB	5787	broad.mit.edu	37	12	71029530	71029530	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:71029530C>T	ENST00000334414.6	-	2	416	c.372G>A	c.(370-372)agG>agA	p.R124R	PTPRB_ENST00000551525.1_Silent_p.R123R|PTPRB_ENST00000550358.1_Silent_p.R124R|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGAGGTATTTCCTGGCCTTCT	0.463000													9	30					0	0	0.008291	0	0
COL13A1	1305	broad.mit.edu	37	10	71655329	71655329	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:71655329C>T	ENST00000356340.3	+	11	1190	c.654C>T	c.(652-654)caC>caT	p.H218H	COL13A1_ENST00000398966.3_Silent_p.H218H|COL13A1_ENST00000398968.3_Silent_p.H218H|COL13A1_ENST00000354547.3_Silent_p.H218H|COL13A1_ENST00000398971.3_Silent_p.H218H|COL13A1_ENST00000398978.3_Silent_p.H218H|COL13A1_ENST00000398972.3_Silent_p.H218H|COL13A1_ENST00000520133.1_Silent_p.H189H|COL13A1_ENST00000398973.3_Silent_p.H218H|COL13A1_ENST00000520267.1_Silent_p.H180H|COL13A1_ENST00000522165.1_Silent_p.H218H|COL13A1_ENST00000398969.3_Silent_p.H180H|COL13A1_ENST00000357811.3_Silent_p.H218H|COL13A1_ENST00000517713.1_Silent_p.H218H|COL13A1_ENST00000398974.3_Silent_p.H206H|COL13A1_ENST00000398964.3_Silent_p.H189H			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	218	Nonhelical region 2 (NC2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AGTACCCACACCGGGTAAGTG	0.572000													15	34					0	0	0.004007	0	0
NLRP9	338321	broad.mit.edu	37	19	56243537	56243537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:56243537C>T	ENST00000332836.2	-	2	1687	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	554						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AATTCTTTTTCCTGAGTTTCA	0.348000													10	18					0	0	0.001368	0	0
L1TD1	54596	broad.mit.edu	37	1	62672651	62672651	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:62672651G>A	ENST00000498273.1	+	3	646	c.351G>A	c.(349-351)ggG>ggA	p.G117G		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	117										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						ggatggtagggaaaatagaag	0.328000													16	66					0	0	0.008871	0	0
CCL8	6355	broad.mit.edu	37	17	32647872	32647872	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:32647872G>A	ENST00000394620.1	+	3	712	c.246G>A	c.(244-246)tgG>tgA	p.W82*		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	82					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				AGGAGAGATGGGTCAGGGATT	0.478000													6	25					0	0	0.003080	0	0
KDR	3791	broad.mit.edu	37	4	55968074	55968074	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:55968074G>A	ENST00000263923.4	-	15	2551	c.2256C>T	c.(2254-2256)ttC>ttT	p.F752F		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	752	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCTATTATGAAAAATGCCT	0.468000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			20	43					0	0	0.010504	0	0
COL6A6	131873	broad.mit.edu	37	3	130311941	130311941	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:130311941G>A	ENST00000358511.6	+	15	4439	c.4408G>A	c.(4408-4410)Gga>Aga	p.G1470R	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1470R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1470	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGGATTAAACGGAGAACAGGT	0.378000													48	128					0	0	0.003610	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392675	22392675	+	RNA	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:22392675T>C	ENST00000390440.2	+	0	273																											GGGAAATGATTTTTCTTATTT	0.443000													26	58					0	0	0.002445	0	0
ST18	9705	broad.mit.edu	37	8	53044558	53044558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:53044558C>T	ENST00000276480.7	-	22	3309	c.2626G>A	c.(2626-2628)Ggg>Agg	p.G876R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	876						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGCCCAGCCCATTGCAGCCT	0.493000													11	43					0	0	0.001855	0	0
MCTP1	79772	broad.mit.edu	37	5	94134766	94134766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:94134766C>T	ENST00000515393.1	-	18	2507	c.2508G>A	c.(2506-2508)tgG>tgA	p.W836*	MCTP1_ENST00000505078.1_Nonsense_Mutation_p.W352*|MCTP1_ENST00000429576.2_Intron|MCTP1_ENST00000312216.8_Nonsense_Mutation_p.W615*	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	836					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AGAAGTAGTTCCATGTCAATA	0.388000													6	19					0	0	0.001168	0	0
INPP5D	3635	broad.mit.edu	37	2	234106748	234106748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:234106748C>T	ENST00000359570.5	+	27	2665	c.2665C>T	c.(2665-2667)Ccg>Tcg	p.P889S	INPP5D_ENST00000450745.1_Missense_Mutation_p.P653S|INPP5D_ENST00000455936.2_Missense_Mutation_p.P653S			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	901					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			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)		CAGGGCCCCTCCGTGCAGTGG	0.597000													4	13					0	0	0.009096	0	0
ZNF398	57541	broad.mit.edu	37	7	148863293	148863293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:148863293C>T	ENST00000475153.1	+	3	731	c.464C>T	c.(463-465)cCa>cTa	p.P155L	ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.P160L			Q8TD17	ZN398_HUMAN	zinc finger protein 398	155	KRAB.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TTTTCCACTCCAGAGTGGGAA	0.398000													14	45					0	0	0.002450	0	0
OR4C46	119749	broad.mit.edu	37	11	51515764	51515764	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:51515764C>T	ENST00000328188.1	+	1	483	c.483C>T	c.(481-483)atC>atT	p.I161I		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCCTCTTCATCTTCCAATTAC	0.463000													27	46					0	0	0.005443	0	0
SCN1A	6323	broad.mit.edu	37	2	166904164	166904164	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:166904164C>T	ENST00000423058.2	-	8	1160	c.1143G>A	c.(1141-1143)caG>caA	p.Q381Q	SCN1A_ENST00000375405.3_Silent_p.Q381Q|SCN1A_ENST00000303395.4_Silent_p.Q381Q|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Silent_p.Q381Q	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	381						voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	CCCAGAAGTCCTGAGTCATTA	0.358000													17	52					0	0	0.004007	0	0
CLCN4	1183	broad.mit.edu	37	X	10176399	10176399	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:10176399C>T	ENST00000380833.4	+	9	1549	c.1158C>T	c.(1156-1158)ccC>ccT	p.P386P	CLCN4_ENST00000421085.2_Silent_p.P292P|CLCN4_ENST00000380829.1_Silent_p.P355P	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	386						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTGCCTACCCCAATCCCTACA	0.567000													50	20					0	0	0.003610	0	0
LAMC1	3915	broad.mit.edu	37	1	183083788	183083788	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:183083788T>G	ENST00000258341.4	+	5	1401	c.1144T>G	c.(1144-1146)Tgc>Ggc	p.C382G		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	382	Laminin EGF-like 2.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTGAGAGGTGCCGAGAGAA	0.522000													33	55					0	0	0.009535	0	0
SSPO	23145	broad.mit.edu	37	7	149497078	149497078	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:149497078C>T	ENST00000378016.2	+	0	7118							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGTGACTCCAGCGACCCCT	0.617000													10	34					0	0	0.000978	0	0
MYT1L	23040	broad.mit.edu	37	2	1926949	1926949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:1926949C>T	ENST00000399161.2	-	10	1339	c.592G>A	c.(592-594)Gat>Aat	p.D198N	MYT1L_ENST00000428368.2_Missense_Mutation_p.D198N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	198					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCAGTTCATCGTAATTGTCA	0.408000													11	10					0	0	0.000978	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430968	37430968	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:37430968G>A	ENST00000374660.1	+	7	1074	c.975G>A	c.(973-975)agG>agA	p.R325R	ANKRD30A_ENST00000602533.1_Silent_p.R325R|ANKRD30A_ENST00000361713.1_Silent_p.R325R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	381						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						GAAGACCTAGGAAGATCGCAT	0.428000													26	42					0	0	0.004656	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411082	32411082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:32411082G>A	ENST00000395388.2	+	3	558	c.449G>A	c.(448-450)gGa>gAa	p.G150E	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.G125E	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	150	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						CTTCGAAATGGAAAACCTGTC	0.527000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				38	42					0	0	0.004878	0	0
NPC1L1	29881	broad.mit.edu	37	7	44560379	44560379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:44560379C>T	ENST00000289547.4	-	14	3176	c.3121G>A	c.(3121-3123)Gat>Aat	p.D1041N	NPC1L1_ENST00000381160.3_Missense_Mutation_p.D1041N|NPC1L1_ENST00000546276.1_Missense_Mutation_p.D995N	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1041					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACCTGGCCATCTGAAGTCAAG	0.567000													20	39					0	0	0.010504	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361566	70361566	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:70361566C>T	ENST00000305107.6	-	1	60	c.14G>A	c.(13-15)tGg>tAg	p.W5*	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.W5*	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	5					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						AGCTGAAGTCCATTTCATAGA	0.448000													19	63					0	0	0.008871	0	0
SALL1	6299	broad.mit.edu	37	16	51175809	51175809	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:51175809C>T	ENST00000440970.1	-	2	464	c.33G>A	c.(31-33)gtG>gtA	p.V11V	SALL1_ENST00000251020.4_Silent_p.V108V|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	108					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 transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA 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)			CGCTGCAGTCCACTTGATCTG	0.532000													29	65					0	0	0.002445	0	0
PTPRF	5792	broad.mit.edu	37	1	44085233	44085233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:44085233C>T	ENST00000359947.4	+	28	5261	c.4921C>T	c.(4921-4923)Ctc>Ttc	p.L1641F	PTPRF_ENST00000372414.3_Missense_Mutation_p.L1641F|PTPRF_ENST00000372413.3_Missense_Mutation_p.L1632F|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.L1000F|PTPRF_ENST00000438120.1_Missense_Mutation_p.L1632F	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1641	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGCCATGGAGCTCGAGTTCAA	0.652000													18	35					0	0	0.002780	0	0
CARD6	84674	broad.mit.edu	37	5	40853623	40853623	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:40853623A>T	ENST00000254691.5	+	3	2388	c.2189A>T	c.(2188-2190)aAc>aTc	p.N730I	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	730					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GTTCTAGAGAACTCCTGGCTC	0.502000													46	157					0	0	0.003610	0	0
STAB2	55576	broad.mit.edu	37	12	104155081	104155081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:104155081G>A	ENST00000388887.2	+	66	7456	c.7252G>A	c.(7252-7254)Gag>Aag	p.E2418K	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2418	FAS1 7.				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						TCCCTAGACGGAGACCAGGTT	0.517000													20	50					0	0	0.002780	0	0
CACNG5	27091	broad.mit.edu	37	17	64875095	64875095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:64875095G>A	ENST00000533854.1	+	3	439	c.202G>A	c.(202-204)Gag>Aag	p.E68K	CACNG5_ENST00000169565.3_Missense_Mutation_p.E68K|CACNG5_ENST00000307139.3_Missense_Mutation_p.E68K			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	68					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CACAGGTGAGGAGCGGGGGCG	0.468000													20	50					0	0	0.002299	0	0
DMD	1756	broad.mit.edu	37	X	32632560	32632560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:32632560C>T	ENST00000357033.4	-	12	1548	c.1342G>A	c.(1342-1344)Gtt>Att	p.V448I	DMD_ENST00000288447.4_Missense_Mutation_p.V440I|DMD_ENST00000378677.2_Missense_Mutation_p.V444I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	448					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCATTAAAACTCTATGTAAA	0.323000													5	3					0	0	0.000602	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765998	18765998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:18765998C>T	ENST00000304081.4	-	4	605	c.505G>A	c.(505-507)Gac>Aac	p.D169N	NT5C1B_ENST00000359846.2_Missense_Mutation_p.D229N|NT5C1B_ENST00000600945.1_Missense_Mutation_p.D229N|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.D229N	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GGCTGCGAGTCCCGGGTCTGG	0.677000													10	22					0	0	0.001368	0	0
BRINP3	339479	broad.mit.edu	37	1	190234050	190234050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:190234050C>T	ENST00000367462.3	-	4	794	c.563G>A	c.(562-564)aGg>aAg	p.R188K	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R86K|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		188						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GGTGCTGTCCCTGTCAATGAA	0.443000													11	41					0	0	0.000978	0	0
TIGD5	84948	broad.mit.edu	37	8	144680469	144680469	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:144680469C>T	ENST00000504548.2	+	1	396	c.396C>T	c.(394-396)ttC>ttT	p.F132F	TIGD5_ENST00000321385.3_Silent_p.F83F	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	132					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACGCCTGGTTCCTGGCGCTGC	0.697000													4	12					0	0	0.000602	0	0
BCL11B	64919	broad.mit.edu	37	14	99640494	99640494	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:99640494C>T	ENST00000345514.2	-	3	2732	c.2466G>A	c.(2464-2466)agG>agA	p.R822R	BCL11B_ENST00000357195.3_Silent_p.R893R|BCL11B_ENST00000443726.2_Silent_p.R699R	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	893						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)		gcgcTTAGCTCCTCTCGGCCT	0.612000			T	TLX3	T-ALL								7	19					0	0	0.003080	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142197670	142197670	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:142197670G>A	ENST00000471935.1	-	0	307																											GCAGAAAATCGATCCTTAGGC	0.498000													15	53					0	0	0.003163	0	0
TERT	7015	broad.mit.edu	37	5	1260659	1260659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:1260659C>T	ENST00000310581.5	-	12	2957	c.2900G>A	c.(2899-2901)gGg>gAg	p.G967E	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.G904E	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	967	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CATGTTCCTCCCAGCCTTGAA	0.577000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				16	32					0	0	0.004990	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107034960	107034960	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:107034960G>A	ENST00000390626.2	-	0	178																											AACCCTTACAGGAGATCTTCA	0.562000													6	10					0	0	0.001168	0	0
TRERF1	55809	broad.mit.edu	37	6	42236163	42236163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:42236163G>A	ENST00000541110.1	-	5	1734	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L	TRERF1_ENST00000340840.2_Missense_Mutation_p.P389L|TRERF1_ENST00000372917.4_Missense_Mutation_p.P389L|TRERF1_ENST00000372922.4_Missense_Mutation_p.P389L|TRERF1_ENST00000354325.2_Missense_Mutation_p.P389L			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	389	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGTAGAGGGGGTGGCTGTA	0.612000													35	118					0	0	0.003755	0	0
HYDIN	54768	broad.mit.edu	37	16	71098709	71098709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:71098709C>T	ENST00000393567.2	-	16	2260	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K	HYDIN_ENST00000538248.1_Missense_Mutation_p.E731K|HYDIN_ENST00000321489.5_Missense_Mutation_p.E704K|HYDIN_ENST00000541601.1_Missense_Mutation_p.E721K|HYDIN_ENST00000448089.2_Missense_Mutation_p.E704K|HYDIN_ENST00000448691.1_Missense_Mutation_p.E704K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	704										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)				AAGTCCACCTCTGTATTGACC	0.502000													28	32					0	0	0.007291	0	0
C1orf173	127254	broad.mit.edu	37	1	75065500	75065500	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:75065500T>A	ENST00000326665.5	-	11	1823	c.1605A>T	c.(1603-1605)aaA>aaT	p.K535N	C1orf173_ENST00000420661.2_Missense_Mutation_p.K338N|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	535	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						CTAAATTATCTTTTTTATCAT	0.403000													23	69					0	0	0.003330	0	0
HM13	81502	broad.mit.edu	37	20	30142557	30142557	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:30142557C>T	ENST00000335574.5	+	8	857	c.733C>T	c.(733-735)Ccc>Tcc	p.P245S	HM13_ENST00000398174.3_Missense_Mutation_p.P245S|HM13_ENST00000340852.5_Missense_Mutation_p.P245S|HM13_ENST00000376127.3_Missense_Mutation_p.P203S|HM13_ENST00000492709.1_3'UTR	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	245					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AGTGGTGTTTCCCCAGGATCT	0.532000													15	33					0	0	0.004007	0	0
CEACAM5	1048	broad.mit.edu	37	19	42221515	42221515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:42221515C>T	ENST00000221992.6	+	5	1214	c.1100C>T	c.(1099-1101)cCc>cTc	p.P367L	CEACAM5_ENST00000398599.4_Missense_Mutation_p.P366L|CEACAM5_ENST00000405816.1_Missense_Mutation_p.P367L|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	367	Ig-like 4.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCGGTCAGTCCCAGGCTGCAG	0.498000													39	88					0	0	0.002852	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140795001	140795001	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140795001C>T	ENST00000398610.2	+	1	2259	c.2259C>T	c.(2257-2259)ttC>ttT	p.F753F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGGGCTTTCCTGCAGACCT	0.627000													13	39					0	0	0.001855	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089501	113089501	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:113089501C>T	ENST00000409871.1	+	12	3407	c.3006C>T	c.(3004-3006)aaC>aaT	p.N1002N	ZC3H6_ENST00000343936.4_Silent_p.N1002N	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1002							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CCAGATCAAACCCTGGTTCAT	0.522000													8	16					0	0	0.004482	0	0
NXPH3	11248	broad.mit.edu	37	17	47656122	47656122	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:47656122G>A	ENST00000328741.5	+	2	581	c.219G>A	c.(217-219)ggG>ggA	p.G73G	NXPH3_ENST00000513748.1_Silent_p.G73G	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	73	II.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CCCCGCCTGGGGAGGCTTGGG	0.672000													32	47					0	0	0.006230	0	0
ARFIP2	23647	broad.mit.edu	37	11	6500164	6500164	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:6500164C>T	ENST00000254584.2	-	5	424	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	ARFIP2_ENST00000525235.1_Missense_Mutation_p.R114Q|ARFIP2_ENST00000423813.2_Missense_Mutation_p.R76Q|ARFIP2_ENST00000445086.2_Missense_Mutation_p.R29Q|ARFIP2_ENST00000396777.3_Missense_Mutation_p.R114Q	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	114					actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCGACCAAATCGTTCTGATAA	0.537000													6	16					0	0	0.001984	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153270515	153270515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:153270515C>T	ENST00000290722.1	-	7	995	c.943G>A	c.(943-945)Ggc>Agc	p.G315S		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	315					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			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCACTGTGGCCCATCAGCAGG	0.577000													53	164					0	0	0.003610	0	0
VPS13B	157680	broad.mit.edu	37	8	100847491	100847491	+	Silent	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:100847491T>C	ENST00000358544.2	+	53	9867	c.9756T>C	c.(9754-9756)agT>agC	p.S3252S	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.S3227S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3252					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGACCCTAGTCCTCGAGTAA	0.343000													7	21					0	0	0.003080	0	0
DSG3	1830	broad.mit.edu	37	18	29036436	29036436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:29036436G>A	ENST00000257189.4	+	2	165	c.82G>A	c.(82-84)Gag>Aag	p.E28K		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	28					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTGCGAATAGAGGTAAAGTA	0.229000													6	24					0	0	0.001168	0	0
LTBP1	4052	broad.mit.edu	37	2	33525604	33525604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:33525604G>A	ENST00000404816.2	+	21	3675	c.3322G>A	c.(3322-3324)Ggg>Agg	p.G1108R	LTBP1_ENST00000407925.1_Missense_Mutation_p.G782R|LTBP1_ENST00000418533.2_Missense_Mutation_p.G782R|LTBP1_ENST00000390003.4_Missense_Mutation_p.G783R|LTBP1_ENST00000272273.5_Missense_Mutation_p.G48R|LTBP1_ENST00000354476.3_Missense_Mutation_p.G1109R|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000402934.1_Missense_Mutation_p.G729R|LTBP1_ENST00000404525.1_Missense_Mutation_p.G729R			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1108	EGF-like 9; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGTGGACAGGGGTACCAGCT	0.468000													8	25					0	0	0.006214	0	0
IGHV3-43	28426	broad.mit.edu	37	14	106926618	106926618	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:106926618G>A	ENST00000434710.1	-	0	106																											TAGCAACAAGGAAAACCCAGC	0.473000													25	62					0	0	0.006320	0	0
SLC35F4	341880	broad.mit.edu	37	14	58060780	58060780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:58060780C>T	ENST00000556826.1	-	2	402	c.166G>A	c.(166-168)Ggc>Agc	p.G56S	SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000339762.6_Missense_Mutation_p.G92S|SLC35F4_ENST00000557430.1_5'UTR	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTACTGATGCCACTGTGTGAA	0.493000													7	17					0	0	0.004482	0	0
CP	1356	broad.mit.edu	37	3	148924025	148924025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:148924025C>T	ENST00000264613.6	-	6	1400	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	380	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CAGATGATTTCCTCAGCGGCA	0.403000													14	40					0	0	0.003163	0	0
CPNE1	8904	broad.mit.edu	37	20	34215288	34215288	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:34215288G>A	ENST00000317619.3	-	16	1544	c.1150C>T	c.(1150-1152)Cgc>Tgc	p.R384C	CPNE1_ENST00000397443.1_Missense_Mutation_p.R384C|CPNE1_ENST00000397445.1_Missense_Mutation_p.R384C|CPNE1_ENST00000317677.5_Missense_Mutation_p.R389C|CPNE1_ENST00000397446.1_Missense_Mutation_p.R384C|CPNE1_ENST00000352393.4_Missense_Mutation_p.R384C|CPNE1_ENST00000397442.1_Missense_Mutation_p.R384C			Q99829	CPNE1_HUMAN	copine I	384	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	p.R384C(2)		breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCATAGAGGCGAACTTGGGGC	0.577000													22	35					0	0	0.005443	0	0
IRF7	3665	broad.mit.edu	37	11	613290	613290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:613290C>T	ENST00000397566.1	-	7	1601	c.1192G>A	c.(1192-1194)Ggc>Agc	p.G398S	IRF7_ENST00000397570.1_Missense_Mutation_p.G356S|IRF7_ENST00000397574.2_Missense_Mutation_p.G385S|IRF7_ENST00000525445.1_Missense_Mutation_p.G279S|IRF7_ENST00000330243.5_Missense_Mutation_p.G398S|IRF7_ENST00000348655.6_Missense_Mutation_p.G356S|IRF7_ENST00000397562.3_Missense_Mutation_p.G92S	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	385					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGCGGAGCCTGGGGGTCCG	0.672000													16	23					0	0	0.004007	0	0
PLCL2	23228	broad.mit.edu	37	3	17052138	17052138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:17052138C>T	ENST00000418129.2	+	2	1387	c.922C>T	c.(922-924)Cat>Tat	p.H308Y	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.H308Y|PLCL2_ENST00000432376.1_Missense_Mutation_p.H308Y	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	434					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.H308D(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ACCTCTGTCTCATTACTTTAT	0.393000													16	67					0	0	0.004990	0	0
SSPO	23145	broad.mit.edu	37	7	149486764	149486764	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:149486764G>A	ENST00000378016.2	+	0	4538							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTGTGACGGAGTCTGGGAC	0.657000													5	9					0	0	0.000602	0	0
TFAP2C	7022	broad.mit.edu	37	20	55209280	55209280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:55209280G>A	ENST00000201031.2	+	5	1121	c.878G>A	c.(877-879)aGg>aAg	p.R293K	TFAP2C_ENST00000544508.1_Missense_Mutation_p.R124K	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	293	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CCGGCCGGGAGGCGGAAAGCC	0.463000													13	25					0	0	0.001368	0	0
TRIM3	10612	broad.mit.edu	37	11	6472639	6472639	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:6472639G>A	ENST00000525074.1	-	8	1957	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	TRIM3_ENST00000537602.1_Silent_p.F443F|TRIM3_ENST00000345851.3_Silent_p.F521F|TRIM3_ENST00000359518.3_Silent_p.F521F|TRIM3_ENST00000536344.1_Silent_p.F402F	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	521					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAAAACGGAACTTGAACT	0.582000													19	41					0	0	0.001882	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508003	37508003	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:37508003G>A	ENST00000374660.1	+	40	3651	c.3552G>A	c.(3550-3552)ctG>ctA	p.L1184L	ANKRD30A_ENST00000602533.1_Silent_p.L1065L|ANKRD30A_ENST00000361713.1_Silent_p.L1065L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1153						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						TAGCCACACTGAAACACCAAT	0.323000													12	39					0	0	0.000978	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12918948	12918948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:12918948G>A	ENST00000240189.2	+	2	171	c.84G>A	c.(82-84)atG>atA	p.M28I		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	28										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCTGCCATGGAGGAGCTGC	0.607000													33	63					0	0	0.002445	0	0
TDRD9	122402	broad.mit.edu	37	14	104472727	104472727	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:104472727T>C	ENST00000409874.4	+	16	1763	c.1713_splice	c.e16-1	p.V572_splice	TDRD9_ENST00000339063.5_Splice_Site_p.V572_splice	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	572					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TTTATAAAGGTTGGAGCACTT	0.393000													15	38					0	0	0.003163	0	0
MIR7-3HG	284424	broad.mit.edu	37	19	4770784	4770784	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:4770784C>T	ENST00000586721.1	+	0	509				MIR7-3_ENST00000384898.1_RNA																							GCGCAGACTCCCTTCGACCTT	0.572000													21	38					0	0	0.008871	0	0
HTR1A	3350	broad.mit.edu	37	5	63257040	63257040	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:63257040G>A	ENST00000323865.3	-	1	740	c.507C>T	c.(505-507)atC>atT	p.I169I	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	169					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCATGGGCGGGATAGAGATGA	0.612000													44	93					0	0	0.003610	0	0
LAMA1	284217	broad.mit.edu	37	18	6948508	6948508	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:6948508G>A	ENST00000389658.3	-	60	8697	c.8604C>T	c.(8602-8604)agC>agT	p.S2868S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2868	Laminin G-like 4.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAGCTGTTTGCTGTTAACCG	0.527000													15	20					0	0	0.002450	0	0
SOGA3	387104	broad.mit.edu	37	6	127796913	127796913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:127796913G>A	ENST00000556132.1	-	6	3122	c.2258C>T	c.(2257-2259)gCc>gTc	p.A753V	SOGA3_ENST00000465909.2_Missense_Mutation_p.A753V|SOGA3_ENST00000368268.2_Missense_Mutation_p.A753V|SOGA3_ENST00000481848.2_Missense_Mutation_p.A753V|SOGA3_ENST00000525778.1_Missense_Mutation_p.A753V	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	753						integral to membrane											GTCGCTCTCGGCGTCGCTGTC	0.692000													31	80					0	0	0.002836	0	0
SH3BP2	6452	broad.mit.edu	37	4	2831772	2831772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:2831772C>T	ENST00000356331.5	+	8	1400	c.1139C>T	c.(1138-1140)cCc>cTc	p.P380L	SH3BP2_ENST00000511747.1_Missense_Mutation_p.P380L|SH3BP2_ENST00000452765.2_Missense_Mutation_p.P380L|SH3BP2_ENST00000435136.2_Missense_Mutation_p.P380L|SH3BP2_ENST00000503393.2_Missense_Mutation_p.P437L|SH3BP2_ENST00000442312.2_Missense_Mutation_p.P408L	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	380					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TTTGTGCCCCCCGTGGCTCCC	0.682000									Cherubism				11	33					0	0	0.000978	0	0
PSEN1	5663	broad.mit.edu	37	14	73640349	73640349	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:73640349C>T	ENST00000324501.5	+	5	686	c.414C>T	c.(412-414)atC>atT	p.I138I	PSEN1_ENST00000394164.1_Silent_p.I134I|PSEN1_ENST00000394157.3_Silent_p.I138I|PSEN1_ENST00000357710.4_Silent_p.I134I|PSEN1_ENST00000344094.3_Silent_p.I138I|PSEN1_ENST00000557511.1_Silent_p.I138I|PSEN1_ENST00000261970.3_Silent_p.I138I|PSEN1_ENST00000406768.1_Silent_p.I46I	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	138					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		ATGCTGCCATCATGATCAGTG	0.443000													21	44					0	0	0.010504	0	0
KPNA3	3839	broad.mit.edu	37	13	50306751	50306751	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:50306751G>A	ENST00000261667.3	-	5	691	c.277C>T	c.(277-279)Cag>Tag	p.Q93*		NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)	93					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CTTGCTGCCTGGACAGCACTC	0.328000													28	56					0	0	0.002836	0	0
COL5A2	1290	broad.mit.edu	37	2	189962046	189962046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:189962046C>T	ENST00000374866.3	-	6	687	c.413G>A	c.(412-414)gGa>gAa	p.G138E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	138					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCCTGTGATCCTGGAGGTCC	0.408000													9	24					0	0	0.008291	0	0
KCNC2	3747	broad.mit.edu	37	12	75442073	75442073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:75442073C>T	ENST00000549446.1	-	4	2320	c.1640G>A	c.(1639-1641)gGa>gAa	p.G547E	KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000550433.1_Missense_Mutation_p.G547E|KCNC2_ENST00000341669.3_Missense_Mutation_p.G547E|KCNC2_ENST00000548243.1_Intron|KCNC2_ENST00000298972.1_Missense_Mutation_p.G547E|KCNC2_ENST00000548513.1_Missense_Mutation_p.G547E|KCNC2_ENST00000393288.2_Missense_Mutation_p.G547E|KCNC2_ENST00000540018.1_Intron	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	547					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CGGCTCACTTCCTGTACTGTC	0.478000													15	27					0	0	0.004007	0	0
PRSS35	167681	broad.mit.edu	37	6	84233438	84233438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:84233438G>A	ENST00000536636.1	+	3	623	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	PRSS35_ENST00000369700.3_Missense_Mutation_p.R93Q	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	93					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)		AATGGCACCCGAACCTTAACC	0.453000													8	37					0	0	0.004482	0	0
LAMA5	3911	broad.mit.edu	37	20	60897381	60897381	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:60897381G>A	ENST00000252999.3	-	47	6356	c.6290C>T	c.(6289-6291)cCc>cTc	p.P2097L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2097	Laminin EGF-like 21.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGGCACTGGGGTCCCATGGT	0.721000													7	11					0	0	0.001984	0	0
TANGO6	79613	broad.mit.edu	37	16	68941384	68941384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:68941384C>T	ENST00000261778.1	+	10	1718	c.1706C>T	c.(1705-1707)tCc>tTc	p.S569F		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		CAGAAGGTATCCTCTGAGCAG	0.473000													86	139					0	0	0.003610	0	0
KRT16P2	400578	broad.mit.edu	37	17	16734794	16734794	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:16734794G>A	ENST00000579062.1	-	0	521																											GGTCAGTCCTGGCCAGGGTCA	0.622000													3	23					0	0	0.004672	0	0
LY9	4063	broad.mit.edu	37	1	160788098	160788098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:160788098G>A	ENST00000263285.5	+	6	1463	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	LY9_ENST00000368035.1_Missense_Mutation_p.R130Q|LY9_ENST00000368040.1_Missense_Mutation_p.R130Q|LY9_ENST00000341032.4_Missense_Mutation_p.R388Q|LY9_ENST00000368041.2_Missense_Mutation_p.R348Q	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	478					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATTTGGAAGCGAAAAGGACGG	0.522000													11	30					0	0	0.000978	0	0
DNAH5	1767	broad.mit.edu	37	5	13729599	13729599	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:13729599C>T	ENST00000265104.4	-	69	11936	c.11832G>A	c.(11830-11832)ctG>ctA	p.L3944L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3944					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCACCAAATTCAGCCATGTTA	0.373000									Kartagener syndrome				13	28					0	0	0.001855	0	0
KIAA1244	57221	broad.mit.edu	37	6	138531086	138531086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:138531086G>A	ENST00000251691.4	+	4	425	c.259G>A	c.(259-261)Gat>Aat	p.D87N		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	87					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CATGGAAACAGATTCTGATGA	0.488000													17	77					0	0	0.007413	0	0
RXFP1	59350	broad.mit.edu	37	4	159493972	159493972	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:159493972G>A	ENST00000448688.2	+	0	947				RXFP1_ENST00000470033.1_Missense_Mutation_p.D58N|RXFP1_ENST00000343542.5_Missense_Mutation_p.D58N|RXFP1_ENST00000423548.1_Missense_Mutation_p.D58N|RXFP1_ENST00000307765.5_Missense_Mutation_p.D58N|RXFP1_ENST00000460056.2_De_novo_Start_OutOfFrame			Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1							integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GAATCAGGCCGATGAGGACAA	0.532000													14	38					0	0	0.003163	0	0
OR6C3	254786	broad.mit.edu	37	12	55725784	55725784	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:55725784C>T	ENST00000379667.1	+	1	300	c.300C>T	c.(298-300)ttC>ttT	p.F100F		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						AACTCTTTTTCTTTATCTTCA	0.413000													21	43					0	0	0.008871	0	0
SWT1	54823	broad.mit.edu	37	1	185153928	185153928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:185153928C>T	ENST00000367500.4	+	9	1459	c.1294C>T	c.(1294-1296)Cgt>Tgt	p.R432C	SWT1_ENST00000367501.3_Missense_Mutation_p.R432C	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	432	PINc.									breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGAGCTAGATCGTATGAAGGA	0.343000													16	33					0	0	0.006122	0	0
LST3	0	broad.mit.edu	37	12	21196347	21196347	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:21196347C>T	ENST00000381541.3	+	7	872	c.807C>T	c.(805-807)tcC>tcT	p.S269S	SLCO1B7_ENST00000421593.2_Silent_p.S222S|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.S269S|LST3_ENST00000540229.1_Intron																							GAATAGTATCCATTATTTCTT	0.368000													16	43					0	0	0.004990	0	0
PITPNM2	57605	broad.mit.edu	37	12	123498448	123498448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:123498448G>A	ENST00000280562.5	-	3	425	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Missense_Mutation_p.R74C|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Missense_Mutation_p.R74C|PITPNM2_ENST00000546049.1_Missense_Mutation_p.R74C			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	74					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGGATGGAGCGGAACCAGCTG	0.622000													16	39					0	0	0.006122	0	0
EPHB2	2048	broad.mit.edu	37	1	23111538	23111538	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:23111538C>T	ENST00000400191.3	+	3	798	c.780C>T	c.(778-780)ttC>ttT	p.F260F	EPHB2_ENST00000374632.3_Silent_p.F260F|EPHB2_ENST00000374630.3_Silent_p.F260F|EPHB2_ENST00000374627.1_Silent_p.F254F|EPHB2_ENST00000544305.1_Silent_p.F260F	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	260	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AAGCAGGCTTCGAGGCCGTTG	0.617000													18	63					0	0	0.006122	0	0
SCN10A	6336	broad.mit.edu	37	3	38835276	38835276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:38835276C>T	ENST00000449082.2	-	1	225	c.226G>A	c.(226-228)Ggg>Agg	p.G76R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	76					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)	AGGGGCTCCCCGATCAGTTCT	0.562000													35	88					0	0	0.004289	0	0
TNIK	23043	broad.mit.edu	37	3	170912390	170912390	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:170912390G>A	ENST00000436636.2	-	5	685	c.341C>T	c.(340-342)aCc>aTc	p.T114I	TNIK_ENST00000460047.1_Missense_Mutation_p.T114I|TNIK_ENST00000538048.1_Missense_Mutation_p.T114I|TNIK_ENST00000470834.1_Missense_Mutation_p.T114I|TNIK_ENST00000369326.5_Missense_Mutation_p.T114I|TNIK_ENST00000357327.5_Missense_Mutation_p.T114I|TNIK_ENST00000341852.6_Missense_Mutation_p.T114I|TNIK_ENST00000284483.8_Missense_Mutation_p.T114I|TNIK_ENST00000488470.1_Missense_Mutation_p.T114I|TNIK_ENST00000475336.1_Missense_Mutation_p.T114I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	114	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GATCAGGTCGGTGACAGAGCC	0.463000													36	66					0	0	0.005524	0	0
BICD2	23299	broad.mit.edu	37	9	95480098	95480098	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:95480098G>C	ENST00000356884.6	-	6	2306	c.2239C>G	c.(2239-2241)Cgt>Ggt	p.R747G	BICD2_ENST00000375512.3_Missense_Mutation_p.R747G	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	747	Interacts with RAB6A (By similarity).				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AACATAGCACGCAGCGAGGAG	0.577000													9	19					0	0	0.004482	0	0
USP7	7874	broad.mit.edu	37	16	8995974	8995974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:8995974G>A	ENST00000344836.4	-	18	2210	c.2012C>T	c.(2011-2013)gCt>gTt	p.A671V	USP7_ENST00000535863.1_Missense_Mutation_p.A572V|USP7_ENST00000381886.4_Missense_Mutation_p.A655V	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	671	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CGCTCCACTAGCAGCCAGCTC	0.458000													16	46					0	0	0.007413	0	0
CKAP4	10970	broad.mit.edu	37	12	106633346	106633346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:106633346G>A	ENST00000378026.4	-	2	1401	c.1265C>T	c.(1264-1266)tCc>tTc	p.S422F		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	422						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CACCTGCATGGAGAGCACCCC	0.657000													11	60					0	0	0.001368	0	0
P4HA3	283208	broad.mit.edu	37	11	74015355	74015355	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:74015355C>T	ENST00000331597.4	-	2	348	c.303G>A	c.(301-303)agG>agA	p.R101R	P4HA3_ENST00000427714.2_Silent_p.R101R	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	101						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GTACCACATTCCTCCAGTCAG	0.493000													61	92					0	0	0.003610	0	0
MYO1H	283446	broad.mit.edu	37	12	109826641	109826641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:109826641C>T	ENST00000310903.5	+	2	224	c.118C>T	c.(118-120)Ctc>Ttc	p.L40F	MYO1H_ENST00000431443.2_Missense_Mutation_p.L40F			B4DNW6	B4DNW6_HUMAN	myosin IH	166						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CAGCGAGAACCTCATATACGT	0.493000													60	146					0	0	0.003610	0	0
ATP1A2	477	broad.mit.edu	37	1	160090788	160090788	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:160090788G>A	ENST00000361216.3	+	2	194	c.105G>A	c.(103-105)aaG>aaA	p.K35K	ATP1A2_ENST00000392233.3_Silent_p.K35K|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	35					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGCTGAAGAAGGAGGTGGCAA	0.607000													3	8					0	0	0.004672	0	0
NMT1	4836	broad.mit.edu	37	17	43182242	43182242	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:43182242T>C	ENST00000592782.1	+	12	1479	c.1348T>C	c.(1348-1350)Ttc>Ctc	p.F450L	NMT1_ENST00000258960.2_Missense_Mutation_p.F450L			P30419	NMT1_HUMAN	N-myristoyltransferase 1	450					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				GTTTGATGTGTTCAATGCACT	0.483000													21	31					0	0	0.001882	0	0
FAM162A	26355	broad.mit.edu	37	3	122126248	122126248	+	Silent	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:122126248T>C	ENST00000469967.1	+	4	452	c.384T>C	c.(382-384)ggT>ggC	p.G128G	FAM162A_ENST00000232125.5_Intron|FAM162A_ENST00000477892.1_Intron			Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	0						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						TGAGAAGGGGTTTCTTCTCTA	0.443000													3	20					0	0	0.004672	0	0
PCDH18	54510	broad.mit.edu	37	4	138451129	138451129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:138451129G>A	ENST00000344876.4	-	1	2500	c.2114C>T	c.(2113-2115)tCc>tTc	p.S705F	PCDH18_ENST00000412923.2_Missense_Mutation_p.S705F|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.S485F	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	705					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S705F(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGCTCCTAAGGAAATAATTAT	0.423000													19	56					0	0	0.006122	0	0
BBS1	582	broad.mit.edu	37	11	66278144	66278144	+	Missense_Mutation	SNP	C	C	T	rs113994178		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:66278144C>T	ENST00000318312.7	+	1	65	c.14C>T	c.(13-15)tCc>tTc	p.S5F	BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000393994.2_Missense_Mutation_p.S5F|CTD-3074O7.11_ENST00000419755.3_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.S5F|BBS1_ENST00000537537.1_5'UTR	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	5					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GCCGCTGCGTCCTCATCGGAT	0.647000									Bardet-Biedl syndrome				17	21					0	0	0.006122	0	0
MYH2	4620	broad.mit.edu	37	17	10436665	10436665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:10436665C>T	ENST00000245503.5	-	21	2762	c.2378G>A	c.(2377-2379)cGa>cAa	p.R793Q	MYH2_ENST00000397183.2_Missense_Mutation_p.R793Q|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	793	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGCCTGGGTTCGGGTAATCAG	0.473000													16	40					0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179643697	179643697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179643697C>T	ENST00000589042.1	-	24	4336	c.4112G>A	c.(4111-4113)gGa>gAa	p.G1371E	TTN_ENST00000342992.6_Missense_Mutation_p.G1371E|TTN_ENST00000359218.5_Missense_Mutation_p.G1325E|TTN_ENST00000460472.2_Missense_Mutation_p.G1325E|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.G1371E|TTN_ENST00000342175.6_Missense_Mutation_p.G1325E|TTN_ENST00000591111.1_Missense_Mutation_p.G1371E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1371	Ig-like 5.						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)			AATTGCATTTCCTTTAATATT	0.448000													9	24					0	0	0.004482	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519234	113519234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:113519234G>A	ENST00000284601.3	-	4	1981	c.1913C>T	c.(1912-1914)tCa>tTa	p.S638L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	638					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						AATCCCACCTGATTTTTCTTC	0.378000													14	31					0	0	0.001855	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54676174	54676174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:54676174G>A	ENST00000474759.1	+	11	1121	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.G358E|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.G358E|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.G264E	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	358	VWFA.					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)		ACGGGACAAGGAAGTATCTGC	0.408000													8	15					0	0	0.004482	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253818	134253818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:134253818C>T	ENST00000524765.1	-	3	4921	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	B3GAT1_ENST00000392580.1_Missense_Mutation_p.R126Q|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R139Q|B3GAT1_ENST00000312527.4_Missense_Mutation_p.R126Q			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	126					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CAGCGGCGTCCGGCGCGGCGC	0.711000													6	11					0	0	0.001984	0	0
GABRB1	2560	broad.mit.edu	37	4	47427930	47427930	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:47427930C>T	ENST00000295454.3	+	9	1612	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	GABRB1_ENST00000538619.1_Silent_p.I370I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	440					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAGTCAAGATCCCCGACTTGA	0.562000													20	44					0	0	0.007413	0	0
GML	2765	broad.mit.edu	37	8	143927901	143927901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:143927901G>A	ENST00000220940.1	+	4	362	c.272G>A	c.(271-273)gGa>gAa	p.G91E		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	91	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GAAGCCCCAGGAAAAATCTTC	0.388000													12	19					0	0	0.000978	0	0
PPAP2B	8613	broad.mit.edu	37	1	56962279	56962279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:56962279C>T	ENST00000371250.3	-	6	1431	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	294					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GAAAGGATTTCCTTCCGGATA	0.478000													17	35					0	0	0.006122	0	0
SLC17A1	6568	broad.mit.edu	37	6	25811773	25811773	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:25811773C>T	ENST00000244527.4	-	10	1146	c.1030_splice	c.e10-1	p.G344_splice	SLC17A1_ENST00000476801.1_Splice_Site_p.G344_splice|SLC17A1_ENST00000468082.1_Splice_Site_p.G290_splice|SLC17A1_ENST00000427328.1_Splice_Site_p.G290_splice	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	344					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AAGGAGAAATCCTGGGGAGTG	0.473000													13	50					0	0	0.001368	0	0
FLNC	2318	broad.mit.edu	37	7	128484134	128484134	+	Silent	SNP	G	G	A	rs61737781	by1000genomes	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:128484134G>A	ENST00000325888.8	+	20	3267	c.3006G>A	c.(3004-3006)cgG>cgA	p.R1002R	FLNC_ENST00000346177.6_Silent_p.R1002R	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1002					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						TGGATGTGCGGATGACTTCGC	0.662000													12	22					0	0	0.000978	0	0
ABCC6	368	broad.mit.edu	37	16	16267236	16267236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:16267236C>T	ENST00000205557.7	-	21	2721	c.2692G>A	c.(2692-2694)Gac>Aac	p.D898N		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	898					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GTGGTACGGTCCTTCTCAGGG	0.532000													9	45					0	0	0.004482	0	0
CCDC73	493860	broad.mit.edu	37	11	32705056	32705056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:32705056G>A	ENST00000531481.1	-	7	731	c.455C>T	c.(454-456)tCc>tTc	p.S152F	CCDC73_ENST00000534415.1_Intron|CCDC73_ENST00000335185.5_Intron			Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	0										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)					CCAGATGGGGGAAAATATGTT	0.303000													11	21					0	0	0.000978	0	0
SHANK3	85358	broad.mit.edu	37	22	51123077	51123077	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:51123077T>C	ENST00000414786.2	+	9	1255	c.1028T>C	c.(1027-1029)gTt>gCt	p.V343A	SHANK3_ENST00000445220.2_Missense_Mutation_p.V343A|SHANK3_ENST00000262795.3_Missense_Mutation_p.V343A			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	343										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GACTCGGATGTTGGTGAGTTC	0.567000													10	41					0	0	0.006214	0	0
PGBD5	79605	broad.mit.edu	37	1	230461093	230461093	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:230461093G>C	ENST00000321327.2	-	8	1431	c.1432C>G	c.(1432-1434)Ctg>Gtg	p.L478V	PGBD5_ENST00000391860.1_Missense_Mutation_p.L333V|PGBD5_ENST00000525115.1_Missense_Mutation_p.L379V|PGBD5_ENST00000530424.1_5'UTR			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	379						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		ATGTAGCTCAGGTGAGCGGCA	0.537000													55	117					0	0	0.003610	0	0
GSTM4	2948	broad.mit.edu	37	1	110207637	110207637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:110207637C>T	ENST00000326729.5	+	8	840	c.572C>T	c.(571-573)tCc>tTc	p.S191F		NM_147148.2	NP_671489.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	0	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	TTCTAGGTTTCCTGTGGCATA	0.408000													13	20					0	0	0.001855	0	0
BAGE2	85319	broad.mit.edu	37	21	11039257	11039257	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:11039257C>T	ENST00000470054.1	-	0	946									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTCTAACAACTGCAGTTGCT	0.403000													9	167					0	0	0.004482	0	0
PROKR2	128674	broad.mit.edu	37	20	5294809	5294809	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:5294809G>A	ENST00000546004.1	-	2	453	c.207C>T	c.(205-207)atC>atT	p.I69I	PROKR2_ENST00000217270.3_Silent_p.I69I			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	69						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAAAGTTACCGATGCCGCAGA	0.542000										HNSCC(71;0.22)			32	47					0	0	0.002096	0	0
ZNF676	163223	broad.mit.edu	37	19	22362968	22362968	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:22362968G>A	ENST00000397121.2	-	3	1868	c.1551C>T	c.(1549-1551)tcC>tcT	p.S517S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TAAGGATCGAGGACCAGCTGA	0.403000													8	25					0	0	0.003080	0	0
AREL1	9870	broad.mit.edu	37	14	75139651	75139651	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:75139651G>A	ENST00000356357.4	-	11	1820	c.1305C>T	c.(1303-1305)ggC>ggT	p.G435G	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		AGGTCTCAGAGCCTCCTGGGG	0.512000													18	24					0	0	0.008871	0	0
ZNF335	63925	broad.mit.edu	37	20	44581339	44581339	+	Silent	SNP	G	G	A	rs143040607		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:44581339G>A	ENST00000322927.2	-	19	2812	c.2712C>T	c.(2710-2712)ccC>ccT	p.P904P	ZNF335_ENST00000426788.1_Silent_p.P749P	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	904					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCTCTCCTGCGGGCTCCTCGC	0.572000													11	40					0	0	0.000978	0	0
THSD7B	80731	broad.mit.edu	37	2	138400061	138400061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:138400061G>A	ENST00000409968.1	+	21	3981	c.3803G>A	c.(3802-3804)cGa>cAa	p.R1268Q	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1240Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1271Q					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTTTAGGTCGAATGAGCCGG	0.478000													25	70					0	0	0.003954	0	0
AURKA	6790	broad.mit.edu	37	20	54961538	54961538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:54961538G>A	ENST00000395909.4	-	5	659	c.94C>T	c.(94-96)Cct>Tct	p.P32S	AURKA_ENST00000312783.6_Missense_Mutation_p.P32S|AURKA_ENST00000395907.1_Missense_Mutation_p.P32S|AURKA_ENST00000371356.2_Missense_Mutation_p.P32S|AURKA_ENST00000347343.2_Missense_Mutation_p.P32S|AURKA_ENST00000395911.1_Missense_Mutation_p.P32S|AURKA_ENST00000395914.1_Missense_Mutation_p.P32S|AURKA_ENST00000395915.3_Missense_Mutation_p.P32S|AURKA_ENST00000395913.3_Missense_Mutation_p.P32S	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	32					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TTCTGACAAGGAAATTGCTGA	0.443000													15	39					0	0	0.002450	0	0
SYCP1	6847	broad.mit.edu	37	1	115453118	115453118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:115453118G>A	ENST00000369522.3	+	17	1661	c.1421G>A	c.(1420-1422)aGa>aAa	p.R474K	SYCP1_ENST00000369518.1_Missense_Mutation_p.R474K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	474					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		CTCCAAGCCAGAGAGGTTTGT	0.264000													13	18					0	0	0.002450	0	0
LILRP2	79166	broad.mit.edu	37	19	55221631	55221631	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:55221631C>T	ENST00000413439.1	+	0	1411																											GCATCCTGATCGCAGGTGAGG	0.677000													11	23					0	0	0.000978	0	0
NOS3	4846	broad.mit.edu	37	7	150695756	150695756	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:150695756G>A	ENST00000297494.3	+	7	1161	c.804G>A	c.(802-804)gtG>gtA	p.V268V	NOS3_ENST00000461406.1_Silent_p.V62V|NOS3_ENST00000484524.1_Silent_p.V268V|NOS3_ENST00000467517.1_Silent_p.V268V	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	268	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CAGCCAACGTGGAGATCACCG	0.657000													6	13					0	0	0.001168	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153279639	153279639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:153279639C>T	ENST00000290722.1	-	2	212	c.160G>A	c.(160-162)Ggg>Agg	p.G54R		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	54					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			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTGCATCCCTGGGAGCTGG	0.632000													7	13					0	0	0.003080	0	0
SCN1A	6323	broad.mit.edu	37	2	166929996	166929996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:166929996C>T	ENST00000423058.2	-	1	153	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	SCN1A_ENST00000375405.3_Missense_Mutation_p.E46K|SCN1A_ENST00000303395.4_Missense_Mutation_p.E46K|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.E46K	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	46						voltage-gated sodium channel complex	voltage-gated sodium channel activity			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													37	93					0	0	0.006999	0	0
SHANK1	50944	broad.mit.edu	37	19	51205794	51205794	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:51205794G>A	ENST00000293441.1	-	11	1695	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	SHANK1_ENST00000391814.1_Silent_p.F559F|SHANK1_ENST00000359082.3_Silent_p.F559F	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	559	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCACAGCCATGAAGGAGCGTC	0.701000													8	18					0	0	0.006214	0	0
NFASC	23114	broad.mit.edu	37	1	204923443	204923443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:204923443G>A	ENST00000367172.4	+	6	671	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	NFASC_ENST00000404076.1_Missense_Mutation_p.E109K|NFASC_ENST00000404907.1_Missense_Mutation_p.E109K|NFASC_ENST00000338515.6_Missense_Mutation_p.E115K|NFASC_ENST00000403080.1_Missense_Mutation_p.E115K|NFASC_ENST00000367171.4_Missense_Mutation_p.E115K|NFASC_ENST00000367169.4_Missense_Mutation_p.E115K|NFASC_ENST00000360049.4_Missense_Mutation_p.E109K|NFASC_ENST00000367170.4_Missense_Mutation_p.E115K|NFASC_ENST00000339876.6_Missense_Mutation_p.E115K|NFASC_ENST00000513543.1_Missense_Mutation_p.E109K|NFASC_ENST00000401399.1_Missense_Mutation_p.E115K|NFASC_ENST00000539706.1_Missense_Mutation_p.E109K|NFASC_ENST00000338586.6_Missense_Mutation_p.E115K			O94856	NFASC_HUMAN	neurofascin	115	Ig-like C2-type 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ATATGAGGGGGAATATCAGTG	0.607000													7	24					0	0	0.003080	0	0
OR1L6	392390	broad.mit.edu	37	9	125512364	125512364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:125512364C>T	ENST00000373684.1	+	1	346	c.346C>T	c.(346-348)Cct>Tct	p.P116S	OR1L6_ENST00000304720.2_Missense_Mutation_p.P80S			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						AGTCATAGTGCCTAAGATGCT	0.468000													23	37					0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179642167	179642167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179642167G>A	ENST00000589042.1	-	26	4849	c.4625C>T	c.(4624-4626)tCa>tTa	p.S1542L	TTN_ENST00000342992.6_Missense_Mutation_p.S1542L|TTN_ENST00000359218.5_Missense_Mutation_p.S1496L|TTN_ENST00000460472.2_Missense_Mutation_p.S1496L|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S1542L|TTN_ENST00000342175.6_Missense_Mutation_p.S1496L|TTN_ENST00000591111.1_Missense_Mutation_p.S1542L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1542	Ig-like 6.						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)			TAAAATCACTGAAATTGAAGA	0.383000													8	10					0	0	0.003080	0	0
GRIK4	2900	broad.mit.edu	37	11	120745931	120745931	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:120745931C>T	ENST00000527524.2	+	11	1430	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Silent_p.F381F			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	381					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TCTTACAGTTCACAAGGAATG	0.493000													11	21					0	0	0.000978	0	0
SERPINA9	327657	broad.mit.edu	37	14	94942575	94942575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:94942575C>T	ENST00000546329.1	-	1	95	c.17G>A	c.(16-18)gGg>gAg	p.G6E	SERPINA9_ENST00000539349.1_Intron|SERPINA9_ENST00000337425.5_5'UTR|SERPINA9_ENST00000424550.2_5'UTR			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	0					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		ctctcctctccctccagctga	0.438000													14	47					0	0	0.003163	0	0
RELN	5649	broad.mit.edu	37	7	103143606	103143606	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:103143606G>A	ENST00000428762.1	-	52	8505	c.8346C>T	c.(8344-8346)ttC>ttT	p.F2782F	RELN_ENST00000343529.5_Silent_p.F2782F|RELN_ENST00000424685.2_Silent_p.F2782F|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2782					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.F2782L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AACTCACACCGAAGTCAGTAG	0.408000													9	32					0	0	0.006214	0	0
LARP1B	55132	broad.mit.edu	37	4	129120688	129120688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:129120688G>A	ENST00000326639.6	+	16	2309	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	LARP1B_ENST00000354456.3_Missense_Mutation_p.E119K|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.E641K|LARP1B_ENST00000441387.1_Missense_Mutation_p.E700K	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	700							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TCCTTCTCATGAACTTTTGAA	0.408000													7	17					0	0	0.003080	0	0
TERT	7015	broad.mit.edu	37	5	1260658	1260658	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:1260658C>T	ENST00000310581.5	-	12	2958	c.2901G>A	c.(2899-2901)ggG>ggA	p.G967G	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Silent_p.G904G	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	967	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCATGTTCCTCCCAGCCTTGA	0.577000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				17	32					0	0	0.006122	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57088096	57088096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:57088096G>A	ENST00000532437.1	-	2	496	c.185C>T	c.(184-186)cCt>cTt	p.P62L	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P62L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	62	Arg/Glu/Lys/Pro-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGGCCCAACAGGCACCAGCAG	0.662000													13	24					0	0	0.003163	0	0
LOC494141	494141	broad.mit.edu	37	11	18231632	18231632	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:18231632G>A	ENST00000527059.1	+	1	878	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	RP11-113D6.10_ENST00000534640.1_Missense_Mutation_p.E140K|RP11-113D6.10_ENST00000340135.3_Missense_Mutation_p.E140K																							AGGGACAACGGAAGCAATTTT	0.458000													9	15					0	0	0.004482	0	0
AXDND1	126859	broad.mit.edu	37	1	179497464	179497464	+	Silent	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:179497464A>G	ENST00000367618.3	+	23	3000	c.2613A>G	c.(2611-2613)caA>caG	p.Q871Q		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	871	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGTTCTAGCAACCTTCAACAT	0.443000													5	15					0	0	0.000602	0	0
ADCY8	114	broad.mit.edu	37	8	132051923	132051923	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:132051923G>A	ENST00000286355.5	-	1	2749	c.657C>T	c.(655-657)ttC>ttT	p.F219F	ADCY8_ENST00000377928.3_Silent_p.F219F	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	219					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)			CAATGCCGGTGAAGAAGCCCA	0.622000										HNSCC(32;0.087)			16	25					0	0	0.004007	0	0
FSIP2	401024	broad.mit.edu	37	2	186670720	186670720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:186670720G>A	ENST00000343098.5	+	17	16954	c.16954G>A	c.(16954-16956)Gaa>Aaa	p.E5652K	FSIP2_ENST00000424728.1_Missense_Mutation_p.E5563K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TAATAATAATGAAATTGAGAA	0.269000													10	38					0	0	0.000978	0	0
STRA13	201254	broad.mit.edu	37	17	79980701	79980701	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:79980701C>T	ENST00000392359.3	-	1	93		c.e1+1		STRA13_ENST00000584347.1_Splice_Site|STRA13_ENST00000583767.1_5'UTR|STRA13_ENST00000306704.6_Splice_Site|STRA13_ENST00000580435.1_Splice_Site	NM_001271006.1	NP_001257935.1	A8MT69	CENPX_HUMAN	stimulated by retinoic acid 13						DNA repair	chromosome, centromeric region|Fanconi anaemia nuclear complex	DNA binding|protein binding					all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCGGCCCTCACCTTCCGGAAG	0.741000													5	3					0	0	0.001168	0	0
OR4C13	283092	broad.mit.edu	37	11	49974138	49974138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:49974138C>T	ENST00000555099.1	+	1	196	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCACTGAGATCCCCCATGTAC	0.428000													48	100					0	0	0.003610	0	0
OR4D9	390199	broad.mit.edu	37	11	59282701	59282701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:59282701C>T	ENST00000329328.3	+	1	316	c.316C>T	c.(316-318)Ctt>Ttt	p.L106F		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L106F(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CTTCTTCCACCTTCTGGGGGG	0.478000													19	48					0	0	0.007413	0	0
C6orf58	352999	broad.mit.edu	37	6	127912742	127912742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:127912742C>T	ENST00000329722.7	+	6	980	c.968C>T	c.(967-969)tCt>tTt	p.S323F		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	323						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		GAATCTAGCTCTAGAAGTTAT	0.269000													12	21					0	0	0.001368	0	0
RHD	6007	broad.mit.edu	37	1	25599183	25599183	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:25599183C>A	ENST00000328664.4	+	1	300	c.145C>A	c.(145-147)Caa>Aaa	p.Q49K	RHD_ENST00000423253.1_3'UTR|RHD_ENST00000417538.2_Missense_Mutation_p.Q49K|RHD_ENST00000454452.2_Missense_Mutation_p.Q49K|RHD_ENST00000357542.4_Missense_Mutation_p.Q49K|RHD_ENST00000423810.2_Missense_Mutation_p.Q49K|RHD_ENST00000568195.1_Missense_Mutation_p.Q49K|RHD_ENST00000342055.5_Missense_Mutation_p.Q49K	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN	Rh blood group, D antigen	49						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCATCCTATCAAGGTGAGAG	0.522000													41	33					2.69774e-35	2.78922e-35	0.003610	1	0
OTUD4	54726	broad.mit.edu	37	4	146076605	146076605	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:146076605G>A	ENST00000454497.2	-	10	773	c.636C>T	c.(634-636)tcC>tcT	p.S212S	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Silent_p.S277S	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	276							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CAGCAGCAATGGAATAATCAC	0.299000													6	30					0	0	0.001984	0	0
AKR1B10	57016	broad.mit.edu	37	7	134217804	134217804	+	Missense_Mutation	SNP	G	G	A	rs148486050		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:134217804G>A	ENST00000359579.4	+	4	720	c.400G>A	c.(400-402)Gga>Aga	p.G134R	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	134					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	p.G134R(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TGCCATCGGTGGAAAAGCAAC	0.453000													34	76					0	0	0.006999	0	0
FAT4	79633	broad.mit.edu	37	4	126411760	126411760	+	Missense_Mutation	SNP	G	G	A	rs148534921		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:126411760G>A	ENST00000394329.3	+	17	13796	c.13783G>A	c.(13783-13785)Gaa>Aaa	p.E4595K	FAT4_ENST00000335110.5_Missense_Mutation_p.E2836K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4595					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						TATCTATGATGAAACTGATAT	0.483000													20	42					0	0	0.010504	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40839962	40839962	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:40839962C>T	ENST00000264638.4	+	8	1486	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	423	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ACGTGTCCATCGCGCAGAGCG	0.617000													23	83					0	0	0.003954	0	0
OR4D2	124538	broad.mit.edu	37	17	56247560	56247560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:56247560C>T	ENST00000545221.1	+	1	544	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTGTGATGTTCCCCAAGTACT	0.537000													33	108					0	0	0.003271	0	0
BTBD9	114781	broad.mit.edu	37	6	38160328	38160328	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:38160328G>A	ENST00000481247.1	-	10	1759	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	BTBD9_ENST00000408958.1_Silent_p.I468I|BTBD9_ENST00000314100.6_Silent_p.I468I|BTBD9_ENST00000419706.2_Silent_p.I506I|BTBD9_ENST00000403056.1_Silent_p.I536I	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	536					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CAACGATACGGATGAAGGAGG	0.463000													12	48					0	0	0.003163	0	0
USP28	57646	broad.mit.edu	37	11	113700029	113700029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:113700029G>A	ENST00000003302.4	-	10	1017	c.949C>T	c.(949-951)Cct>Tct	p.P317S	USP28_ENST00000537706.1_Missense_Mutation_p.P317S|USP28_ENST00000544967.1_Missense_Mutation_p.P25S|USP28_ENST00000545540.1_Missense_Mutation_p.P192S|USP28_ENST00000260188.5_Missense_Mutation_p.P317S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	317					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACCTGAAGAGGATACTGGCCG	0.443000													19	25					0	0	0.008871	0	0
LOXL3	84695	broad.mit.edu	37	2	74763204	74763204	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:74763204C>G	ENST00000264094.3	-	7	1238	c.1167G>C	c.(1165-1167)aaG>aaC	p.K389N	LOXL3_ENST00000409986.1_Missense_Mutation_p.K244N|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000393937.2_Missense_Mutation_p.K244N|LOXL3_ENST00000409549.1_Missense_Mutation_p.K389N	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	389	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CTGTGATGTTCTTGTGGGGGC	0.567000													32	63					0	0	0.002445	0	0
ACOX2	8309	broad.mit.edu	37	3	58519835	58519835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:58519835C>T	ENST00000302819.5	-	4	652	c.361G>A	c.(361-363)Gtc>Atc	p.V121I	ACOX2_ENST00000459701.2_Missense_Mutation_p.V121I	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	121					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CTCACGAAGACTCTGTGTATA	0.537000													19	50					0	0	0.001882	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361650	105361650	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:105361650G>A	ENST00000297581.2	+	2	919	c.870G>A	c.(868-870)agG>agA	p.R290R	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	290					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CTAAAGAAAGGAAAAACCTGG	0.493000													24	56					0	0	0.003954	0	0
TTPA	7274	broad.mit.edu	37	8	63978529	63978529	+	Silent	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:63978529A>G	ENST00000260116.4	-	3	517	c.486T>C	c.(484-486)ggT>ggC	p.G162G	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	162	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	AAAACTGCCAACCTTCCAGAT	0.398000													6	16					0	0	0.001984	0	0
VN1R2	317701	broad.mit.edu	37	19	53762620	53762620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:53762620C>T	ENST00000341702.3	+	1	1076	c.992C>T	c.(991-993)tCc>tTc	p.S331F	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	331					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TACGCCCTTTCCTTCATCACC	0.448000													32	92					0	0	0.002096	0	0
PADI3	51702	broad.mit.edu	37	1	17601233	17601233	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:17601233G>A	ENST00000375460.3	+	11	1299	c.1259G>A	c.(1258-1260)gGg>gAg	p.G420E		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	420					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTGGCCAATGGGAAAGAGTAC	0.607000											OREG0013148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	24					0	0	0.006122	0	0
UBE2V2	7336	broad.mit.edu	37	8	48962468	48962468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:48962468C>T	ENST00000523111.2	+	3	276	c.221C>T	c.(220-222)cCa>cTa	p.P74L	UBE2V2_ENST00000517630.1_Missense_Mutation_p.P34L|UBE2V2_ENST00000521346.1_Missense_Mutation_p.P34L|UBE2V2_ENST00000520809.1_Missense_Mutation_p.P34L	NM_003350.2	NP_003341.1	Q15819	UB2V2_HUMAN	ubiquitin-conjugating enzyme E2 variant 2	74					cell proliferation|DNA double-strand break processing|protein polyubiquitination|regulation of DNA repair	cytoplasm|nucleus|UBC13-MMS2 complex	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)	3		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)				CCTAAATACCCAGAAGCTCCT	0.299000								Rad6 pathway					4	23					0	0	0.009096	0	0
OR5H1	26341	broad.mit.edu	37	3	97851821	97851821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:97851821C>T	ENST00000354565.2	+	1	280	c.280C>T	c.(280-282)Ctc>Ttc	p.L94F	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	94					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						GATGATATCTCTCTCTGAATG	0.398000													29	76					0	0	0.004878	0	0
OR51I1	390063	broad.mit.edu	37	11	5462528	5462528	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:5462528G>A	ENST00000380211.1	-	1	216	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	73					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)		GACACTCCCAGATCATTGAGA	0.463000													23	27					0	0	0.002299	0	0
P4HA3	283208	broad.mit.edu	37	11	73990439	73990439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:73990439C>T	ENST00000331597.4	-	8	1214	c.1169G>A	c.(1168-1170)aGc>aAc	p.S390N	P4HA3_ENST00000427714.2_Missense_Mutation_p.S390N	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	390						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TTACCTTTTGCTGATGCGGTA	0.537000													34	79					0	0	0.004878	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671283	112671283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:112671283G>A	ENST00000441065.2	+	3	685	c.373G>A	c.(373-375)Gat>Aat	p.D125N	RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	125	B30.2/SPRY.						zinc ion binding	p.D125Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GATCCACCACGATCTGACAAA	0.542000													9	49					0	0	0.000978	0	0
SNX33	257364	broad.mit.edu	37	15	75949417	75949417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:75949417C>T	ENST00000308527.5	+	2	2783	c.1586C>T	c.(1585-1587)gCc>gTc	p.A529V		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	529	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GCCCTGCAGGCCGAGATGAAC	0.627000													19	33					0	0	0.010504	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065005	55065005	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:55065005C>T	ENST00000526016.1	-	0	420					NR_038174.2																						CTGAGATTTTCACAAGCTTTT	0.398000													5	19					0	0	0.001984	0	0
MRO	83876	broad.mit.edu	37	18	48326495	48326495	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:48326495G>A	ENST00000428869.2	-	8	862	c.604C>T	c.(604-606)Caa>Taa	p.Q202*	MRO_ENST00000436348.2_Nonsense_Mutation_p.Q216*|MRO_ENST00000431965.2_Nonsense_Mutation_p.Q164*|MRO_ENST00000588444.1_Nonsense_Mutation_p.Q150*|MRO_ENST00000398439.3_Nonsense_Mutation_p.Q202*|MRO_ENST00000256425.2_Nonsense_Mutation_p.Q202*|MRO_ENST00000587291.1_5'UTR			Q9BYG7	MSTRO_HUMAN	maestro	202						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		GAACAGGCTTGAAATGTTGTT	0.393000													17	33					0	0	0.004007	0	0
CUBN	8029	broad.mit.edu	37	10	17083048	17083048	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:17083048G>T	ENST00000377833.4	-	27	4066	c.4001C>A	c.(4000-4002)tCc>tAc	p.S1334Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1334	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATAATCTGTGGAGCAGTTTAT	0.378000													13	43					2.61681e-11	2.6948e-11	0.002450	1	0
SCAF8	22828	broad.mit.edu	37	6	155141449	155141449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:155141449C>T	ENST00000367178.3	+	15	2350	c.1774C>T	c.(1774-1776)Cag>Tag	p.Q592*	SCAF8_ENST00000367186.4_Nonsense_Mutation_p.Q658*|SCAF8_ENST00000417268.1_Nonsense_Mutation_p.Q592*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	592					mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CATGATTGATCAGGAGACTGT	0.368000													12	31					0	0	0.001368	0	0
RFPL3	10738	broad.mit.edu	37	22	32756464	32756464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:32756464C>T	ENST00000249007.4	+	2	804	c.599C>T	c.(598-600)tCt>tTt	p.S200F	RFPL3_ENST00000397468.1_Missense_Mutation_p.S171F|RFPL3_ENST00000382088.3_Missense_Mutation_p.S171F|RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	200	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TGCAGAGAATCTGTTCACTGC	0.582000													21	52					0	0	0.008871	0	0
DNAH8	1769	broad.mit.edu	37	6	38805726	38805726	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:38805726C>T	ENST00000359357.3	+	31	3977	c.3723C>T	c.(3721-3723)ttC>ttT	p.F1241F	DNAH8_ENST00000441566.1_Silent_p.F1241F|DNAH8_ENST00000449981.2_Silent_p.F1458F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGCCAGTTTCGATGATCTGT	0.323000													9	20					0	0	0.004482	0	0
ATG9B	285973	broad.mit.edu	37	7	150718281	150718281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:150718281G>A	ENST00000444312.1	-	5	1032	c.170C>T	c.(169-171)tCc>tTc	p.S57F	ATG9B_ENST00000377974.2_Silent_p.I319I|ATG9B_ENST00000605952.1_Silent_p.I319I|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_Silent_p.I319I			Q674R7	ATG9B_HUMAN	autophagy related 9B	571	Pro-rich.				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCACCGGGGGGATGTGCAGGG	0.617000													25	62					0	0	0.007291	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092827	147092827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:147092827G>A	ENST00000361727.3	+	10	2141	c.1625G>A	c.(1624-1626)gGa>gAa	p.G542E		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	542	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGAAGCCGGGAAGTTTCGCG	0.438000										HNSCC(39;0.1)			17	47					0	0	0.007413	0	0
TTYH2	94015	broad.mit.edu	37	17	72248397	72248397	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:72248397A>T	ENST00000441391.2	+	5	1390	c.178A>T	c.(178-180)Atc>Ttc	p.I60F	TTYH2_ENST00000529107.1_Missense_Mutation_p.I360F|TTYH2_ENST00000269346.4_Missense_Mutation_p.I381F	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	381						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TCTTGCTGGCATCTGCTACGA	0.622000													43	48					0	0	0.003214	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858604	9858604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:9858604C>T	ENST00000396573.2	-	14	3106	c.2797G>A	c.(2797-2799)Gac>Aac	p.D933N	GRIN2A_ENST00000535259.1_Missense_Mutation_p.D776N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D933N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D933N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D933N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D933N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	933					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			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)	GAAACCATGTCCATGATGAGG	0.438000													36	69					0	0	0.004289	0	0
VPS13A	23230	broad.mit.edu	37	9	79936611	79936611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:79936611C>T	ENST00000360280.3	+	44	6039	c.5779C>T	c.(5779-5781)Cat>Tat	p.H1927Y	VPS13A_ENST00000376636.3_Missense_Mutation_p.H1888Y|VPS13A_ENST00000376634.4_Missense_Mutation_p.H1927Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.H1927Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1927					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGACAATGATCATTTCAATGC	0.328000													10	34					0	0	0.008291	0	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30791851	30791851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:30791851G>A	ENST00000458257.1	+	1	99	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	INMT_ENST00000484180.1_Intron|INMT_ENST00000013222.5_Missense_Mutation_p.G29S|INMT_ENST00000409539.1_Missense_Mutation_p.G29S																							CAGCTTCGATGGCAGCCCCTC	0.567000													27	65					0	0	0.004656	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983092	140983092	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:140983092C>A	ENST00000298296.1	+	5	947	c.947C>A	c.(946-948)tCc>tAc	p.S316Y	MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.S68Y|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	316	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GATGTGCTTTCCCGACTTGCA	0.597000													24	27					6.50621e-10	6.6824e-10	0.002836	1	0
CAMSAP1	157922	broad.mit.edu	37	9	138713205	138713205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:138713205G>A	ENST00000389532.4	-	11	3366	c.3302C>T	c.(3301-3303)tCc>tTc	p.S1101F	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.S1112F|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.S823F	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1101						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CGGCCTTCCGGAACGGGAATT	0.637000													14	43					0	0	0.001855	0	0
SCD5	79966	broad.mit.edu	37	4	83601897	83601897	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:83601897C>T	ENST00000319540.4	-	3	851	c.532G>A	c.(532-534)Gac>Aac	p.D178N	SCD5_ENST00000273908.4_Missense_Mutation_p.D178N	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	178					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GCAAGCAGGTCAGTGACGTCA	0.532000													18	39					0	0	0.006122	0	0
MEP1A	4224	broad.mit.edu	37	6	46794105	46794105	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:46794105C>T	ENST00000230588.4	+	9	802	c.793C>T	c.(793-795)Ctt>Ttt	p.L265F		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	265	MAM.				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)			AACTCACACTCTTTTGGACCA	0.418000													13	45					0	0	0.001855	0	0
NOBOX	135935	broad.mit.edu	37	7	144098513	144098513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:144098513C>T	ENST00000467773.1	-	4	469	c.470G>A	c.(469-471)aGa>aAa	p.R157K	NOBOX_ENST00000223140.5_Missense_Mutation_p.R72K|NOBOX_ENST00000483238.1_Missense_Mutation_p.R157K	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	157					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CGGGCACAGTCTCCCAGCATC	0.637000													14	33					0	0	0.002450	0	0
SACS	26278	broad.mit.edu	37	13	23904967	23904967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:23904967C>T	ENST00000382298.3	-	10	13636	c.13048G>A	c.(13048-13050)Gaa>Aaa	p.E4350K	SACS_ENST00000402364.1_Missense_Mutation_p.E3600K|SACS_ENST00000382292.3_Missense_Mutation_p.E4350K	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4350	J.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTAAAAACTTCATTGGCAATG	0.383000													23	36					0	0	0.002299	0	0
FAM50B	26240	broad.mit.edu	37	6	3850849	3850849	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:3850849C>T	ENST00000380274.1	+	1	1230	c.804C>T	c.(802-804)ttC>ttT	p.F268F	FAM50B_ENST00000380272.3_Silent_p.F268F			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	268						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TCTTCAGCTTCGATGTGCACG	0.607000													11	46					0	0	0.008291	0	0
CYP2C8	1558	broad.mit.edu	37	10	96829107	96829107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:96829107G>A	ENST00000371270.3	-	1	147	c.53C>T	c.(52-54)tCa>tTa	p.S18L	CYP2C8_ENST00000539050.1_5'UTR|CYP2C8_ENST00000535898.1_5'UTR	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	18					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TCTCCAGAGTGAAAAGAGAAG	0.458000													9	11					0	0	0.008291	0	0
BLVRA	644	broad.mit.edu	37	7	43832342	43832342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:43832342C>T	ENST00000402924.1	+	6	446	c.283C>T	c.(283-285)Ctt>Ttt	p.L95F	BLVRA_ENST00000265523.4_Missense_Mutation_p.L95F	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	95					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	CAAGCACGTCCTTGTGGAATA	0.468000													8	24					0	0	0.006214	0	0
STAB2	55576	broad.mit.edu	37	12	104102255	104102255	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:104102255C>T	ENST00000388887.2	+	39	4433	c.4229C>T	c.(4228-4230)cCc>cTc	p.P1410L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1410					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						AACCAAGGACCCTTGGGAGAT	0.458000													32	63					0	0	0.003271	0	0
ACKR2	1238	broad.mit.edu	37	3	42906687	42906687	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:42906687C>T	ENST00000422265.1	+	3	868	c.693C>T	c.(691-693)tcC>tcT	p.S231S	ACKR2_ENST00000442925.1_Silent_p.S231S|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000273145.2_Silent_p.S231S|ACKR2_ENST00000471537.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		TCTTCTACTCCCGTATTGGTT	0.557000													34	95					0	0	0.003755	0	0
DDX17	10521	broad.mit.edu	37	22	38902171	38902171	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:38902171C>T	ENST00000396821.3	-	1	171	c.72G>A	c.(70-72)gtG>gtA	p.V24V	DDX17_ENST00000381633.3_5'UTR|DDX17_ENST00000432525.1_Intron	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	0	Poly-Gly.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TCGCAGACGCCACCGTCGCCG	0.697000													4	6					0	0	0.009096	0	0
GALNT8	26290	broad.mit.edu	37	12	4870183	4870183	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:4870183G>A	ENST00000252318.2	+	7	1570	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	411	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCCACCTAGAGAGACACCACA	0.547000													19	33					0	0	0.008871	0	0
PTPRT	11122	broad.mit.edu	37	20	40733211	40733211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:40733211G>A	ENST00000373198.3	-	26	3839	c.3604C>T	c.(3604-3606)Cag>Tag	p.Q1202*	PTPRT_ENST00000356100.2_Nonsense_Mutation_p.Q1189*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.Q1170*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.Q1190*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.Q1183*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.Q1180*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.Q1179*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1180	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.Q1202K(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCTCATACCTGAAATTCATCT	0.443000													19	42					0	0	0.008871	0	0
GABRA1	2554	broad.mit.edu	37	5	161302643	161302643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:161302643G>A	ENST00000428797.2	+	7	909	c.554G>A	c.(553-555)gGa>gAa	p.G185E	GABRA1_ENST00000437025.2_Missense_Mutation_p.G185E|GABRA1_ENST00000444819.1_Missense_Mutation_p.G185E|GABRA1_ENST00000393943.4_Missense_Mutation_p.G185E|GABRA1_ENST00000023897.6_Missense_Mutation_p.G185E|GABRA1_ENST00000420560.1_Missense_Mutation_p.G185E	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	185					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTAAAATTTGGAAGTTGTGAG	0.393000													12	40					0	0	0.003163	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528560	65528560	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:65528560G>A	ENST00000310193.3	-	3	711	c.538C>T	c.(538-540)Ctg>Ttg	p.L180L		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	180					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AATGGATACAGTTCTGCCGTG	0.353000													14	24					0	0	0.003163	0	0
CDCP1	64866	broad.mit.edu	37	3	45127293	45127293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:45127293G>A	ENST00000296129.1	-	9	2482	c.2348C>T	c.(2347-2349)gCc>gTc	p.A783V		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	783						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TGCAGTTGGGGCCCTGGAGCA	0.622000													14	42					0	0	0.002450	0	0
ACSM1	116285	broad.mit.edu	37	16	20673121	20673121	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:20673121G>A	ENST00000307493.4	-	6	1054	c.987C>T	c.(985-987)ttC>ttT	p.F329F	ACSM1_ENST00000520010.1_Silent_p.F329F|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	329					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CATACCTGGTGAAATCCTGCT	0.388000													8	21					0	0	0.008291	0	0
STAC	6769	broad.mit.edu	37	3	36484998	36484998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:36484998C>T	ENST00000273183.3	+	2	554	c.254C>T	c.(253-255)cCa>cTa	p.P85L	STAC_ENST00000457375.2_Missense_Mutation_p.P85L|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	85					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AGCTCCAGCCCACTCCCTGCT	0.562000													20	42					0	0	0.008871	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116064521	116064521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:116064521G>A	ENST00000369271.3	-	11	1541	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F	AFAP1L2_ENST00000304129.4_Missense_Mutation_p.S414F|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.S467F	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	414	PH 2.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GATGCGGAAGGAGTAGAGGTG	0.682000													3	14					0	0	0.004672	0	0
OR2M5	127059	broad.mit.edu	37	1	248308892	248308892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:248308892C>T	ENST00000366476.1	+	1	443	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			ACTGCCTTCTCCTGGATCCTG	0.458000													40	137					0	0	0.006230	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517495	158517495	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:158517495G>C	ENST00000302617.3	-	1	400	c.401C>G	c.(400-402)cCa>cGa	p.P134R		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTAGCGTAGTGGATTACAAAT	0.468000													10	22					0	0	0.008291	0	0
CASR	846	broad.mit.edu	37	3	121980978	121980978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:121980978G>A	ENST00000498619.1	+	4	1534	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R	CASR_ENST00000490131.1_Missense_Mutation_p.G366R|CASR_ENST00000296154.5_Missense_Mutation_p.G366R	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	366					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGGTGCAAAAGGACCTTTACC	0.498000													6	29					0	0	0.003080	0	0
MIR382	494331	broad.mit.edu	37	14	101520714	101520714	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:101520714C>T	ENST00000385009.2	-	0	9					NR_029874.1																						ACACTTTTTTCAGTACCAAAT	0.433000													3	9					0	0	0.004672	0	0
SCN2A	6326	broad.mit.edu	37	2	166245738	166245738	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:166245738G>A	ENST00000375437.2	+	27	5712	c.5422G>A	c.(5422-5424)Gat>Aat	p.D1808N	SCN2A_ENST00000375427.2_Missense_Mutation_p.D1808N|SCN2A_ENST00000283256.6_Missense_Mutation_p.D1808N|SCN2A_ENST00000357398.3_Missense_Mutation_p.D1808N	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1808					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)	GTTTGATCCCGATGCGACCCA	0.458000													25	48					0	0	0.004656	0	0
MCAM	4162	broad.mit.edu	37	11	119182038	119182038	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:119182038C>A	ENST00000392814.1	-	7	2077	c.1348G>T	c.(1348-1350)Gcc>Tcc	p.A450S	MCAM_ENST00000264036.4_Missense_Mutation_p.A501S			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	501	Ig-like C2-type 3.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TCGTTGGAGGCCGTGCATTCA	0.617000													8	23					1.12685e-05	1.15356e-05	0.004482	1	0
CDCA2	157313	broad.mit.edu	37	8	25343351	25343351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:25343351C>T	ENST00000330560.3	+	11	1919	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.S466L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	481					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GAGACCCTTTCAGGTAGTAAC	0.279000													8	18					0	0	0.004482	0	0
UNC13C	440279	broad.mit.edu	37	15	54305959	54305959	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:54305959G>A	ENST00000545554.1	+	1	859	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	UNC13C_ENST00000260323.11_Missense_Mutation_p.E287K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E287K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	287					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTACAAAGTGAAATTGAGCA	0.458000													30	35					0	0	0.009535	0	0
CSMD1	64478	broad.mit.edu	37	8	3200886	3200886	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:3200886G>A	ENST00000520002.1	-	24	4119	c.3564C>T	c.(3562-3564)tcC>tcT	p.S1188S	CSMD1_ENST00000539096.1_Silent_p.S1187S|CSMD1_ENST00000537824.1_Silent_p.S1187S|CSMD1_ENST00000602723.1_Silent_p.S1188S|CSMD1_ENST00000602557.1_Silent_p.S1188S|CSMD1_ENST00000400186.3_Silent_p.S1188S|CSMD1_ENST00000542608.1_Silent_p.S1187S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1188	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAGGTGATTGGATGTGCTGT	0.428000													15	29					0	0	0.003163	0	0
FPR3	2359	broad.mit.edu	37	19	52327323	52327323	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:52327323A>G	ENST00000339223.4	+	2	501	c.322A>G	c.(322-324)Aac>Gac	p.N108D	FPR3_ENST00000595991.1_Missense_Mutation_p.N108D	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	108					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GATAGACATCAACCTGTTTGT	0.478000													14	24					0	0	0.001855	0	0
OPRK1	4986	broad.mit.edu	37	8	54142134	54142134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:54142134G>A	ENST00000265572.3	-	4	1163	c.866C>T	c.(865-867)cCc>cTc	p.P289L	OPRK1_ENST00000520287.1_Missense_Mutation_p.P289L|OPRK1_ENST00000524278.1_Missense_Mutation_p.P200L|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	289					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TATGTGAATGGGAGTCCAGCA	0.567000													8	19					0	0	0.004482	0	0
CABS1	85438	broad.mit.edu	37	4	71201035	71201035	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:71201035G>A	ENST00000273936.4	+	1	338	c.279G>A	c.(277-279)caG>caA	p.Q93Q		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	93						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTCACCTACAGAAAGAAATTA	0.373000													18	24					0	0	0.008871	0	0
IL2RB	3560	broad.mit.edu	37	22	37524807	37524807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:37524807C>T	ENST00000216223.5	-	10	1183	c.985G>A	c.(985-987)Gag>Aag	p.E329K		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	329					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TTGTCCCTCTCCAGCACTTCT	0.612000													21	31					0	0	0.002299	0	0
DZIP1	22873	broad.mit.edu	37	13	96274644	96274644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:96274644G>A	ENST00000347108.3	-	7	1495	c.1063C>T	c.(1063-1065)Cca>Tca	p.P355S	DZIP1_ENST00000361156.3_Missense_Mutation_p.P355S|DZIP1_ENST00000376829.2_Missense_Mutation_p.P355S|DZIP1_ENST00000361396.2_Missense_Mutation_p.P355S			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	355					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TGGGGATATGGAGAACGGTCT	0.423000													15	34					0	0	0.003163	0	0
CIT	11113	broad.mit.edu	37	12	120196473	120196473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:120196473G>A	ENST00000392521.2	-	21	2508	c.2453C>T	c.(2452-2454)tCc>tTc	p.S818F	CIT_ENST00000261833.7_Missense_Mutation_p.S776F|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	776					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGTTCCAGGGATCTGATCTT	0.448000													23	67					0	0	0.005443	0	0
SERPINB11	89778	broad.mit.edu	37	18	61377503	61377503	+	RNA	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:61377503G>A	ENST00000544088.1	+	0	138				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CAACATAGGAGATAACATCTT	0.448000													6	18					0	0	0.001984	0	0
ZHX1	11244	broad.mit.edu	37	8	124267362	124267362	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:124267362C>T	ENST00000395571.3	-	3	1442	c.825G>A	c.(823-825)ttG>ttA	p.L275L	ZHX1_ENST00000522655.1_Silent_p.L275L|ZHX1_ENST00000297857.2_Silent_p.L275L|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	275	Required for dimerization.|Required for interaction with NFYA.				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)			CTTTGGGAATCAAATTAGAAT	0.438000													38	56					0	0	0.004878	0	0
LILRB1	10859	broad.mit.edu	37	19	55143633	55143633	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:55143633G>A	ENST00000396331.1	+	6	963	c.606G>A	c.(604-606)tcG>tcA	p.S202S	LILRB1_ENST00000396321.2_Silent_p.S202S|LILRB1_ENST00000448689.1_Silent_p.S202S|LILRB1_ENST00000324602.7_Silent_p.S202S|LILRB1_ENST00000396327.3_Silent_p.S202S|LILRB1_ENST00000396332.4_Silent_p.S202S|LILRB1_ENST00000427581.2_Silent_p.S238S|LILRB1_ENST00000434867.2_Silent_p.S202S|LILRB1_ENST00000418536.2_Silent_p.S202S|LILRB1_ENST00000396315.1_Silent_p.S202S|LILRB1_ENST00000396317.1_Silent_p.S202S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	202	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTTATGACTCGAACTCTCCCT	0.602000										HNSCC(37;0.09)			27	69					0	0	0.008361	0	0
MS4A2	2206	broad.mit.edu	37	11	59861027	59861027	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:59861027C>T	ENST00000278888.3	+	5	635	c.533C>T	c.(532-534)tCc>tTc	p.S178F		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	178					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GCTTCCTTTTCCACTGTATGT	0.408000													12	34					0	0	0.001368	0	0
SYNGR1	9145	broad.mit.edu	37	22	39777762	39777762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:39777762C>T	ENST00000328933.5	+	4	560	c.545C>T	c.(544-546)tCc>tTc	p.S182F		NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					GCCCTCTTCTCCCAGGACTAC	0.687000													18	43					0	0	0.001882	0	0
DNAH2	146754	broad.mit.edu	37	17	7680855	7680855	+	Missense_Mutation	SNP	T	T	C	rs147602777	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:7680855T>C	ENST00000572933.1	+	33	6610	c.5150T>C	c.(5149-5151)aTt>aCt	p.I1717T	DNAH2_ENST00000389173.2_Missense_Mutation_p.I1717T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1717	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACGATAGAAATTCATGCCCGG	0.478000													106	228					0	0	0.003610	0	0
ZNF799	90576	broad.mit.edu	37	19	12502346	12502346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:12502346G>A	ENST00000419318.1	-	4	1519	c.770C>T	c.(769-771)gCc>gTc	p.A257V	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.A289V			Q96GE5	ZN799_HUMAN	zinc finger protein 799	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AGCACTGAAGGCTTTCCCACA	0.428000													23	53					0	0	0.001882	0	0
MLIP	90523	broad.mit.edu	37	6	54025203	54025203	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:54025203G>A	ENST00000514921.1	+	6	2408	c.2295G>A	c.(2293-2295)aaG>aaA	p.K765K	MLIP_ENST00000509997.1_Intron|MLIP_ENST00000274897.5_Silent_p.K241K|MLIP_ENST00000502396.1_Silent_p.K776K|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370877.2_Silent_p.K165K			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	241						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GTGTCTCCAAGGACAACACAT	0.403000													5	11					0	0	0.000602	0	0
DCT	1638	broad.mit.edu	37	13	95092305	95092305	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:95092305C>T	ENST00000377028.5	-	8	1820	c.1407G>A	c.(1405-1407)tgG>tgA	p.W469*	DCT_ENST00000446125.1_Nonsense_Mutation_p.W502*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	469					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GAGTTGTGGGCCAACCTGGAG	0.408000													8	19					0	0	0.006214	0	0
PIEZO2	63895	broad.mit.edu	37	18	10675266	10675266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:10675266G>A	ENST00000302079.6	-	49	7572	c.7573C>T	c.(7573-7575)Cca>Tca	p.P2525S	PIEZO2_ENST00000580640.1_Missense_Mutation_p.P2613S|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000285141.4_Missense_Mutation_p.P380S|PIEZO2_ENST00000503781.3_Missense_Mutation_p.P2588S|PIEZO2_ENST00000538948.1_Missense_Mutation_p.P545S			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2588						integral to membrane	ion channel activity										ACATAATATGGATAAATCTTT	0.274000													22	40					0	0	0.003330	0	0
ABR	29	broad.mit.edu	37	17	1012282	1012282	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:1012282G>A	ENST00000291107.2	-	1	58	c.27C>T	c.(25-27)ggC>ggT	p.G9G	ABR_ENST00000544583.2_Intron|ABR_ENST00000574437.1_Intron|ABR_ENST00000302538.5_Intron	NM_001092.4	NP_001083.2	Q12979	ABR_HUMAN	active BCR-related	0					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TGTCCAGCAAGCCTATCGCCT	0.682000													5	8					0	0	0.001168	0	0
OR11H12	440153	broad.mit.edu	37	14	19377829	19377829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:19377829G>A	ENST00000550708.1	+	1	308	c.236G>A	c.(235-237)gGa>gAa	p.G79E		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGTTCCTGGGAAATTTCTCC	0.413000													24	43					0	0	0.008361	0	0
EMB	133418	broad.mit.edu	37	5	49701641	49701641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:49701641C>T	ENST00000303221.5	-	5	733	c.518G>A	c.(517-519)gGg>gAg	p.G173E	EMB_ENST00000514111.1_Missense_Mutation_p.G123E|EMB_ENST00000508934.1_Missense_Mutation_p.G119E|EMB_ENST00000506190.1_5'UTR	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	173	Ig-like V-type 2.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				AGTAGAATCCCCTACGTAAGA	0.353000													13	22					0	0	0.001855	0	0
OR5H6	79295	broad.mit.edu	37	3	97983363	97983363	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:97983363C>T	ENST00000383696.2	+	1	276	c.235C>T	c.(235-237)Ctt>Ttt	p.L79F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTACTTATTCCTTGGGAGTTT	0.413000													41	66					0	0	0.008740	0	0
MPC2	25874	broad.mit.edu	37	1	167889227	167889227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:167889227G>A	ENST00000367846.4	-	4	535	c.337C>T	c.(337-339)Cgt>Tgt	p.R113C	MPC2_ENST00000271373.4_Missense_Mutation_p.R113C	NM_015415.3	NP_056230.1			mitochondrial pyruvate carrier 2																		CTCCAAATACGAAAAAGCTGA	0.378000													13	38					0	0	0.002450	0	0
PTDSS1	9791	broad.mit.edu	37	8	97332525	97332525	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:97332525C>T	ENST00000517309.1	+	10	1451	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	PTDSS1_ENST00000522072.1_Silent_p.L172L|PTDSS1_ENST00000455950.2_Silent_p.L229L	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	375					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GACAAGATCTCTTCTCTAAGA	0.398000													20	74					0	0	0.008871	0	0
ACOX3	8310	broad.mit.edu	37	4	8375329	8375329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:8375329C>T	ENST00000356406.5	-	16	1932	c.1855G>A	c.(1855-1857)Gga>Aga	p.G619R	ACOX3_ENST00000515797.1_5'UTR|ACOX3_ENST00000413009.2_Intron|ACOX3_ENST00000503233.1_Missense_Mutation_p.G619R	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	619					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AACACTTCTCCCGCCTGCTCA	0.597000													4	11					0	0	0.000602	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503114	140503114	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140503114C>T	ENST00000194152.1	+	1	1534	c.1534C>T	c.(1534-1536)Ctg>Ttg	p.L512L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		512	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			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)			CAACGGCCACCTGTTCGCCCT	0.692000													22	87					0	0	0.003271	0	0
SOGA3	387104	broad.mit.edu	37	6	127796711	127796711	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:127796711C>T	ENST00000556132.1	-	6	3324	c.2460G>A	c.(2458-2460)tcG>tcA	p.S820S	SOGA3_ENST00000465909.2_Silent_p.S820S|SOGA3_ENST00000368268.2_Silent_p.S820S|SOGA3_ENST00000481848.2_Silent_p.S820S|SOGA3_ENST00000525778.1_Silent_p.S820S|SOGA3_ENST00000474293.2_5'UTR	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	820						integral to membrane											GCTCGGCCTCCGAGCGGATGT	0.672000													33	107					0	0	0.003755	0	0
MAD1L1	8379	broad.mit.edu	37	7	2260644	2260644	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:2260644T>A	ENST00000402746.1	-	3	267	c.70A>T	c.(70-72)Acg>Tcg	p.T24S	MAD1L1_ENST00000399654.2_Intron|MAD1L1_ENST00000265854.7_Intron|MAD1L1_ENST00000406869.1_Intron			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	0					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GTAAGGAGCGTGACAATCAGG	0.607000													9	16					0	0	0.006214	0	0
SAMD9	54809	broad.mit.edu	37	7	92735076	92735076	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:92735076T>C	ENST00000379958.2	-	3	604	c.335A>G	c.(334-336)cAa>cGa	p.Q112R		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	112						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTTGTTTTTGCTTTGAAGT	0.383000													5	75					0	0	0.000602	0	0
HKR1	284459	broad.mit.edu	37	19	37853799	37853799	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:37853799C>T	ENST00000591471.1	+	9	1924	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	HKR1_ENST00000589392.1_Silent_p.L350L|HKR1_ENST00000392153.3_Silent_p.L349L|HKR1_ENST00000324411.4_Silent_p.L368L|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Silent_p.L307L|HKR1_ENST00000544914.1_Silent_p.L95L			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	368	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGCTTTAGCCTGAAGTCAAA	0.532000													15	41					0	0	0.002450	0	0
WNT8A	7478	broad.mit.edu	37	5	137426367	137426367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:137426367G>A	ENST00000506684.1	+	5	951	c.715G>A	c.(715-717)Gat>Aat	p.D239N	WNT8A_ENST00000398754.1_Missense_Mutation_p.D221N			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	221					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AATTGAAATGGATAAGCGGCA	0.567000													6	20					0	0	0.001168	0	0
NPAP1	23742	broad.mit.edu	37	15	24921643	24921643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:24921643G>A	ENST00000329468.2	+	1	1103	c.629G>A	c.(628-630)gGa>gAa	p.G210E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTCTGGAGGGAAATGTCTAC	0.612000													7	32					0	0	0.003080	0	0
CACNA1A	773	broad.mit.edu	37	19	13365981	13365981	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:13365981G>A	ENST00000360228.5	-	29	4682	c.4683C>T	c.(4681-4683)ttC>ttT	p.F1561F	CACNA1A_ENST00000573710.2_Silent_p.F1562F	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1562					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.F1562F(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GAGACACCACGAACTGCCACA	0.587000													15	24					0	0	0.004007	0	0
MUSK	4593	broad.mit.edu	37	9	113496631	113496631	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:113496631C>T	ENST00000416899.2	+	6	855	c.729C>T	c.(727-729)atC>atT	p.I243I	MUSK_ENST00000189978.5_Silent_p.I243I|MUSK_ENST00000374448.4_Silent_p.I243I			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	243	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCCCCACCATCACCTGGATTG	0.507000													27	49					0	0	0.008361	0	0
SEC62	7095	broad.mit.edu	37	3	169710486	169710486	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:169710486A>G	ENST00000337002.4	+	8	893	c.835A>G	c.(835-837)Agg>Ggg	p.R279G	SEC62_ENST00000470355.1_3'UTR|SEC62_ENST00000480708.1_Missense_Mutation_p.R279G	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	279					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						TGACTCCTTCAGGCCTCTGTA	0.423000													22	49					0	0	0.003330	0	0
OR8D4	338662	broad.mit.edu	37	11	123778024	123778024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:123778024G>A	ENST00000321355.2	+	1	916	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GAGGAACAATGAAGTAAGAAA	0.323000													11	21					0	0	0.001368	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242503	87242503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:87242503C>T	ENST00000297524.3	-	1	107	c.4G>A	c.(4-6)Gat>Aat	p.D2N	SLC7A13_ENST00000419776.2_Missense_Mutation_p.D2N|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	2						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TCCCCTCTATCCATTGTAATT	0.343000													13	24					0	0	0.003163	0	0
CPXM2	119587	broad.mit.edu	37	10	125530537	125530537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:125530537C>T	ENST00000241305.3	-	8	1151	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	333					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)		GGACACATTTCATTCACAACT	0.433000													55	71					0	0	0.003610	0	0
NNMT	4837	broad.mit.edu	37	11	114182969	114182969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:114182969C>T	ENST00000535401.1	+	5	829	c.565C>T	c.(565-567)Cca>Tca	p.P189S	NNMT_ENST00000545255.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000299964.3_Missense_Mutation_p.P189S			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	189					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CCTACTGAAGCCAGGGGGCTT	0.627000													13	45					0	0	0.002450	0	0
SLC24A2	25769	broad.mit.edu	37	9	19576974	19576974	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:19576974C>T	ENST00000341998.2	-	5	1237	c.1176G>A	c.(1174-1176)aaG>aaA	p.K392K	SLC24A2_ENST00000286344.3_Silent_p.K375K	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	392					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CATGACATTTCTTCTTGGCGA	0.507000													26	41					0	0	0.002096	0	0
DPPA2	151871	broad.mit.edu	37	3	109026926	109026926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:109026926G>A	ENST00000478945.1	-	6	857	c.611C>T	c.(610-612)tCa>tTa	p.S204L		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	204						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATGGAACATGAATTCAAAGC	0.453000													5	39					0	0	0.000602	0	0
CDH7	1005	broad.mit.edu	37	18	63477090	63477090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:63477090C>T	ENST00000536984.2	+	3	1055	c.361C>T	c.(361-363)Cga>Tga	p.R121*	CDH7_ENST00000397968.2_Nonsense_Mutation_p.R121*|CDH7_ENST00000323011.3_Nonsense_Mutation_p.R121*			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	121	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R121*(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CTACACGCTCCGAGCTCAAGC	0.488000													12	38					0	0	0.001368	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184698	72184698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:72184698G>A	ENST00000537465.1	-	5	603	c.445C>T	c.(445-447)Cac>Tac	p.H149Y	PMFBP1_ENST00000237353.10_Missense_Mutation_p.H149Y|PMFBP1_ENST00000355636.6_Missense_Mutation_p.H4Y			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	149										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)				TTCTCGTTGTGATTTCCCATT	0.502000													19	230					0	0	0.003954	0	0
KIF24	347240	broad.mit.edu	37	9	34306349	34306349	+	Silent	SNP	T	T	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:34306349T>C	ENST00000379166.2	-	3	833	c.714A>G	c.(712-714)gtA>gtG	p.V238V	KIF24_ENST00000345050.2_Silent_p.V238V|KIF24_ENST00000402558.2_Silent_p.V238V|KIF24_ENST00000379174.3_Silent_p.V238V	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	238	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CTCCACGACGTACCTCCCTCA	0.408000													50	138					0	0	0.003610	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51629369	51629369	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:51629369C>T	ENST00000440804.3	+	3	799	c.732C>T	c.(730-732)ttC>ttT	p.F244F	SIGLEC9_ENST00000250360.3_Silent_p.F244F	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	244	Ig-like C2-type 2.				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)		TGACTGTCTTCCAAGGAGACG	0.607000													11	31					0	0	0.001855	0	0
ARMC4	55130	broad.mit.edu	37	10	28284008	28284008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:28284008C>T	ENST00000305242.5	-	2	156	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	22							binding	p.E22K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGGGTGATTTCGAGGATTCCA	0.453000													10	28					0	0	0.001368	0	0
RPS11	6205	broad.mit.edu	37	19	50000830	50000830	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:50000830C>T	ENST00000270625.2	+	3	284	c.201C>T	c.(199-201)tcC>tcT	p.S67S	RPS11_ENST00000599561.1_Intron|RPS11_ENST00000596873.1_Silent_p.S67S|RPS11_ENST00000594493.1_5'UTR	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	67					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		GTAATGTGTCCATTCGAGGGC	0.542000													13	41					0	0	0.001855	0	0
GPR55	9290	broad.mit.edu	37	2	231775585	231775585	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:231775585G>A	ENST00000392040.1	-	2	285	c.93C>T	c.(91-93)ttC>ttT	p.F31F	GPR55_ENST00000392039.2_Silent_p.F31F	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	31					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GGCCCAGGACGAAGGTGGGGA	0.532000													20	35					0	0	0.010504	0	0
ADAM11	4185	broad.mit.edu	37	17	42848992	42848992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:42848992G>A	ENST00000200557.6	+	5	591	c.422G>A	c.(421-423)gGg>gAg	p.G141E	ADAM11_ENST00000535346.1_5'UTR	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	141					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)				AAGCTCCGGGGGAACCCGCAC	0.687000													27	84					0	0	0.002096	0	0
ANO9	338440	broad.mit.edu	37	11	420587	420587	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:420587G>A	ENST00000332826.6	-	19	1746	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	554						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						AGGCGGCCACGAAGATGGTGG	0.692000													6	13					0	0	0.001984	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37734739	37734739	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:37734739G>A	ENST00000330843.4	-	2	714	c.702C>T	c.(700-702)tcC>tcT	p.S234S	RAB11FIP1_ENST00000287263.4_Silent_p.S234S|RAB11FIP1_ENST00000522727.1_Silent_p.S86S|RAB11FIP1_ENST00000524118.1_Silent_p.S86S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	234					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GGACAGACATGGACTGGGAAA	0.453000													23	45					0	0	0.004656	0	0
ARMC4	55130	broad.mit.edu	37	10	28272855	28272855	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:28272855C>T	ENST00000305242.5	-	6	828	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	ARMC4_ENST00000239715.3_Missense_Mutation_p.E103K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	246							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TAACAAATTTCCCCACGAATT	0.393000													12	20					0	0	0.001368	0	0
CFHR5	81494	broad.mit.edu	37	1	196977674	196977674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:196977674G>A	ENST00000367414.5	+	10	1699	c.1643G>A	c.(1642-1644)aGa>aAa	p.R548K	CFHR5_ENST00000256785.4_Missense_Mutation_p.R524K	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	524	Sushi 9.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTAAAATGGAGAAACGATGGA	0.323000													13	18					0	0	0.001368	0	0
COPG1	22820	broad.mit.edu	37	3	128976410	128976410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:128976410C>T	ENST00000314797.6	+	9	781	c.677C>T	c.(676-678)cCc>cTc	p.P226L		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	226					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										CTTAAGTCTCCCTTTGCCTAC	0.542000													47	102					0	0	0.003610	0	0
NF1	4763	broad.mit.edu	37	17	29559743	29559743	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:29559743T>A	ENST00000358273.4	+	26	3723	c.3340T>A	c.(3340-3342)Ttg>Atg	p.L1114M	NF1_ENST00000356175.3_Missense_Mutation_p.L1114M	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1114					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TATGAACCTTTTGAATGACTG	0.433000			"""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)			6	11					0	0	0.001168	0	0
KIF1A	547	broad.mit.edu	37	2	241682373	241682373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:241682373G>A	ENST00000498729.2	-	34	3859	c.3613C>T	c.(3613-3615)Cct>Tct	p.P1205S	KIF1A_ENST00000320389.7_Missense_Mutation_p.P1104S	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1104					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ATGACCCGAGGGAAGTGGCGG	0.662000													4	10					0	0	0.009096	0	0
A1CF	29974	broad.mit.edu	37	10	52601719	52601719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:52601719C>T	ENST00000395489.2	-	7	643	c.247G>A	c.(247-249)Gat>Aat	p.D83N	A1CF_ENST00000373997.3_Missense_Mutation_p.D90N|A1CF_ENST00000395495.1_Missense_Mutation_p.D90N|A1CF_ENST00000282641.2_Missense_Mutation_p.D90N|A1CF_ENST00000373995.3_Missense_Mutation_p.D98N|A1CF_ENST00000373993.1_Missense_Mutation_p.D90N|A1CF_ENST00000374001.1_Missense_Mutation_p.D90N	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	90	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCATTAAAATCCATCATCATT	0.289000													7	20					0	0	0.001984	0	0
KIF17	57576	broad.mit.edu	37	1	21014262	21014262	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:21014262G>A	ENST00000247986.2	-	8	1867	c.1557C>T	c.(1555-1557)tcC>tcT	p.S519S	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Silent_p.S419S|KIF17_ENST00000400463.3_Silent_p.S519S			Q9P2E2	KIF17_HUMAN	kinesin family member 17	519					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCGCAAACCTGGAGGAAACCT	0.542000													18	45					0	0	0.007413	0	0
SCN10A	6336	broad.mit.edu	37	3	38751002	38751002	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:38751002G>A	ENST00000449082.2	-	24	4247	c.4248C>T	c.(4246-4248)gtC>gtT	p.V1416V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1416					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)	TGTCAATTATGACCCCAACAA	0.408000													8	31					0	0	0.004482	0	0
KRTAP12-1	353332	broad.mit.edu	37	21	46101760	46101760	+	Silent	SNP	A	A	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:46101760A>T	ENST00000391617.1	-	1	318	c.279T>A	c.(277-279)ccT>ccA	p.P93P	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	93	14 X 5 AA approximate repeats.					keratin filament				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						AGCAGCAGGAAGGGGTGCTGC	0.622000													9	40					0	0	0.004482	0	0
DNAH8	1769	broad.mit.edu	37	6	38862567	38862567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:38862567G>A	ENST00000359357.3	+	57	8277	c.8023G>A	c.(8023-8025)Gct>Act	p.A2675T	DNAH8_ENST00000441566.1_Missense_Mutation_p.A2639T|DNAH8_ENST00000449981.2_Missense_Mutation_p.A2892T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GACCATAAAAGCTGAGGAGTG	0.438000													9	16					0	0	0.006214	0	0
TUSC3	7991	broad.mit.edu	37	8	15480671	15480671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:15480671G>A	ENST00000382020.4	+	2	429	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	TUSC3_ENST00000503731.1_Missense_Mutation_p.R74Q|TUSC3_ENST00000506802.1_Missense_Mutation_p.R74Q|TUSC3_ENST00000509380.1_Missense_Mutation_p.R74Q|TUSC3_ENST00000503191.1_3'UTR	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	74					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.R74L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GATAAATTCCGAAAATTTATA	0.398000													6	22					0	0	0.001168	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117779493	117779493	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:117779493C>T	ENST00000528626.1	-	8	1084	c.1011G>A	c.(1009-1011)cgG>cgA	p.R337R	TMPRSS13_ENST00000526090.1_Silent_p.R372R|TMPRSS13_ENST00000524993.1_Silent_p.R372R|TMPRSS13_ENST00000445164.2_Silent_p.R372R|TMPRSS13_ENST00000430170.2_Silent_p.R372R	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	367	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GGACCTTCTCCCGGGTCCTGC	0.607000													7	13					0	0	0.003080	0	0
CAPSL	133690	broad.mit.edu	37	5	35909988	35909988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:35909988G>A	ENST00000397367.2	-	4	631	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S	CAPSL_ENST00000397366.1_Missense_Mutation_p.P169S|CAPSL_ENST00000514524.1_Missense_Mutation_p.P169S	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	169	EF-hand 4.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TTGTCATAGGGTGAATCAAAG	0.358000													17	61					0	0	0.006122	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377421	125377421	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:125377421C>T	ENST00000297913.2	+	1	474	c.405C>T	c.(403-405)atC>atT	p.I135I	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						ACACTATGATCCTGACTAGAA	0.473000													18	54					0	0	0.006122	0	0
SLC30A8	169026	broad.mit.edu	37	8	118174023	118174023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:118174023G>A	ENST00000427715.2	+	8	906	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	SLC30A8_ENST00000456015.2_Missense_Mutation_p.E207K|SLC30A8_ENST00000521243.1_Missense_Mutation_p.E158K|SLC30A8_ENST00000519688.1_Missense_Mutation_p.E158K	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	207					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CAATCACAAGGAAGTACAAGC	0.428000													80	195					0	0	0.003610	0	0
RGS22	26166	broad.mit.edu	37	8	101076099	101076099	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:101076099C>T	ENST00000360863.6	-	8	1091	c.897G>A	c.(895-897)caG>caA	p.Q299Q	RGS22_ENST00000523287.1_Silent_p.Q118Q|RGS22_ENST00000523437.1_Silent_p.Q287Q	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	299					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CATCAACATCCTGTTTCTTTT	0.363000													25	49					0	0	0.006320	0	0
CCDC81	60494	broad.mit.edu	37	11	86126160	86126160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:86126160C>T	ENST00000278487.3	+	12	1780	c.701C>T	c.(700-702)cCc>cTc	p.P234L	CCDC81_ENST00000528728.1_Missense_Mutation_p.P234L|CCDC81_ENST00000354755.1_Missense_Mutation_p.P409L|CCDC81_ENST00000445632.2_Missense_Mutation_p.P499L			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	499										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TCTCGGCTGCCCCCCTTTGAG	0.438000													19	41					0	0	0.002780	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480243	140480243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140480243G>A	ENST00000231130.2	+	1	10	c.10G>A	c.(10-12)Gga>Aga	p.G4R	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		4					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGGAGGCGGGAGGAGAGCG	0.522000													11	39					0	0	0.002450	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175466	207175466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:207175466G>A	ENST00000374423.3	+	5	6600	c.6214G>A	c.(6214-6216)Gag>Aag	p.E2072K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2072							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATAGTACCAGAGTTTGAGAG	0.378000													11	15					0	0	0.000978	0	0
ANAPC2	29882	broad.mit.edu	37	9	140082095	140082095	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:140082095C>T	ENST00000323927.2	-	2	582	c.578G>A	c.(577-579)gGg>gAg	p.G193E		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	193					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GTCTGTGCCCCCTTCCCCCTT	0.587000													18	53					0	0	0.006122	0	0
POPDC2	64091	broad.mit.edu	37	3	119367478	119367478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:119367478G>A	ENST00000493094.1	-	3	1097	c.638C>T	c.(637-639)tCc>tTc	p.S213F	POPDC2_ENST00000538678.1_Missense_Mutation_p.S213F|POPDC2_ENST00000468801.1_Missense_Mutation_p.S213F|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000264231.3_Missense_Mutation_p.S213F			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	213						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCGGGGCCAGGAAATGTAGCT	0.473000													15	37					0	0	0.010504	0	0
LGMN	5641	broad.mit.edu	37	14	93178215	93178215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:93178215C>T	ENST00000393218.2	-	10	1033	c.696G>A	c.(694-696)tgG>tgA	p.W232*	LGMN_ENST00000334869.4_Nonsense_Mutation_p.W232*|LGMN_ENST00000557434.1_Nonsense_Mutation_p.W232*|LGMN_ENST00000555699.1_Nonsense_Mutation_p.W232*	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	232					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TGACGCTGTACCAGTCCCCCA	0.522000													15	22					0	0	0.003163	0	0
NRXN2	9379	broad.mit.edu	37	11	64453402	64453402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:64453402C>T	ENST00000265459.6	-	6	1329	c.868G>A	c.(868-870)Gcg>Acg	p.A290T	NRXN2_ENST00000377559.3_Missense_Mutation_p.A266T|NRXN2_ENST00000377551.1_Missense_Mutation_p.A290T|NRXN2_ENST00000409571.1_Missense_Mutation_p.A290T	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	290	Laminin G-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TTGAAGGTCGCCACAAACTCC	0.582000													10	24					0	0	0.008291	0	0
PTPRB	5787	broad.mit.edu	37	12	71003006	71003006	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:71003006G>A	ENST00000334414.6	-	4	866	c.822C>T	c.(820-822)ctC>ctT	p.L274L	PTPRB_ENST00000261266.5_Silent_p.L56L|PTPRB_ENST00000550857.1_Silent_p.L56L|PTPRB_ENST00000551525.1_Silent_p.L273L|PTPRB_ENST00000550358.1_Silent_p.L274L|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Silent_p.L56L|PTPRB_ENST00000451516.2_Silent_p.L56L	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	56	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGCTATAGATGAGGCTAAAGT	0.512000													12	37					0	0	0.000978	0	0
COL7A1	1294	broad.mit.edu	37	3	48618556	48618556	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:48618556G>A	ENST00000328333.8	-	52	5041	c.4935_splice	c.e52+1	p.P1645_splice	COL7A1_ENST00000454817.1_Splice_Site_p.P1645_splice	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1645	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGTCTCACCGGAGGACCCTC	0.557000													5	10					0	0	0.000602	0	0
RTP3	83597	broad.mit.edu	37	3	46542317	46542317	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:46542317G>A	ENST00000296142.3	+	2	1199	c.627G>A	c.(625-627)agG>agA	p.R209R		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	209					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		ACATCTGTAGGAACTTAAGCA	0.433000													16	25					0	0	0.004990	0	0
GPC6	10082	broad.mit.edu	37	13	95034789	95034789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:95034789G>A	ENST00000377047.4	+	7	1889	c.1274G>A	c.(1273-1275)gGg>gAg	p.G425E		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	425						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)				TGCTGGAACGGGCACAGCAAA	0.552000													13	36					0	0	0.002450	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72165736	72165736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:72165736C>T	ENST00000555818.1	+	11	3761	c.3413C>T	c.(3412-3414)tCc>tTc	p.S1138F	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1138F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1138F|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S613F	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1138					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACGGTCTCATCCATGGCTTTA	0.483000													18	34					0	0	0.007413	0	0
GIMAP4	55303	broad.mit.edu	37	7	150270001	150270001	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:150270001G>A	ENST00000255945.2	+	3	1018	c.843G>A	c.(841-843)aaG>aaA	p.K281K	GIMAP4_ENST00000461940.1_Silent_p.K295K|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	281							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAATGGAGAAGAAACTAGCAG	0.443000													5	21					0	0	0.000602	0	0
ERCC6	2074	broad.mit.edu	37	10	50666971	50666971	+	Silent	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:50666971A>G	ENST00000355832.5	-	21	4450	c.4372T>C	c.(4372-4374)Tta>Cta	p.L1458L	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Silent_p.L828L	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1458					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GATGCAGATAACTTGGATTCA	0.478000								Direct reversal of damage;Nucleotide excision repair (NER)					15	44					0	0	0.003163	0	0
DSCAM	1826	broad.mit.edu	37	21	41414529	41414529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:41414529C>T	ENST00000400454.1	-	32	5932	c.5455G>A	c.(5455-5457)Gaa>Aaa	p.E1819K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1819					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)				TTGGCGTGTTCGTAGGCCCTG	0.527000													19	38					0	0	0.007413	0	0
OR51E2	81285	broad.mit.edu	37	11	4703151	4703151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:4703151C>T	ENST00000396950.3	-	2	1030	c.791G>A	c.(790-792)gGa>gAa	p.G264E		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGGCTGTTTCCAAAGCGGTG	0.517000													18	30					0	0	0.004990	0	0
WARS	7453	broad.mit.edu	37	14	100809692	100809692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:100809692G>A	ENST00000355338.2	-	8	1477	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000556645.1_Missense_Mutation_p.P246S|WARS_ENST00000358655.4_Missense_Mutation_p.P246S|WARS_ENST00000557135.1_Missense_Mutation_p.P287S|WARS_ENST00000344102.5_Missense_Mutation_p.P246S|WARS_ENST00000392882.2_Missense_Mutation_p.P287S	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	287					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTGAAGGAGGGAGCAGCCTGG	0.458000													3	11					0	0	0.009096	0	0
SYT16	83851	broad.mit.edu	37	14	62551075	62551075	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:62551075C>T	ENST00000430451.2	+	5	1793	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	532	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)		GCAGCCATTTCCGAAACCTCG	0.537000													16	22					0	0	0.006122	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68139385	68139385	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:68139385G>A	ENST00000262215.3	-	27	4292	c.3903C>T	c.(3901-3903)acC>acT	p.T1301T	ARFGEF1_ENST00000520381.1_Silent_p.T755T|ARFGEF1_ENST00000518230.1_Silent_p.T139T	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1301					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CAATGTGCCCGGTTGTTTGGA	0.373000													9	23					0	0	0.006214	0	0
OR1L8	138881	broad.mit.edu	37	9	125330619	125330619	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:125330619G>A	ENST00000304865.2	-	1	219	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGGCCAGGATGATGAGCAGGT	0.483000													24	44					0	0	0.003954	0	0
FLG2	388698	broad.mit.edu	37	1	152326877	152326877	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:152326877C>T	ENST00000388718.5	-	3	3457	c.3385G>A	c.(3385-3387)Gga>Aga	p.G1129R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1129	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGTCCAAAGCCAGAA	0.522000													53	110					0	0	0.003610	0	0
SMC2	10592	broad.mit.edu	37	9	106898163	106898163	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:106898163A>G	ENST00000303219.8	+	24	3634	c.3284A>G	c.(3283-3285)aAc>aGc	p.N1095S	SMC2_ENST00000374787.3_Intron|SMC2_ENST00000286398.7_Intron|SMC2_ENST00000374793.3_Intron			O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	0	Ala/Asp-rich (DA-box).				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						aaacagcagaaccatactaca	0.328000													11	31					0	0	0.001855	0	0
OR4M2	390538	broad.mit.edu	37	15	22369378	22369378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:22369378C>T	ENST00000332663.2	+	1	901	c.803C>T	c.(802-804)tCc>tTc	p.S268F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTCGTTTTCCCTAGATAAA	0.423000													14	98					0	0	0.004007	0	0
FGF23	8074	broad.mit.edu	37	12	4479772	4479772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:4479772G>A	ENST00000237837.1	-	3	638	c.493C>T	c.(493-495)Ccc>Tcc	p.P165S		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	165					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGAATTAGGGGGATCTCGTTC	0.657000													16	49					0	0	0.007413	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532180	84532180	+	RNA	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:84532180C>T	ENST00000527857.1	+	0	2202					NR_026851.1																						AGCAAAATTTCAGAGCTATCT	0.488000													7	23					0	0	0.004482	0	0
GPR158	57512	broad.mit.edu	37	10	25684905	25684905	+	Silent	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:25684905C>T	ENST00000376351.3	+	3	1433	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	358						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						AAGCAGGATTCTATCATCCTG	0.363000													13	15					0	0	0.006122	0	0
NWD1	284434	broad.mit.edu	37	19	16860798	16860798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:16860798C>T	ENST00000524140.2	+	6	1763	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	NWD1_ENST00000552788.1_Missense_Mutation_p.R449W|NWD1_ENST00000523826.1_Missense_Mutation_p.R243W|NWD1_ENST00000549814.1_Missense_Mutation_p.R449W|NWD1_ENST00000379808.3_Missense_Mutation_p.R449W|NWD1_ENST00000339803.6_Missense_Mutation_p.R314W	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	449	NACHT.						ATP binding			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						CCGCCATGCTCGGAGGGTTCC	0.597000													20	63					0	0	0.002299	0	0
ZNF560	147741	broad.mit.edu	37	19	9578870	9578870	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9578870G>A	ENST00000301480.4	-	10	966	c.753C>T	c.(751-753)ctC>ctT	p.L251L		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ATAGAGAAAGGAGGTCTTTTG	0.373000													9	36					0	0	0.000978	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606068	21606068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:21606068C>T	ENST00000281523.2	-	3	792	c.274G>A	c.(274-276)Gat>Aat	p.D92N	ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	92						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AAACTTACATCAGAATTAAAT	0.328000													11	22					0	0	0.000978	0	0
KRT82	3888	broad.mit.edu	37	12	52799831	52799831	+	Silent	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:52799831G>A	ENST00000257974.2	-	1	308	c.231C>T	c.(229-231)ggC>ggT	p.G77G		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	77	Head.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGTACCCGAAGCCAGGCAGGG	0.657000													15	26					0	0	0.002450	0	0
KCNH2	3757	broad.mit.edu	37	7	150645555	150645555	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:150645555G>A	ENST00000392968.2	-	9	3501	c.2381C>T	c.(2380-2382)tCc>tTc	p.S794F	KCNH2_ENST00000330883.4_Missense_Mutation_p.S550F|KCNH2_ENST00000262186.5_Missense_Mutation_p.S890F			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	890					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CCTGCGGAAGGACAACTTGCG	0.652000													5	36					0	0	0.000602	0	0
LUZP2	338645	broad.mit.edu	37	11	24936055	24936055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:24936055C>T	ENST00000533227.1	+	7	522	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	LUZP2_ENST00000336930.6_Missense_Mutation_p.R165C	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	165						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GAAGGAGCTTCGTTATGGGAA	0.318000													7	17					0	0	0.004482	0	0
LCE1B	353132	broad.mit.edu	37	1	152785074	152785097	+	In_Frame_Del	DEL	GCTGTGGCTCCAGCTCTGGGGGAA	GCTGTGGCTCCAGCTCTGGGGGAA	-	rs79241619	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:152785074_152785097delGCTGTGGCTCCAGCTCTGGGGGAA	ENST00000360090.3	+	1	628_651	c.152_175delGCTGTGGCTCCAGCTCTGGGGGAA	c.(151-177)tgc>t	p.CCGSSSGGS51del		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	51	Gly-rich.				keratinization			p.C51F(1)|p.S56C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCGGAGGCTGCTGTGGCTCCAGCTCTGGGGGAAGCTGTGGCTC	0.652													12	82	---	---	---	---					
ARIH2	10425	broad.mit.edu	37	3	49008031	49008031	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:49008031delC	ENST00000356401.4	+	8	1003	c.664delC	c.(664-666)atfs	p.H222fs	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Frame_Shift_Del_p.H222fs	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	222					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TTCACAGAGTCATTACCAGCT	0.502													14	76	---	---	---	---					
SRP72	6731	broad.mit.edu	37	4	57350909	57350909	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:57350909delA	ENST00000342756.5	+	10	1686	c.965delA	c.(964-966)cafs	p.Q322fs	SRP72_ENST00000510663.1_Frame_Shift_Del_p.Q261fs	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	322					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TAGGCTGAACAATGCCGCAAA	0.418													20	40	---	---	---	---					
RAD17	5884	broad.mit.edu	37	5	68709960	68709960	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:68709960delG	ENST00000509734.1	+	18	2565	c.1887delG	c.(1885-1887)ctfs	p.L629fs	RAD17_ENST00000504177.1_3'UTR|RAD17_ENST00000354868.5_Frame_Shift_Del_p.L618fs|RAD17_ENST00000380774.3_Frame_Shift_Del_p.L629fs|RAD17_ENST00000345306.6_Frame_Shift_Del_p.L618fs|RAD17_ENST00000358030.2_Frame_Shift_Del_p.L453fs|RAD17_ENST00000305138.4_Frame_Shift_Del_p.L618fs|RAD17_ENST00000521422.1_Frame_Shift_Del_p.L453fs|RAD17_ENST00000282891.6_Frame_Shift_Del_p.L532fs|RAD17_ENST00000361732.2_Frame_Shift_Del_p.L618fs|RAD17_ENST00000354312.3_Frame_Shift_Del_p.L618fs			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	629	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AGGAATCTCTGGGTGAACCCA	0.527								Other conserved DNA damage response genes					28	66	---	---	---	---					
GEMIN5	25929	broad.mit.edu	37	5	154271035	154271036	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:154271035_154271036delAA	ENST00000285873.7	-	26	4102_4103	c.4027_4028delTT	c.(4027-4029)gfs	p.L1343fs		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1343					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGTGAGTCTCAAGTCTAGTTCT	0.475													28	111	---	---	---	---					
ZKSCAN5	23660	broad.mit.edu	37	7	99128970	99128970	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:99128970delA	ENST00000394170.2	+	7	1869	c.1618delA	c.(1618-1620)aafs	p.K541fs	ZKSCAN5_ENST00000451158.1_Frame_Shift_Del_p.K541fs|ZKSCAN5_ENST00000326775.5_Frame_Shift_Del_p.K541fs	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	541					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ATATGTCCACAAAAAATCCTC	0.418													13	23	---	---	---	---					
LMBR1	64327	broad.mit.edu	37	7	156589158	156589158	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:156589158delG	ENST00000353442.4	-	5	584	c.348delC	c.(346-348)tcfs	p.S116fs	LMBR1_ENST00000359422.4_5'UTR|LMBR1_ENST00000354505.4_Frame_Shift_Del_p.S116fs|LMBR1_ENST00000540390.1_Frame_Shift_Del_p.S95fs	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	116						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		AACAAAGGTTGGAAAAAAGGG	0.333													9	16	---	---	---	---					
ABO	28	broad.mit.edu	37	9	136131057	136131057	+	RNA	DEL	G	G	-	rs8176750		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:136131057delG	ENST00000453660.2	-	0	1071							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	p.P353fs?(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		AGCCGCTCACGGGTTCCGGAC	0.662													5	3	---	---	---	---					
ABLIM1	3983	broad.mit.edu	37	10	116361718	116361718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:116361718delC	ENST00000369252.4	-	2	368	c.67delG	c.(67-69)ccfs	p.A23fs	ABLIM1_ENST00000277895.5_Frame_Shift_Del_p.A83fs|ABLIM1_ENST00000477638.1_5'UTR|ABLIM1_ENST00000533213.2_Frame_Shift_Del_p.A23fs	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	83					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	p.A23S(1)|p.A83S(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TGAGGGTGGGCCACTGAAAGA	0.493													23	27	---	---	---	---					
SPPL2B	56928	broad.mit.edu	37	19	2353276	2353279	+	RNA	DEL	AGAC	AGAC	-	rs111785886		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:2353276_2353279delAGAC	ENST00000452401.2	+	0	1988_1991				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCCACTGGAGACAGACAGACAG	0.711													6	6	---	---	---	---					
