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
TTN	7273	broad.mit.edu	37	2	179576684	179576684	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:179576684G>A	ENST00000589042.1	-	96	28097	c.27873C>T	c.(27871-27873)ttC>ttT	p.F9291F	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Silent_p.F8974F|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.F8047F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8974	Ig-like 76.						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)			GAACGGTAAGGAAAGTTGATG	0.353000													42	43					0	0	0.009718	0	0
CNGB3	54714	broad.mit.edu	37	8	87623882	87623882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:87623882C>T	ENST00000320005.5	-	14	1643	c.1596G>A	c.(1594-1596)atG>atA	p.M532I		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	532					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGTCATAAATCATCTGTGTAT	0.308000													13	18					0	0	0.001855	0	0
F2RL1	2150	broad.mit.edu	37	5	76129230	76129230	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:76129230C>T	ENST00000296677.4	+	2	1004	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	266					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TGCTGATGATCAGAATGCTGC	0.493000													167	221					0	0	0.014410	0	0
LUZP1	7798	broad.mit.edu	37	1	23418837	23418837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:23418837G>A	ENST00000302291.4	-	4	2719	c.1918C>T	c.(1918-1920)Ccg>Tcg	p.P640S	LUZP1_ENST00000314174.5_Missense_Mutation_p.P640S|LUZP1_ENST00000418342.1_Missense_Mutation_p.P640S|LUZP1_ENST00000374623.3_Missense_Mutation_p.P640S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	640						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCTTCATGCGGACTGCTGTCT	0.458000													58	75					0	0	0.014410	0	0
MLLT4	4301	broad.mit.edu	37	6	168347581	168347581	+	Splice_Site	SNP	A	A	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:168347581A>G	ENST00000366806.2	+	27	3674	c.3532_splice	c.e27+1	p.N1178_splice	MLLT4_ENST00000400822.3_Splice_Site_p.N1177_splice|MLLT4_ENST00000392112.1_Splice_Site_p.N1161_splice|MLLT4_ENST00000351017.4_Splice_Site_p.N1185_splice|MLLT4_ENST00000447894.2_Splice_Site_p.N1178_splice|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000344191.4_Splice_Site_p.N1178_splice|MLLT4_ENST00000392108.3_Splice_Site_p.N1178_splice			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1178					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CAACGTAGCAAGTAAGAGTGA	0.413000			T	MLL	AL								27	5					0	0	0.005443	0	0
TNC	3371	broad.mit.edu	37	9	117848907	117848907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:117848907G>A	ENST00000350763.4	-	3	1514	c.1103C>T	c.(1102-1104)gCc>gTc	p.A368V	TNC_ENST00000535648.1_Missense_Mutation_p.A368V|TNC_ENST00000341037.4_Missense_Mutation_p.A368V|TNC_ENST00000340094.3_Missense_Mutation_p.A368V|TNC_ENST00000345230.3_Missense_Mutation_p.A368V|TNC_ENST00000423613.2_Missense_Mutation_p.A368V|TNC_ENST00000537320.1_Missense_Mutation_p.A368V|TNC_ENST00000542877.1_Missense_Mutation_p.A368V|TNC_ENST00000346706.3_Missense_Mutation_p.A368V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	368	EGF-like 7.				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						GTCCACACCGGCAAAGCCCTC	0.602000													4	52					0	0	0.000602	0	0
CARF	79800	broad.mit.edu	37	2	203839170	203839170	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:203839170C>T	ENST00000320443.8	+	12	2488	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	CARF_ENST00000438828.2_Missense_Mutation_p.S482F|CARF_ENST00000402905.2_Missense_Mutation_p.S482F|CARF_ENST00000414439.1_Missense_Mutation_p.S380F|CARF_ENST00000428585.1_Missense_Mutation_p.S406F|CARF_ENST00000545262.1_Missense_Mutation_p.S406F|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545253.1_Missense_Mutation_p.S394F					calcium responsive transcription factor																		GTACAGAAATCCTTGAGAAAT	0.343000													91	121					0	0	0.014410	0	0
NPAP1	23742	broad.mit.edu	37	15	24924372	24924372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:24924372C>T	ENST00000329468.2	+	1	3832	c.3358C>T	c.(3358-3360)Caa>Taa	p.Q1120*		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCCTGCTTTTCAACAGTGCAT	0.468000													40	46					0	0	0.007835	0	0
PRSS55	203074	broad.mit.edu	37	8	10396229	10396229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:10396229G>A	ENST00000328655.3	+	5	1025	c.985G>A	c.(985-987)Gag>Aag	p.E329K	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Intron	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	329					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGGAGTCCCAGAGCCAGGCAG	0.512000													58	72					0	0	0.014410	0	0
OR2A12	346525	broad.mit.edu	37	7	143792319	143792319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:143792319G>A	ENST00000408949.2	+	1	179	c.119G>A	c.(118-120)gGa>gAa	p.G40E		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					ACCCTGATGGGAAATGGGATT	0.493000													26	39					0	0	0.003954	0	0
TACC2	10579	broad.mit.edu	37	10	123845510	123845510	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:123845510C>T	ENST00000369005.1	+	4	3835	c.3495C>T	c.(3493-3495)tgC>tgT	p.C1165C	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.C1165C|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.C1165C|TACC2_ENST00000515603.1_Silent_p.C1165C|TACC2_ENST00000334433.3_Silent_p.C1165C	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1165						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGAGCACTGCCTTACCTCCG	0.612000													10	8					0	0	0.010729	0	0
LIFR	3977	broad.mit.edu	37	5	38510728	38510728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:38510728C>T	ENST00000263409.4	-	7	991	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.V277M	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	277					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GCTGATAACACTTTTTCTTGA	0.383000			T	PLAG1	salivary adenoma								21	10					0	0	0.008871	0	0
ARMC4	55130	broad.mit.edu	37	10	28151543	28151543	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:28151543C>T	ENST00000305242.5	-	18	2711	c.2619G>A	c.(2617-2619)ggG>ggA	p.G873G	ARMC4_ENST00000537576.1_Silent_p.G565G|ARMC4_ENST00000545014.1_Silent_p.G398G	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	873							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						GAACCATTTCCCCAGCATCCT	0.363000													7	6					0	0	0.001984	0	0
NPAP1	23742	broad.mit.edu	37	15	24921891	24921891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:24921891C>T	ENST00000329468.2	+	1	1351	c.877C>T	c.(877-879)Ccg>Tcg	p.P293S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTAGGCTTGCCGATTCCGCT	0.617000													26	23					0	0	0.007291	0	0
AGAP8	728404	broad.mit.edu	37	10	51225024	51225024	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:51225024A>G	ENST00000602930.1	-	9	2459	c.1910T>C	c.(1909-1911)cTt>cCt	p.L637P	AGAP8_ENST00000425119.2_Missense_Mutation_p.L653P	NM_001276343.1	NP_001263272.1	Q5SRD3	AGAP8_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 8	653					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						GTACTGCAGAAGCACGTTGAT	0.537000													37	70					0	0	0.007835	0	0
ADCY1	107	broad.mit.edu	37	7	45717849	45717849	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:45717849C>T	ENST00000297323.7	+	10	1907	c.1885C>T	c.(1885-1887)Cta>Tta	p.L629L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	629					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)	TGTCTACCTTCTAATATTCCC	0.502000													38	61					0	0	0.007835	0	0
ULK1	8408	broad.mit.edu	37	12	132400481	132400481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:132400481G>A	ENST00000321867.4	+	19	2006	c.1655G>A	c.(1654-1656)tGc>tAc	p.C552Y		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	552					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GGGCTGGGCTGCCGCCTGCAC	0.697000													21	21					0	0	0.003954	0	0
OR13C4	138804	broad.mit.edu	37	9	107288987	107288987	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:107288987G>A	ENST00000277216.3	-	1	503	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGTTCCCACAGAAAGGCCATC	0.388000													22	23					0	0	0.012319	0	0
CACNG6	59285	broad.mit.edu	37	19	54501563	54501563	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:54501563G>A	ENST00000252729.2	+	2	992	c.402G>A	c.(400-402)aaG>aaA	p.K134K	CACNG6_ENST00000352529.1_Intron|CACNG6_ENST00000346968.2_Silent_p.K134K	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	134						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GAACCACAAAGAAAGGTGAGA	0.498000													19	12					0	0	0.014323	0	0
KRT23	25984	broad.mit.edu	37	17	39092465	39092465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:39092465C>T	ENST00000209718.3	-	2	815	c.391G>A	c.(391-393)Gag>Aag	p.E131K	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	131	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				CTTACCTGCTCCTGCAGGTGT	0.512000													30	32					0	0	0.009535	0	0
TLX3	30012	broad.mit.edu	37	5	170736745	170736745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:170736745C>T	ENST00000296921.5	+	1	458	c.376C>T	c.(376-378)Ccc>Tcc	p.P126S		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	126						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTCAATTTCCCCTGGATGGA	0.706000			T	BCL11B	T-ALL								11	13					0	0	0.001855	0	0
NCAPH2	29781	broad.mit.edu	37	22	50961498	50961498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr22:50961498G>A	ENST00000395701.3	+	19	1674	c.1580G>A	c.(1579-1581)cGg>cAg	p.R527Q	NCAPH2_ENST00000299821.11_Missense_Mutation_p.R528Q|NCAPH2_ENST00000420993.2_Missense_Mutation_p.R527Q			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	527					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CTGGTCTCACGGTTCCCCCAG	0.642000													10	6					0	0	0.008291	0	0
CETN1	1068	broad.mit.edu	37	18	580754	580754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:580754G>A	ENST00000327228.3	+	1	388	c.346G>A	c.(346-348)Gat>Aat	p.D116N		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	116	EF-hand 3.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						CTTTGATGACGATGAGACCGG	0.527000													19	25					0	0	0.006122	0	0
MGAM	8972	broad.mit.edu	37	7	141721425	141721425	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:141721425G>A	ENST00000475668.2	+	6	652	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	MGAM_ENST00000549489.2_Missense_Mutation_p.E200K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	200	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGTGCCCCACGAACACGTGCA	0.428000													20	19					0	0	0.010504	0	0
PRSS12	8492	broad.mit.edu	37	4	119259455	119259455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:119259455G>A	ENST00000296498.3	-	2	799	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	173	SRCR 1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TTGCCGCCACGAAGTCGTACT	0.413000													10	13					0	0	0.006214	0	0
SDS	10993	broad.mit.edu	37	12	113835197	113835197	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:113835197C>T	ENST00000257549.4	-	6	548	c.425_splice	c.e6-1	p.W142_splice		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	142					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CGTGGCCTTCCCTGGAGGGTG	0.657000													16	14					0	0	0.003163	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73073652	73073652	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:73073652C>T	ENST00000263674.3	+	14	5219	c.4869C>T	c.(4867-4869)ctC>ctT	p.L1623L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1623					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CGCCGGGCCTCGGCGAGGGTG	0.701000													21	18					0	0	0.008871	0	0
KRT79	338785	broad.mit.edu	37	12	53227901	53227901	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:53227901G>A	ENST00000330553.5	-	1	178	c.144C>T	c.(142-144)gcC>gcT	p.A48A		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	48	Head.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCCACAGTGGGCCCCGCCAC	0.652000													10	33					0	0	0.006214	0	0
MYLK2	85366	broad.mit.edu	37	20	30414646	30414646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:30414646C>T	ENST00000375994.2	+	7	1402	c.1129C>T	c.(1129-1131)Cat>Tat	p.H377Y	MYLK2_ENST00000375985.4_Missense_Mutation_p.H377Y|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	377	Protein kinase.				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)			TGAGGACTACCATCTGACCGA	0.582000													19	20					0	0	0.008871	0	0
NRXN1	9378	broad.mit.edu	37	2	50733643	50733643	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:50733643C>T	ENST00000404971.1	-	14	3946	c.2607G>A	c.(2605-2607)caG>caA	p.Q869Q	NRXN1_ENST00000405472.3_Silent_p.Q821Q|NRXN1_ENST00000406859.3_Silent_p.Q829Q|NRXN1_ENST00000401669.2_Silent_p.Q829Q|NRXN1_ENST00000406316.2_Silent_p.Q829Q|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Silent_p.Q821Q	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	829	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTGTCATGGCCTGTTGGTCAT	0.453000													9	6					0	0	0.004482	0	0
SCN5A	6331	broad.mit.edu	37	3	38597168	38597168	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:38597168C>T	ENST00000413689.1	-	26	4714	c.4521G>A	c.(4519-4521)caG>caA	p.Q1507Q	SCN5A_ENST00000455624.2_Silent_p.Q1506Q|SCN5A_ENST00000451551.2_Silent_p.Q1453Q|SCN5A_ENST00000450102.2_Silent_p.Q1453Q|SCN5A_ENST00000449557.2_Silent_p.Q1453Q|SCN5A_ENST00000443581.1_Silent_p.Q1506Q|SCN5A_ENST00000425664.1_Silent_p.Q1489Q|SCN5A_ENST00000423572.2_Silent_p.Q1506Q|SCN5A_ENST00000414099.2_Silent_p.Q1489Q|SCN5A_ENST00000333535.4_Silent_p.Q1507Q	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1507			Missing (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGATGGGCTTCTGGGGCTTCT	0.582000													31	50					0	0	0.008361	0	0
TF	7018	broad.mit.edu	37	3	133478078	133478078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:133478078G>A	ENST00000402696.3	+	9	1593	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	TF_ENST00000264998.3_Missense_Mutation_p.E243K	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	370	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GAGCCACCACGAGAGGCTCAA	0.498000													35	41					0	0	0.004289	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11868860	11868860	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:11868860G>A	ENST00000396516.2	-	7	792	c.595C>T	c.(595-597)Cat>Tat	p.H199Y	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.H199Y			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	199						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						TCCACAGAATGGTTCAAAGCC	0.373000													20	25					0	0	0.014323	0	0
EPSTI1	94240	broad.mit.edu	37	13	43462570	43462570	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:43462570A>T	ENST00000313640.7	-	13	1113	c.1049T>A	c.(1048-1050)cTt>cAt	p.L350H	EPSTI1_ENST00000313624.7_3'UTR	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	0										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		ATTAAGAAAAAGCATCTCATG	0.403000													50	23					0	0	0.014410	0	0
VPS13C	54832	broad.mit.edu	37	15	62211588	62211588	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:62211588T>C	ENST00000261517.5	-	58	7611	c.7538A>G	c.(7537-7539)tAt>tGt	p.Y2513C	VPS13C_ENST00000395898.3_Missense_Mutation_p.Y2470C|VPS13C_ENST00000395896.4_Missense_Mutation_p.Y2513C|VPS13C_ENST00000249837.3_Missense_Mutation_p.Y2470C	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2513					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CCGTACATTATACAATCGCCG	0.413000													36	45					0	0	0.008740	0	0
TRBV28	28559	broad.mit.edu	37	7	142428803	142428803	+	RNA	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:142428803C>T	ENST00000390400.2	+	0	183																											GTTCTGGTATCGACAAGACCC	0.423000													10	12					0	0	0.008291	0	0
CSMD2	114784	broad.mit.edu	37	1	34286079	34286079	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:34286079G>A	ENST00000373381.4	-	8	1366	c.1190C>T	c.(1189-1191)tCg>tTg	p.S397L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	357	Sushi 2.					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)				CCTGAAATCCGAGCCTAGTCT	0.488000													57	62					0	0	0.014410	0	0
NWD1	284434	broad.mit.edu	37	19	16875863	16875863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:16875863C>T	ENST00000524140.2	+	10	2688	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F	NWD1_ENST00000552788.1_Missense_Mutation_p.S757F|NWD1_ENST00000549814.1_Missense_Mutation_p.S757F|NWD1_ENST00000523826.1_Missense_Mutation_p.S551F|NWD1_ENST00000339803.6_Missense_Mutation_p.S622F|NWD1_ENST00000379808.3_Missense_Mutation_p.S757F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	757							ATP binding	p.S622F(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCTGGATTTCCTGCCGGGGC	0.597000													16	21					0	0	0.004007	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820022	50820022	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:50820022C>T	ENST00000374115.3	+	1	1676	c.1236C>T	c.(1234-1236)cgC>cgT	p.R412R	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	412					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGGACGTGCGCCATGTCTCAG	0.622000													8	10					0	0	0.003080	0	0
AP1G2	8906	broad.mit.edu	37	14	24033266	24033266	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:24033266G>A	ENST00000308724.5	-	10	1835	c.1080C>T	c.(1078-1080)gcC>gcT	p.A360A	AP1G2_ENST00000397120.3_Silent_p.A360A|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	360					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GGCTGAGGGAGGCATCAGTTT	0.592000													15	8					0	0	0.002450	0	0
HPSE2	60495	broad.mit.edu	37	10	100401655	100401655	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:100401655C>T	ENST00000370552.3	-	7	1106	c.1047G>A	c.(1045-1047)ctG>ctA	p.L349L	HPSE2_ENST00000404542.1_Silent_p.L237L|HPSE2_ENST00000370546.1_Silent_p.L349L|HPSE2_ENST00000370549.1_Silent_p.L291L	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	349					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GGCGAGTTTTCAGGAAGTCCA	0.398000													64	82					0	0	0.014410	0	0
MAEL	84944	broad.mit.edu	37	1	166963267	166963267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:166963267G>A	ENST00000367872.4	+	5	728	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	MAEL_ENST00000367870.2_Missense_Mutation_p.E131K|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	162					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						TATTATAGGTGAAATTCCACG	0.348000													6	18					0	0	0.001168	0	0
MYH4	4622	broad.mit.edu	37	17	10363552	10363552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:10363552C>T	ENST00000255381.2	-	13	1344	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	412	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						GTTACGAACTCATTGCCGACC	0.448000													39	29					0	0	0.007835	0	0
GALNT8	26290	broad.mit.edu	37	12	4853771	4853771	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:4853771G>A	ENST00000252318.2	+	4	1102	c.765G>A	c.(763-765)agG>agA	p.R255R		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	255	Catalytic subdomain A.					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						ATCCTGAAAGGAAAGGTCTTG	0.468000													12	13					0	0	0.013537	0	0
PSMD5	5711	broad.mit.edu	37	9	123605157	123605157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:123605157C>T	ENST00000210313.3	-	1	105	c.31G>A	c.(31-33)Gag>Aag	p.E11K	PSMD5-AS1_ENST00000589026.1_RNA|PSMD5_ENST00000373904.5_Missense_Mutation_p.E11K	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	11					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						CTCGCTACCTCTCTCAGCAGC	0.692000													5	8					0	0	0.001168	0	0
VCPIP1	80124	broad.mit.edu	37	8	67547093	67547093	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:67547093G>A	ENST00000310421.4	-	3	3570	c.3312C>T	c.(3310-3312)gcC>gcT	p.A1104A		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1104					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTTTTCGCTGGGCCTCAACCA	0.448000													29	37					0	0	0.010818	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													3	33					0	0	0.004672	0	0
OBSCN	84033	broad.mit.edu	37	1	228505874	228505874	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:228505874G>A	ENST00000570156.2	+	64	17076	c.17002_splice	c.e64+1	p.V5668_splice	OBSCN_ENST00000422127.1_Splice_Site_p.V4711_splice|OBSCN_ENST00000366709.4_Splice_Site_p.V1830_splice|OBSCN_ENST00000284548.11_Splice_Site_p.V4711_splice|OBSCN_ENST00000366707.4_Splice_Site_p.V2345_splice	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4711	SH3.				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)				CACCTTCCAGGGTGCGTTGTC	0.637000													11	31					0	0	0.010729	0	0
WNT16	51384	broad.mit.edu	37	7	120979033	120979033	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:120979033G>A	ENST00000222462.2	+	4	1022	c.732G>A	c.(730-732)aaG>aaA	p.K244K	WNT16_ENST00000361301.2_Silent_p.K234K	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	244					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					CTTTTGAAAAGATTGGCCATT	0.428000													12	35					0	0	0.001855	0	0
KIAA0319	9856	broad.mit.edu	37	6	24551733	24551733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:24551733C>T	ENST00000535378.1	-	21	3584	c.2942G>A	c.(2941-2943)aGg>aAg	p.R981K	KIAA0319_ENST00000543707.1_Missense_Mutation_p.R990K|KIAA0319_ENST00000537886.1_Intron|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R945K|KIAA0319_ENST00000378214.3_Missense_Mutation_p.R990K	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	990					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TGTTTTTTTCCTGATTTTAGT	0.398000													11	37					0	0	0.013537	0	0
RAB23	51715	broad.mit.edu	37	6	57072428	57072428	+	Missense_Mutation	SNP	C	C	T	rs145669565		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:57072428C>T	ENST00000317483.3	-	3	858	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	RAB23_ENST00000468148.1_Missense_Mutation_p.R80Q	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	80					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.R80Q(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGTTTTACCTCGATAGTAGGC	0.333000													38	63					0	0	0.010771	0	0
NUP205	23165	broad.mit.edu	37	7	135261829	135261829	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:135261829A>G	ENST00000285968.6	+	5	627	c.601A>G	c.(601-603)Aaa>Gaa	p.K201E	NUP205_ENST00000440390.2_Silent_p.R4R	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	201					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGAGTTTGAGAAACTACAGCG	0.418000													18	11					0	0	0.010504	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162016	90162016	+	RNA	SNP	A	A	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:90162016A>C	ENST00000567960.1	+	0	752				TUBB8P7_ENST00000564451.1_RNA																							TGCTGACCTGAGGAAGCTGGC	0.622000													3	15					0	0	0.009096	0	0
CPZ	8532	broad.mit.edu	37	4	8621229	8621229	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:8621229A>G	ENST00000429646.2	+	9	3461	c.668A>G	c.(667-669)gAg>gGg	p.E223G	CPZ_ENST00000382480.2_Missense_Mutation_p.E478G|CPZ_ENST00000360986.4_Missense_Mutation_p.E615G|CPZ_ENST00000315782.6_Missense_Mutation_p.E604G			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	615					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						GAGGCCACGGAGCCCGACCCG	0.677000													25	0					0	0	0.006320	0	0
FBLN2	2199	broad.mit.edu	37	3	13679062	13679062	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:13679062G>A	ENST00000404922.3	+	18	3458	c.3338_splice	c.e18-1	p.T1113_splice	FBLN2_ENST00000295760.7_Splice_Site_p.T1066_splice|FBLN2_ENST00000535798.1_Splice_Site_p.T1092_splice|FBLN2_ENST00000492059.1_Splice_Site_p.T1113_splice	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1066	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.T532T(1)|p.T1113T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTCCCTGCAGGAAGTGCGAGC	0.657000													6	10					0	0	0.001984	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391864	139391864	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:139391864G>A	ENST00000277541.6	-	34	6402	c.6327C>T	c.(6325-6327)atC>atT	p.I2109I		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2109					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCAGCCTCACGATGTCGTGAT	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			21	32					0	0	0.014323	0	0
CHKA	1119	broad.mit.edu	37	11	67821482	67821482	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:67821482G>A	ENST00000265689.4	-	12	1373	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	CHKA_ENST00000533728.1_5'UTR|CHKA_ENST00000356135.5_Silent_p.F431F	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	449					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)	TCTTCTGGTGGAAATAGGCAT	0.587000													7	6					0	0	0.003080	0	0
ZBTB4	57659	broad.mit.edu	37	17	7369840	7369840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:7369840G>A	ENST00000311403.4	-	3	620	c.281C>T	c.(280-282)tCt>tTt	p.S94F	ZBTB4_ENST00000380599.4_Missense_Mutation_p.S94F	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	94	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		agaagaggaagaagacgagga	0.617000													10	10					0	0	0.006214	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44028838	44028838	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:44028838C>T	ENST00000260605.8	+	10	892	c.792C>T	c.(790-792)ttC>ttT	p.F264F	DYNC2LI1_ENST00000443170.3_Silent_p.F138F|DYNC2LI1_ENST00000605786.1_Silent_p.F265F	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	264						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGATTCTTTCGGTCAAATAG	0.338000													123	161					0	0	0.014410	0	0
ZNF592	9640	broad.mit.edu	37	15	85326082	85326082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:85326082C>T	ENST00000299927.3	+	1	198	c.176C>T	c.(175-177)tCa>tTa	p.S59L	ZNF592_ENST00000560079.2_Missense_Mutation_p.S59L			Q92610	ZN592_HUMAN	zinc finger protein 592	59					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CACTCAGGATCAGCCCCCGAT	0.542000													24	35					0	0	0.002780	0	0
SAMD9	54809	broad.mit.edu	37	7	92734852	92734852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:92734852G>A	ENST00000379958.2	-	3	828	c.559C>T	c.(559-561)Cca>Tca	p.P187S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	187						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)			AGATTGCCTGGTCCTGTTTCA	0.388000													34	49					0	0	0.012213	0	0
TAOK2	9344	broad.mit.edu	37	16	29998375	29998375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:29998375C>T	ENST00000308893.4	+	16	3825	c.2782C>T	c.(2782-2784)Cct>Tct	p.P928S	TAOK2_ENST00000543033.1_Missense_Mutation_p.P815S|TAOK2_ENST00000416441.2_Missense_Mutation_p.P755S|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	928					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CGACATCCCTCCTGAACCCCC	0.647000													53	71					0	0	0.014410	0	0
ABCB11	8647	broad.mit.edu	37	2	169833117	169833117	+	Silent	SNP	G	G	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:169833117G>C	ENST00000263817.6	-	12	1402	c.1278C>G	c.(1276-1278)acC>acG	p.T426T		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	426	ABC transporter 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GATAATGGAAGGTCACATTAT	0.398000													17	18					0	0	0.004990	0	0
HEPH	9843	broad.mit.edu	37	X	65476088	65476088	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:65476088G>A	ENST00000519389.1	+	17	3153	c.2974G>A	c.(2974-2976)Gaa>Aaa	p.E992K	HEPH_ENST00000343002.2_Missense_Mutation_p.E938K|HEPH_ENST00000441993.2_Missense_Mutation_p.E941K|HEPH_ENST00000419594.1_Missense_Mutation_p.E749K|HEPH_ENST00000336279.5_Missense_Mutation_p.E671K|HEPH_ENST00000374727.3_Missense_Mutation_p.E941K			Q9BQS7	HEPH_HUMAN	hephaestin	938	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTATTTGGAGGAAAATGTGGC	0.433000													13	0					0	0	0.001855	0	0
OR2K2	26248	broad.mit.edu	37	9	114090650	114090650	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:114090650C>T	ENST00000374428.1	-	1	150	c.151G>A	c.(151-153)Ggg>Agg	p.G51R	OR2K2_ENST00000302681.1_Missense_Mutation_p.G22R			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	51					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						ACTTCTAACCCTGGGTACTGG	0.403000													15	24					0	0	0.007413	0	0
KRT5	3852	broad.mit.edu	37	12	52913771	52913771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:52913771C>T	ENST00000252242.4	-	1	700	c.310G>A	c.(310-312)Gga>Aga	p.G104R		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	104	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		aaaccaaatccactaccggca	0.617000													18	18					0	0	0.004990	0	0
FBLN5	10516	broad.mit.edu	37	14	92403366	92403366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:92403366G>A	ENST00000267620.10	-	5	596	c.427C>T	c.(427-429)Cca>Tca	p.P143S	FBLN5_ENST00000556154.1_Missense_Mutation_p.P107S|FBLN5_ENST00000342058.4_Missense_Mutation_p.P102S			Q9UBX5	FBLN5_HUMAN	fibulin 5	102	EGF-like 2; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				GGATAGTTTGGAGCTGAGAGT	0.562000													30	26					0	0	0.013726	0	0
SAMD4A	23034	broad.mit.edu	37	14	55251155	55251155	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:55251155C>T	ENST00000555192.1	+	7	1031	c.915C>T	c.(913-915)tcC>tcT	p.S305S	SAMD4A_ENST00000554335.1_Intron|SAMD4A_ENST00000357634.3_Intron|SAMD4A_ENST00000251091.5_Intron|SAMD4A_ENST00000392067.3_Intron	NM_001161577.1	NP_001155049.1	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	681					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TCCCCAAGTCCTCCCAGGGAG	0.547000													8	8					0	0	0.003080	0	0
SNX33	257364	broad.mit.edu	37	15	75941913	75941913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:75941913C>T	ENST00000308527.5	+	1	1667	c.470C>T	c.(469-471)gCc>gTc	p.A157V		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	157					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						CAGCACATGGCCTTCCGGCCC	0.652000													9	20					0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	8982215	8982215	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:8982215G>A	ENST00000397910.4	-	70	42263	c.42060C>T	c.(42058-42060)acC>acT	p.T14020T	MUC16_ENST00000380951.5_Silent_p.T661T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14045	SEA 13.			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						TGATGCCATGGGTCTGCTGGC	0.632000													22	21					0	0	0.003330	0	0
SLC38A11	151258	broad.mit.edu	37	2	165765251	165765251	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:165765251G>A	ENST00000303735.4	-	9	1090	c.760C>T	c.(760-762)Ctt>Ttt	p.L254F	SLC38A11_ENST00000409058.1_Missense_Mutation_p.L307F|SLC38A11_ENST00000409662.1_Missense_Mutation_p.L276F|SLC38A11_ENST00000409149.3_Missense_Mutation_p.L276F	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	276					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						ACCGATGAAAGATTCCCACCA	0.398000													16	14					0	0	0.004007	0	0
ANKRD26	22852	broad.mit.edu	37	10	27356094	27356094	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:27356094T>C	ENST00000376087.4	-	10	1364	c.1199A>G	c.(1198-1200)aAt>aGt	p.N400S	ANKRD26_ENST00000436985.2_Missense_Mutation_p.N449S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	400						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ACCACTTCTATTATTTTTGTG	0.348000													20	21					0	0	0.010504	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431863	140431863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140431863G>A	ENST00000306549.3	+	1	885	c.808G>A	c.(808-810)Gac>Aac	p.D270N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		270	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGGACCTAGACGAGGGCAC	0.522000													8	15					0	0	0.003080	0	0
SLC5A12	159963	broad.mit.edu	37	11	26714112	26714112	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:26714112C>T	ENST00000396005.3	-	9	1386	c.1077G>A	c.(1075-1077)gtG>gtA	p.V359V	SLC5A12_ENST00000280467.6_Silent_p.V359V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	359					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CCTCAAAGGTCACTGTTGCCA	0.478000													14	27					0	0	0.004007	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565046	58565046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:58565046G>A	ENST00000282326.1	+	6	1101	c.854G>A	c.(853-855)gGg>gAg	p.G285E		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	285					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GTGCCGCGTGGGCCCCGAGGT	0.632000													25	23					0	0	0.005443	0	0
GK2	2712	broad.mit.edu	37	4	80327758	80327758	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:80327758C>T	ENST00000358842.3	-	1	1614	c.1597G>A	c.(1597-1599)Gga>Aga	p.G533R		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	533					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						ATAAAAAATCCCAAAGGCAGA	0.418000													20	25					0	0	0.010504	0	0
LINGO2	158038	broad.mit.edu	37	9	27949363	27949363	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:27949363C>T	ENST00000379992.2	-	6	1756	c.1307G>A	c.(1306-1308)gGa>gAa	p.G436E	LINGO2_ENST00000308675.3_Missense_Mutation_p.G436E	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	436	Ig-like C2-type.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CTGCGGGTCTCCATCTGCACT	0.502000													22	16					0	0	0.014323	0	0
CDCP2	200008	broad.mit.edu	37	1	54605583	54605583	+	Silent	SNP	C	C	T	rs149351262	by1000genomes	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:54605583C>T	ENST00000371330.1	-	4	1807	c.960G>A	c.(958-960)gcG>gcA	p.A320A		NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	320	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CATCGAAGGCCGCCAGATGGT	0.632000													13	10					0	0	0.013537	0	0
OR5M11	219487	broad.mit.edu	37	11	56310253	56310253	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:56310253G>A	ENST00000528616.2	-	1	504	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CGGAAGGTCAGGATGGCCTGG	0.498000													9	15					0	0	0.004482	0	0
KLHL13	90293	broad.mit.edu	37	X	117032927	117032927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:117032927G>A	ENST00000371876.1	-	6	4180	c.1759C>T	c.(1759-1761)Cca>Tca	p.P587S	KLHL13_ENST00000262820.3_Missense_Mutation_p.P638S|KLHL13_ENST00000540167.1_Missense_Mutation_p.P622S|KLHL13_ENST00000539496.1_Missense_Mutation_p.P641S|KLHL13_ENST00000469946.1_Missense_Mutation_p.P587S|KLHL13_ENST00000545703.1_Missense_Mutation_p.P596S|KLHL13_ENST00000371882.1_Missense_Mutation_p.P587S|KLHL13_ENST00000541812.1_Missense_Mutation_p.P622S|KLHL13_ENST00000371878.1_Missense_Mutation_p.P587S			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	638					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCTTCTGGTGGAAAAACTGTG	0.423000													23	2					0	0	0.014323	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720249	140720249	+	Missense_Mutation	SNP	G	G	A	rs147953582		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140720249G>A	ENST00000394576.2	+	1	1711	c.1711G>A	c.(1711-1713)Ggt>Agt	p.G571S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCACAGACGGTTCCACTGG	0.637000													43	53					0	0	0.013114	0	0
DSC3	1825	broad.mit.edu	37	18	28581646	28581646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:28581646C>T	ENST00000434452.1	-	14	2327	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K	DSC3_ENST00000360428.4_Missense_Mutation_p.E725K	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	725					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCTAAATCTTCAGGAAAACGT	0.299000													24	31					0	0	0.007291	0	0
FUT9	10690	broad.mit.edu	37	6	96651899	96651899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:96651899G>A	ENST00000302103.5	+	3	1194	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	290					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)		CATTCATGTGGAAGATTATAA	0.388000													12	0					0	0	0.010729	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957351	50957351	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:50957351G>A	ENST00000357701.5	+	17	1875	c.1824G>A	c.(1822-1824)gcG>gcA	p.A608A		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	608	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	p.A608A(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TTGAGAGTGCGCAGCGGGAAG	0.602000													9	3					0	0	0.008291	0	0
SLC9B2	133308	broad.mit.edu	37	4	103971423	103971423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:103971423G>A	ENST00000394785.3	-	5	1190	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	SLC9B2_ENST00000339611.4_Missense_Mutation_p.R187C|SLC9B2_ENST00000503103.1_Missense_Mutation_p.R130C|SLC9B2_ENST00000503230.1_Missense_Mutation_p.R130C|SLC9B2_ENST00000362026.3_Missense_Mutation_p.R187C	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	187					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										AGGCCAGCACGAACCAGAATG	0.388000													14	14					0	0	0.004007	0	0
OTOP3	347741	broad.mit.edu	37	17	72937725	72937725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:72937725C>T	ENST00000328801.4	+	2	311	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	104						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CTGGGTGGCGCCTTCATCTGC	0.612000													14	27					0	0	0.004007	0	0
OR8D1	283159	broad.mit.edu	37	11	124180386	124180386	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:124180386G>A	ENST00000357821.2	-	1	347	c.277C>T	c.(277-279)Ctt>Ttt	p.L93F		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		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;0.0528)		TCAGAGTAAAGGATTGTATTC	0.453000													10	8					0	0	0.010729	0	0
LRRTM3	347731	broad.mit.edu	37	10	68688136	68688136	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:68688136A>C	ENST00000361320.4	+	2	2040	c.1462A>C	c.(1462-1464)Acg>Ccg	p.T488P	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	488						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						ACCCACCAACACGGAGACCAG	0.493000													12	21					0	0	0.013537	0	0
MYOM3	127294	broad.mit.edu	37	1	24389691	24389691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:24389691G>A	ENST00000330966.7	-	32	3866	c.3704C>T	c.(3703-3705)aCc>aTc	p.T1235I	MYOM3_ENST00000374434.3_Missense_Mutation_p.T1232I|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.T125I			Q5VTT5	MYOM3_HUMAN	myomesin 3	1232										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)		CCCTTCCTCGGTCCCCTGGAT	0.542000													22	28					0	0	0.003954	0	0
USP48	84196	broad.mit.edu	37	1	22078091	22078091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:22078091C>T	ENST00000308271.9	-	6	1331	c.683G>A	c.(682-684)aGa>aAa	p.R228K	USP48_ENST00000400301.1_Missense_Mutation_p.R228K|USP48_ENST00000421625.2_Missense_Mutation_p.R228K|USP48_ENST00000529637.1_Missense_Mutation_p.R228K	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	228					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CTTAGACTCTCTGCCACACTG	0.338000													20	24					0	0	0.012319	0	0
NLRP8	126205	broad.mit.edu	37	19	56485147	56485147	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:56485147G>A	ENST00000291971.3	+	7	2735	c.2664G>A	c.(2662-2664)tgG>tgA	p.W888*	NLRP8_ENST00000590542.1_Nonsense_Mutation_p.W869*	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	888						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)		AGCATATTTGGAATGCCCTGC	0.512000													41	49					0	0	0.010771	0	0
TTN	7273	broad.mit.edu	37	2	179473133	179473133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:179473133C>T	ENST00000589042.1	-	275	52701	c.52477G>A	c.(52477-52479)Gaa>Aaa	p.E17493K	TTN_ENST00000591111.1_Missense_Mutation_p.E15852K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E8428K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E8620K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8553K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14925K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15852	Ig-like 103.						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)			TCTTTTGGTTCATTCCATTTC	0.393000													9	7					0	0	0.004482	0	0
EIF4EBP1	1978	broad.mit.edu	37	8	37914620	37914620	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:37914620G>A	ENST00000338825.4	+	2	400	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	EIF4EBP1_ENST00000520657.1_3'UTR	NM_004095.3	NP_004086.1	Q13541	4EBP1_HUMAN	eukaryotic translation initiation factor 4E binding protein 1	56					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|TOR signaling cascade|translation	cytosol				endometrium(1)|lung(1)|ovary(1)|urinary_tract(1)	4	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)				ATCTATGACCGGAAATTCCTG	0.552000													15	25					0	0	0.004990	0	0
BDH1	622	broad.mit.edu	37	3	197260398	197260398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:197260398G>A	ENST00000392379.1	-	4	519	c.118C>T	c.(118-120)Ccg>Tcg	p.P40S	BDH1_ENST00000392378.2_Missense_Mutation_p.P40S|BDH1_ENST00000358186.2_Missense_Mutation_p.P40S|BDH1_ENST00000441275.1_5'UTR	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	40					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	CGGCCAATCGGGATAAAGGAA	0.572000													16	20					0	0	0.007413	0	0
MUC17	140453	broad.mit.edu	37	7	100678460	100678460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:100678460G>A	ENST00000306151.4	+	3	3827	c.3763G>A	c.(3763-3765)Gaa>Aaa	p.E1255K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1255	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCTGCTGAAACCAGTTC	0.502000													104	143					0	0	0.014410	0	0
CEP192	55125	broad.mit.edu	37	18	13096208	13096208	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:13096208C>T	ENST00000506447.1	+	36	6539	c.6459C>T	c.(6457-6459)ttC>ttT	p.F2153F	CEP192_ENST00000430049.2_Silent_p.F1678F|CEP192_ENST00000325971.8_Silent_p.F1557F|CEP192_ENST00000540847.2_3'UTR	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1748										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGGACGTTTCCAGATTGTGA	0.418000													20	24					0	0	0.008871	0	0
CSMD2	114784	broad.mit.edu	37	1	34090146	34090146	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:34090146G>A	ENST00000373381.4	-	35	5774	c.5598C>T	c.(5596-5598)atC>atT	p.I1866I	CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373380.1_Silent_p.I739I|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1826	CUB 11.					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)				CGGGGACCACGATCTTCCACA	0.647000													25	47					0	0	0.003330	0	0
HABP2	3026	broad.mit.edu	37	10	115343962	115343962	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:115343962G>A	ENST00000351270.3	+	11	1389	c.1293G>A	c.(1291-1293)gtG>gtA	p.V431V	HABP2_ENST00000542051.1_Silent_p.V405V	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	431	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CCAAATACGTGAAGACTGTGT	0.507000													22	28					0	0	0.012319	0	0
COG7	91949	broad.mit.edu	37	16	23417548	23417548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:23417548G>A	ENST00000307149.5	-	12	1696	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	504					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GGGGCTGCAGGAATCAGATAG	0.458000													30	28					0	0	0.010818	0	0
TOP3A	7156	broad.mit.edu	37	17	18205590	18205590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:18205590G>A	ENST00000321105.5	-	7	1016	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	TOP3A_ENST00000542570.1_Missense_Mutation_p.H173Y	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	268					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TTAATTCTGTGGAAGATTTCT	0.512000													16	22					0	0	0.008871	0	0
DUSP27	92235	broad.mit.edu	37	1	167095395	167095395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:167095395G>A	ENST00000361200.2	+	6	1193	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	DUSP27_ENST00000443333.1_Missense_Mutation_p.D343N|DUSP27_ENST00000271385.5_Missense_Mutation_p.D343N|DUSP27_ENST00000485151.1_3'UTR			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	343					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						CACCCTCATAGACGAGGAGGA	0.657000													5	17					0	0	0.001168	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118220535	118220535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:118220535C>T	ENST00000369230.3	+	6	769	c.623C>T	c.(622-624)cCc>cTc	p.P208L		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	208					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AGGCTAGACCCCTCGGATGCC	0.443000													25	22					0	0	0.003330	0	0
BPIFB2	80341	broad.mit.edu	37	20	31606511	31606511	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:31606511G>A	ENST00000170150.3	+	9	933	c.738G>A	c.(736-738)agG>agA	p.R246R		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	246						extracellular region	lipid binding										TGTTGCCAAGGCATGTGGGTA	0.627000													64	69					0	0	0.014410	0	0
ADARB1	104	broad.mit.edu	37	21	46595714	46595714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr21:46595714C>T	ENST00000539173.1	+	4	533	c.98C>T	c.(97-99)cCt>cTt	p.P33L	ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000389863.4_Missense_Mutation_p.P33L|ADARB1_ENST00000360697.3_Missense_Mutation_p.P33L|ADARB1_ENST00000348831.4_Missense_Mutation_p.P33L	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	33					adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		GGCAGCACACCTGGGCCTGGC	0.607000													50	78					0	0	0.014410	0	0
MSH3	4437	broad.mit.edu	37	5	80074565	80074565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:80074565C>T	ENST00000265081.6	+	17	2425	c.2345C>T	c.(2344-2346)tCt>tTt	p.S782F		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	782					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CGCTTTCACTCTCCTTTTATT	0.403000								Mismatch excision repair (MMR)					23	33					0	0	0.003954	0	0
SALL1	6299	broad.mit.edu	37	16	51172844	51172844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:51172844G>A	ENST00000440970.1	-	2	3429	c.2998C>T	c.(2998-3000)Cct>Tct	p.P1000S	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P1097S|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1097					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)			CTGTCCTGAGGAGAAACATGC	0.572000													22	6					0	0	0.004656	0	0
ABL1	25	broad.mit.edu	37	9	133755498	133755498	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:133755498C>T	ENST00000318560.5	+	9	1848	c.1467C>T	c.(1465-1467)atC>atT	p.I489I		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	489	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TTGCTGAAATCCACCAAGCCT	0.537000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								37	51					0	0	0.010771	0	0
VPS13B	157680	broad.mit.edu	37	8	100861088	100861088	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:100861088G>A	ENST00000358544.2	+	55	10213	c.10102G>A	c.(10102-10104)Gga>Aga	p.G3368R	VPS13B_ENST00000357162.2_Missense_Mutation_p.G3343R|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3368					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)			GGCCCCAGAAGGAAAAGCAGG	0.398000													30	22					0	0	0.006320	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42398370	42398370	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:42398370C>T	ENST00000599846.1	+	9	860	c.735C>T	c.(733-735)ttC>ttT	p.F245F	ARHGEF1_ENST00000347545.4_Silent_p.F212F|ARHGEF1_ENST00000337665.4_Silent_p.F260F|ARHGEF1_ENST00000354532.3_Silent_p.F245F|ARHGEF1_ENST00000378152.4_Silent_p.F227F			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	245					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GGAACTTCTTCCGGAAAAAGG	0.577000													11	15					0	0	0.001855	0	0
RPH3AL	9501	broad.mit.edu	37	17	171067	171067	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:171067T>A	ENST00000323434.8	-	4	814	c.217A>T	c.(217-219)Atc>Ttc	p.I73F	RPH3AL_ENST00000536489.2_Missense_Mutation_p.I73F|RPH3AL_ENST00000331302.7_Missense_Mutation_p.I73F	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	73	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CCTCACCCGATTCTCTGCTGC	0.682000													38	33					0	0	0.010771	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420404	55420404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:55420404G>A	ENST00000242994.3	+	2	559	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	61	Asp/Glu-rich (acidic).				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						agaagaagaggaagaagaTGG	0.473000													3	8					0	0	0.009096	0	0
VPS13B	157680	broad.mit.edu	37	8	100861089	100861089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:100861089G>A	ENST00000358544.2	+	55	10214	c.10103G>A	c.(10102-10104)gGa>gAa	p.G3368E	VPS13B_ENST00000357162.2_Missense_Mutation_p.G3343E|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3368					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)			GCCCCAGAAGGAAAAGCAGGA	0.398000													30	21					0	0	0.006320	0	0
RBBP8	5932	broad.mit.edu	37	18	20529644	20529644	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:20529644C>T	ENST00000399722.2	+	4	567	c.216C>T	c.(214-216)gtC>gtT	p.V72V	RBBP8_ENST00000399725.2_Silent_p.V72V|RBBP8_ENST00000360790.5_Silent_p.V72V|RBBP8_ENST00000327155.5_Silent_p.V72V	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	72					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AGCAGAAAGTCCTTCATGAAA	0.343000								Homologous recombination					31	40					0	0	0.003271	0	0
WDR24	84219	broad.mit.edu	37	16	736754	736754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:736754C>T	ENST00000293883.4	-	3	2081	c.1322G>A	c.(1321-1323)gGc>gAc	p.G441D	WDR24_ENST00000248142.6_Missense_Mutation_p.G571D	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	571										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CTGGTTGCGGCCAAGCTCTCG	0.662000													21	23					0	0	0.004656	0	0
TNXB	7148	broad.mit.edu	37	6	32030254	32030254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:32030254C>T	ENST00000375244.3	-	20	7049	c.6848G>A	c.(6847-6849)gGa>gAa	p.G2283E	TNXB_ENST00000375247.2_Missense_Mutation_p.G2283E			P22105	TENX_HUMAN	tenascin XB	2353	Fibronectin type-III 15.				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						TTCATCCTTTCCTGGGGCTGC	0.582000													223	219					0	0	0.014410	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215010	140215010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140215010C>T	ENST00000525929.1	+	1	1042	c.1042C>T	c.(1042-1044)Cca>Tca	p.P348S	PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P348S|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAATGCTCCACAGTTGAC	0.498000													38	41					0	0	0.004878	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711128	140711128	+	Missense_Mutation	SNP	C	C	T	rs145926133		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140711128C>T	ENST00000517417.1	+	1	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R293C	NM_018912.2	NP_061735.1												p.R293C(2)		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)			CCAAATATTTCGTTTAGATTC	0.428000													18	16					0	0	0.007413	0	0
AOC1	26	broad.mit.edu	37	7	150554372	150554372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:150554372G>A	ENST00000493429.1	+	4	1398	c.814G>A	c.(814-816)Ggg>Agg	p.G272R	AOC1_ENST00000360937.4_Missense_Mutation_p.G272R|AOC1_ENST00000416793.2_Missense_Mutation_p.G272R|AOC1_ENST00000467291.1_Missense_Mutation_p.G272R					amine oxidase, copper containing 1																		TGGGGGCAAGGGGCATGACAG	0.662000													4	7					0	0	0.009096	0	0
RAB4A	5867	broad.mit.edu	37	1	229438698	229438698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:229438698C>T	ENST00000366690.4	+	7	839	c.631C>T	c.(631-633)Ccg>Tcg	p.P211S	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	206							GDP binding|GTP binding|GTPase activity	p.P211S(1)		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)				CGCACAGGCCCCGAACGCTCA	0.577000													24	110					0	0	0.004656	0	0
MS4A14	84689	broad.mit.edu	37	11	60183826	60183826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:60183826C>T	ENST00000300187.6	+	5	1662	c.1385C>T	c.(1384-1386)tCa>tTa	p.S462L	MS4A14_ENST00000395005.2_Missense_Mutation_p.S445L|MS4A14_ENST00000531783.1_Missense_Mutation_p.S495L|MS4A14_ENST00000531787.1_Missense_Mutation_p.S350L	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	462	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GATATTAGATCAGAAGTTATG	0.398000													17	18					0	0	0.004990	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410418	105410418	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:105410418G>A	ENST00000333244.5	-	7	11489	c.11370C>T	c.(11368-11370)tcC>tcT	p.S3790S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3790						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCGGCCAGGGACAGGTCCC	0.577000													76	110					0	0	0.014410	0	0
LAD1	3898	broad.mit.edu	37	1	201352246	201352246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:201352246C>T	ENST00000391967.2	-	7	1643	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	LAD1_ENST00000367313.3_Missense_Mutation_p.E462K|LAD1_ENST00000488842.1_5'UTR	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	448						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCCGCCAGTTCCTTCTCAAAG	0.592000													39	161					0	0	0.005524	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24259437	24259437	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:24259437C>T	ENST00000538205.1	+	13	1462	c.915C>T	c.(913-915)ttC>ttT	p.F305F	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.F305F|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.F384F	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	384	Peptidase M12B.				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)		GTTCAAAATTCCCAAAGGATT	0.363000													15	28					0	0	0.004007	0	0
OPRL1	4987	broad.mit.edu	37	20	62729885	62729885	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:62729885C>T	ENST00000349451.3	+	6	1258	c.846C>T	c.(844-846)ttC>ttT	p.F282F	OPRL1_ENST00000355631.4_Silent_p.F282F|OPRL1_ENST00000336866.2_Silent_p.F282F	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	282					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TCCAGGTCTTCGTGCTGGCCC	0.667000													12	16					0	0	0.010729	0	0
OTOF	9381	broad.mit.edu	37	2	26688892	26688892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:26688892G>A	ENST00000272371.2	-	37	4679	c.4553C>T	c.(4552-4554)gCc>gTc	p.A1518V	OTOF_ENST00000403946.3_Missense_Mutation_p.A1518V|OTOF_ENST00000402415.3_Missense_Mutation_p.A828V|OTOF_ENST00000338581.6_Missense_Mutation_p.A751V|OTOF_ENST00000339598.3_Missense_Mutation_p.A751V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1518	C2 4.				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)					TAGCCGGATGGCGATGTAGGG	0.592000													31	28					0	0	0.008361	0	0
OR8B4	283162	broad.mit.edu	37	11	124294361	124294361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:124294361G>A	ENST00000356130.3	-	1	428	c.407C>T	c.(406-408)tCc>tTc	p.S136F		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GACCCTTGGGGACATGGTGAC	0.507000													11	18					0	0	0.013537	0	0
F7	2155	broad.mit.edu	37	13	113773050	113773050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:113773050G>A	ENST00000375581.3	+	9	1164	c.1129G>A	c.(1129-1131)Gtg>Atg	p.V377M	F7_ENST00000541084.1_Missense_Mutation_p.V308M|F7_ENST00000346342.3_Missense_Mutation_p.V355M	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	377	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GTCACGGAAGGTGGGAGACTC	0.642000													17	14					0	0	0.007413	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024424	55024424	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:55024424G>A	ENST00000324000.3	+	3	2617	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	195					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CGCCCCTACGGAGGCTTTCCA	0.433000													17	22					0	0	0.007413	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277621	140277621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:140277621G>A	ENST00000458420.3	+	12	2153	c.1963G>A	c.(1963-1965)Gga>Aga	p.G655R		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	655					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AAGTGCCAGGGGAGTGACCCT	0.567000										HNSCC(16;0.037)			20	30					0	0	0.012319	0	0
ZBTB34	403341	broad.mit.edu	37	9	129642869	129642869	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:129642869C>T	ENST00000319119.4	+	2	1276	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	ZBTB34_ENST00000373452.2_Silent_p.L393L	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						ACATGCGACTCCATATGGGAA	0.493000													10	19					0	0	0.006214	0	0
FSIP2	401024	broad.mit.edu	37	2	186673610	186673610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:186673610G>A	ENST00000343098.5	+	17	19844	c.19844G>A	c.(19843-19845)gGa>gAa	p.G6615E	FSIP2_ENST00000424728.1_Missense_Mutation_p.G6526E	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						CCACATGTTGGAAAAAAACCA	0.308000													16	29					0	0	0.004990	0	0
COL1A1	1277	broad.mit.edu	37	17	48266284	48266284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:48266284G>A	ENST00000225964.5	-	41	3143	c.3025C>T	c.(3025-3027)Cct>Tct	p.P1009S		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1009	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GATTCACCAGGGGGTCCAGCC	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						31	41					0	0	0.003271	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964423	32964423	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:32964423G>A	ENST00000321639.5	+	10	2455	c.2127G>A	c.(2125-2127)aaG>aaA	p.K709K		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	709						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCAAACGCAAGAGTGTGCTCG	0.657000													22	36					0	0	0.014323	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111816	142111816	+	RNA	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:142111816C>T	ENST00000390378.1	-	0	43																											CTCACCTTCTCCTAGGGGACA	0.627000													9	19					0	0	0.006214	0	0
CYP21A2	1589	broad.mit.edu	37	6	32007573	32007573	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:32007573G>A	ENST00000418967.2	+	6	857	c.699G>A	c.(697-699)aaG>aaA	p.K233K	CYP21A2_ENST00000435122.2_Silent_p.K203K	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	232			R -> K (in AH3).		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						CCATAGAGAAGAGGGATCACA	0.617000													61	327					0	0	0.014410	0	0
LAMB3	3914	broad.mit.edu	37	1	209799103	209799103	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:209799103G>A	ENST00000391911.1	-	13	2255	c.1866C>T	c.(1864-1866)tcC>tcT	p.S622S	LAMB3_ENST00000356082.4_Silent_p.S622S|LAMB3_ENST00000367030.3_Silent_p.S622S	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	622	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTAGGATCCGGGAGGCCAGGC	0.642000													69	47					0	0	0.014410	0	0
TGIF2	60436	broad.mit.edu	37	20	35219682	35219682	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:35219682C>T	ENST00000373874.2	+	3	761	c.562C>T	c.(562-564)Cca>Tca	p.P188S	TGIF2_ENST00000373872.4_Missense_Mutation_p.P188S|RP5-977B1.11_ENST00000561134.1_RNA|TGIF2-C20orf24_ENST00000558530.1_Intron	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	188	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				ACCCACACCCCCAGAGCAGGA	0.612000													30	37					0	0	0.009535	0	0
ZNF644	84146	broad.mit.edu	37	1	91405082	91405082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:91405082G>A	ENST00000370440.1	-	3	2046	c.1829C>T	c.(1828-1830)tCa>tTa	p.S610L	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.S610L|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	610					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACATGATGATGAATGCAAGTA	0.348000													31	40					0	0	0.008361	0	0
SARDH	1757	broad.mit.edu	37	9	136597651	136597651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:136597651C>T	ENST00000371872.4	-	3	661	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	SARDH_ENST00000298628.5_Missense_Mutation_p.R135Q|SARDH_ENST00000439388.1_Missense_Mutation_p.R135Q|SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000371867.1_Missense_Mutation_p.R46Q	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	135					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CTCCAGCTCCCGGCTCACCAC	0.677000													35	51					0	0	0.006999	0	0
LAPTM4B	55353	broad.mit.edu	37	8	98828297	98828297	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:98828297C>T	ENST00000445593.2	+	4	1250	c.570C>T	c.(568-570)gcC>gcT	p.A190A	LAPTM4B_ENST00000521545.2_Silent_p.A99A	NM_018407.4	NP_060877.3	Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	243					transport	endomembrane system|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			AACGCGCAGCCTGGATCATCC	0.328000													33	45					0	0	0.012213	0	0
HELLS	3070	broad.mit.edu	37	10	96333741	96333741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:96333741C>T	ENST00000348459.5	+	8	607	c.502C>T	c.(502-504)Ctc>Ttc	p.L168F	HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394044.1_Missense_Mutation_p.L168F|HELLS_ENST00000371332.4_Missense_Mutation_p.L168F|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.L168F	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	168					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		CTCTACTAATCTCTGTGTGGA	0.323000													24	39					0	0	0.004656	0	0
CCDC19	25790	broad.mit.edu	37	1	159863049	159863049	+	Missense_Mutation	SNP	T	T	A	rs144965039		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:159863049T>A	ENST00000368099.4	-	2	114	c.50A>T	c.(49-51)aAc>aTc	p.N17I	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	17						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CCTTGACCTGTTGGAAGCGGC	0.522000													146	62					0	0	0.014410	0	0
VARS	7407	broad.mit.edu	37	6	31762896	31762896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:31762896C>T	ENST00000375663.3	-	2	539	c.99G>A	c.(97-99)tgG>tgA	p.W33*	VARS_ENST00000444930.2_Intron	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	33					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGGCTCCTCCCCATCCGGGAC	0.706000													124	168					0	0	0.014410	0	0
ADAM28	10863	broad.mit.edu	37	8	24201063	24201063	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:24201063C>T	ENST00000265769.4	+	18	2066	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Silent_p.I399I	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	652	EGF-like.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGGATGGATCCCTCCCGACT	0.488000													11	21					0	0	0.001855	0	0
RHAG	6005	broad.mit.edu	37	6	49586937	49586937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:49586937C>T	ENST00000371175.4	-	2	322	c.296G>A	c.(295-297)gGa>gAa	p.G99E	RHAG_ENST00000229810.7_Missense_Mutation_p.G99E	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	99					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TTGCAGGATTCCCTGTACAAT	0.458000													22	67					0	0	0.002780	0	0
SRRM1	10250	broad.mit.edu	37	1	24979045	24979045	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:24979045C>T	ENST00000323848.9	+	7	1161	c.846C>T	c.(844-846)tcC>tcT	p.S282S	SRRM1_ENST00000537199.1_Silent_p.S151S|SRRM1_ENST00000447431.2_Silent_p.S282S|SRRM1_ENST00000374389.4_Silent_p.S282S|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	282	Arg-rich.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GGTCACGCTCCAAATCAAGAT	0.498000													14	20					0	0	0.001855	0	0
ZNF836	162962	broad.mit.edu	37	19	52659923	52659923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:52659923G>A	ENST00000322146.8	-	5	1534	c.1013C>T	c.(1012-1014)aCc>aTc	p.T338I	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.T338I	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTGTTTGAAGGTTTTCCCACA	0.388000													6	9					0	0	0.001168	0	0
CEACAM5	1048	broad.mit.edu	37	19	42219003	42219003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:42219003G>A	ENST00000221992.6	+	3	652	c.538G>A	c.(538-540)Gta>Ata	p.V180I	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.V180I|CEACAM5_ENST00000398599.4_Missense_Mutation_p.V180I	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	180	Ig-like 2.					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)		CCTGTGGTGGGTAAACAATCA	0.542000													36	69					0	0	0.014410	0	0
GRID2	2895	broad.mit.edu	37	4	94411873	94411873	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:94411873T>C	ENST00000282020.4	+	12	2200	c.1942T>C	c.(1942-1944)Tac>Cac	p.Y648H	GRID2_ENST00000510992.1_Missense_Mutation_p.Y553H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	648					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)	TATCTCATCTTACACGGCAAA	0.438000													40	29					0	0	0.006999	0	0
LRRC10	376132	broad.mit.edu	37	12	70003892	70003892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:70003892C>T	ENST00000361484.3	-	1	1050	c.727G>A	c.(727-729)Gag>Aag	p.E243K		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	243						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TCTGGCGTCTCCTCTGCCCAT	0.582000													15	25					0	0	0.003163	0	0
OR5B17	219965	broad.mit.edu	37	11	58125899	58125899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:58125899G>A	ENST00000357377.3	-	1	643	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S215F(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAACAGATAGGAAATCAAGGT	0.373000													11	13					0	0	0.013537	0	0
MUC17	140453	broad.mit.edu	37	7	100678247	100678247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:100678247C>T	ENST00000306151.4	+	3	3614	c.3550C>T	c.(3550-3552)Cct>Tct	p.P1184S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1184	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCAACAACTCCTGTGGACTC	0.527000													74	179					0	0	0.014410	0	0
DEFB112	245915	broad.mit.edu	37	6	50011342	50011342	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:50011342G>A	ENST00000322246.4	-	2	287	c.288C>T	c.(286-288)atC>atT	p.I96I		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	96					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					AGTCCTTTGGGATCCAATTAT	0.418000													36	26					0	0	0.004878	0	0
NPTX2	4885	broad.mit.edu	37	7	98254433	98254433	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:98254433G>A	ENST00000265634.3	+	3	1008	c.843G>A	c.(841-843)ctG>ctA	p.L281L		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	281	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGATCGTGCTGATCGAGTGGG	0.642000													30	28					0	0	0.009535	0	0
SPOCK3	50859	broad.mit.edu	37	4	167663193	167663193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:167663193C>T	ENST00000357154.3	-	10	1095	c.958G>A	c.(958-960)Gag>Aag	p.E320K	SPOCK3_ENST00000510741.1_Missense_Mutation_p.E277K|SPOCK3_ENST00000506886.1_Missense_Mutation_p.E320K|SPOCK3_ENST00000512681.1_Missense_Mutation_p.E222K|SPOCK3_ENST00000502330.1_Missense_Mutation_p.E320K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.E222K|SPOCK3_ENST00000535728.1_Missense_Mutation_p.E188K|SPOCK3_ENST00000504953.1_Missense_Mutation_p.E317K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.E317K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.E269K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.E224K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541354.1_Missense_Mutation_p.E200K|SPOCK3_ENST00000357545.4_Missense_Mutation_p.E317K|SPOCK3_ENST00000511531.1_Missense_Mutation_p.E320K	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	320	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TTGCTGAGCTCAGTCTGGCAA	0.378000													25	33					0	0	0.003330	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702777	60702777	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:60702777G>A	ENST00000005286.4	+	10	2046	c.1893G>A	c.(1891-1893)acG>acA	p.T631T	TMEM132A_ENST00000453848.2_Silent_p.T630T	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	630	Binds to HSPA5/GRP78 (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGGCTGTGACGGACGACAAGG	0.647000													8	10					0	0	0.006214	0	0
PDE1A	5136	broad.mit.edu	37	2	183104852	183104852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:183104852C>T	ENST00000435564.1	-	3	583	c.383G>A	c.(382-384)gGa>gAa	p.G128E	PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Missense_Mutation_p.G94E|PDE1A_ENST00000358139.2_Missense_Mutation_p.G128E|PDE1A_ENST00000331935.6_Missense_Mutation_p.G128E|PDE1A_ENST00000456212.1_Missense_Mutation_p.G128E|PDE1A_ENST00000410103.1_Missense_Mutation_p.G128E|PDE1A_ENST00000409365.1_Missense_Mutation_p.G112E|PDE1A_ENST00000536095.1_Missense_Mutation_p.G24E|PDE1A_ENST00000351439.5_Missense_Mutation_p.G112E	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	128					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CACAAAAATTCCAGCTTGAAC	0.388000													24	49					0	0	0.003954	0	0
PTX4	390667	broad.mit.edu	37	16	1536065	1536065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:1536065C>T	ENST00000447419.2	-	3	1337	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	PTX4_ENST00000293922.1_Missense_Mutation_p.E433K|PTX4_ENST00000440447.2_3'UTR			Q96A99	PTX4_HUMAN	pentraxin 4, long	438	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TTTGCAACTTCCCCGGGAACC	0.622000													16	26					0	0	0.004007	0	0
ITGA10	8515	broad.mit.edu	37	1	145533060	145533060	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:145533060G>A	ENST00000369304.3	+	11	1330	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G	ITGA10_ENST00000539363.1_Silent_p.G242G|ITGA10_ENST00000538811.1_Silent_p.G254G	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	385					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CACAGGATGGGATTCTTTTTG	0.532000													25	84					0	0	0.005443	0	0
CD163	9332	broad.mit.edu	37	12	7639347	7639347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:7639347G>A	ENST00000359156.4	-	10	2408	c.2206C>T	c.(2206-2208)Cat>Tat	p.H736Y	CD163_ENST00000541972.1_Missense_Mutation_p.H724Y|CD163_ENST00000432237.2_Missense_Mutation_p.H736Y|CD163_ENST00000396620.3_Missense_Mutation_p.H769Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	736	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GAGCCCTCATGATAGATCTCT	0.517000													25	32					0	0	0.007291	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524126	24524126	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:24524126G>A	ENST00000376862.3	+	2	1026	c.393G>A	c.(391-393)ggG>ggA	p.G131G		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	131					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ACCCGGATGGGAAGTTCATTG	0.597000													47	46					0	0	0.014410	0	0
MINK1	50488	broad.mit.edu	37	17	4798781	4798781	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:4798781C>T	ENST00000355280.6	+	26	3418	c.3222C>T	c.(3220-3222)acC>acT	p.T1074T	MINK1_ENST00000453408.3_Silent_p.T1054T|MINK1_ENST00000347992.7_Silent_p.T1045T	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	1074	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TGCTCATCACCATCTCAGGTA	0.617000													13	15					0	0	0.002450	0	0
SCN4A	6329	broad.mit.edu	37	17	62022096	62022096	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:62022096G>A	ENST00000435607.1	-	21	3925	c.3849C>T	c.(3847-3849)tcC>tcT	p.S1283S	SCN4A_ENST00000578147.1_Silent_p.S1283S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1283					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGTGAAGAAGGAGCCAAAGA	0.547000													4	8					0	0	0.009096	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734369	28734369	+	RNA	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:28734369C>T	ENST00000550043.1	+	0	774																											TGACTTGGTTCGTTAGTGGAT	0.473000													7	11					0	0	0.001984	0	0
AC015849.16	0	broad.mit.edu	37	17	34233525	34233525	+	RNA	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:34233525G>A	ENST00000587132.1	-	0	4502																											AGGCTGAGCTGGGGCATCTTG	0.507000													10	13					0	0	0.006214	0	0
PCDH18	54510	broad.mit.edu	37	4	138442490	138442490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:138442490G>A	ENST00000344876.4	-	4	3487	c.3101C>T	c.(3100-3102)tCc>tTc	p.S1034F	PCDH18_ENST00000510305.1_Missense_Mutation_p.S245F|PCDH18_ENST00000412923.2_Missense_Mutation_p.S1033F|PCDH18_ENST00000511115.1_Missense_Mutation_p.S214F|PCDH18_ENST00000507846.1_Missense_Mutation_p.S813F	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1034	Interaction with DAB1 (By similarity).				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)					GCGCTCCAGGGAGTTGGACCG	0.562000													18	24					0	0	0.006122	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77354998	77354998	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:77354998G>A	ENST00000282849.5	-	15	2683	c.2265C>T	c.(2263-2265)taC>taT	p.Y755Y		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	755	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCTGGTTGAGGTACAGGCCTT	0.398000													30	1					0	0	0.013726	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22884668	22884668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:22884668G>A	ENST00000276431.4	-	7	1198	c.914C>T	c.(913-915)cCc>cTc	p.P305L	TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.P276L|TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.P125L	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	305					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TGACTCCCCGGGGGACAACAT	0.562000													18	19					0	0	0.004990	0	0
NPHS2	7827	broad.mit.edu	37	1	179523637	179523637	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:179523637C>T	ENST00000367615.4	-	6	836	c.768G>A	c.(766-768)tgG>tgA	p.W256*	AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Nonsense_Mutation_p.W188*	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	256					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTTTGATTCCCCAAATACAGG	0.408000													22	95					0	0	0.004656	0	0
INHA	3623	broad.mit.edu	37	2	220439751	220439751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:220439751C>T	ENST00000243786.2	+	2	784	c.604C>T	c.(604-606)Ctc>Ttc	p.L202F	INHA_ENST00000489456.1_3'UTR	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	202					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCGCTGTCCCCTCTGTACCTG	0.682000													27	24					0	0	0.005443	0	0
IMPDH1	3614	broad.mit.edu	37	7	128040203	128040203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:128040203G>A	ENST00000338791.6	-	9	1170	c.820C>T	c.(820-822)Cca>Tca	p.P274S	IMPDH1_ENST00000378717.4_Missense_Mutation_p.P205S|IMPDH1_ENST00000354269.5_Missense_Mutation_p.P264S|IMPDH1_ENST00000348127.6_Missense_Mutation_p.P238S|IMPDH1_ENST00000343214.4_Missense_Mutation_p.P164S|IMPDH1_ENST00000470772.1_Missense_Mutation_p.P188S|IMPDH1_ENST00000480861.1_Missense_Mutation_p.P184S|IMPDH1_ENST00000496200.1_Missense_Mutation_p.P164S|IMPDH1_ENST00000419067.2_Missense_Mutation_p.P241S	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	189				LD -> FH (in Ref. 1; AAA36114).	GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	ACACCTGCTGGAGCCACCACC	0.567000													59	75					0	0	0.014410	0	0
DMBT1	1755	broad.mit.edu	37	10	124358464	124358464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:124358464G>A	ENST00000338354.3	+	26	3237	c.3131G>A	c.(3130-3132)gGa>gAa	p.G1044E	DMBT1_ENST00000368956.2_Missense_Mutation_p.G545E|DMBT1_ENST00000330163.4_Missense_Mutation_p.G545E|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1034E|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1044E|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1034E			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1044	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCAGCCCCAGGAAATGCCCGG	0.612000													86	113					0	0	0.014410	0	0
LEFTY2	7044	broad.mit.edu	37	1	226127586	226127586	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:226127586C>T	ENST00000366820.5	-	2	715	c.367G>A	c.(367-369)Gag>Aag	p.E123K	LEFTY2_ENST00000420304.2_Intron|LEFTY2_ENST00000474493.1_5'UTR	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	123					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GGGACCGGCTCCTGGAAGAGC	0.746000													10	3					0	0	0.006214	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635679	141635679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:141635679C>T	ENST00000546910.1	-	5	476	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000438351.1_Missense_Mutation_p.E71K|CLEC5A_ENST00000551012.2_Missense_Mutation_p.E71K|CLEC5A_ENST00000439991.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	94	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TCCCTGCTTTCATTCCAAGAT	0.428000													28	32					0	0	0.007291	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599049	136599049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:136599049C>T	ENST00000531224.1	-	4	1222	c.970G>A	c.(970-972)Gat>Aat	p.D324N	BCLAF1_ENST00000392348.2_Missense_Mutation_p.D322N|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D322N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D324N|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D322N|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D324N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	324					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTCCACCATCAGGATAAAAC	0.388000													12	40					0	0	0.003163	0	0
EPHB6	2051	broad.mit.edu	37	7	142568295	142568295	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:142568295C>T	ENST00000392957.2	+	19	3601	c.2814C>T	c.(2812-2814)gcC>gcT	p.A938A	EPHB6_ENST00000442129.1_Silent_p.A938A|EPHB6_ENST00000411471.2_Silent_p.A661A|EPHB6_ENST00000476059.1_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	938						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTTCCCAGGCCCTTCTGACCC	0.567000													38	43					0	0	0.006999	0	0
NPHS1	4868	broad.mit.edu	37	19	36333297	36333297	+	Silent	SNP	G	G	A	rs114635782	by1000genomes	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:36333297G>A	ENST00000378910.5	-	18	2489	c.2490C>T	c.(2488-2490)ctC>ctT	p.L830L	NPHS1_ENST00000353632.6_Silent_p.L830L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	830	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAACAAGACGGAGCAGCCGTC	0.582000													18	35					0	0	0.006122	0	0
WDR72	256764	broad.mit.edu	37	15	54025359	54025359	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:54025359C>T	ENST00000396328.1	-	2	228		c.e2-1		WDR72_ENST00000557913.1_Splice_Site|WDR72_ENST00000360509.5_Splice_Site|WDR72_ENST00000559418.1_5'UTR	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72											NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGGGCGAATCCTGACATACAA	0.458000													17	23					0	0	0.004990	0	0
ZNF532	55205	broad.mit.edu	37	18	56587575	56587575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:56587575C>T	ENST00000336078.4	+	4	2832	c.2056C>T	c.(2056-2058)Cca>Tca	p.P686S	ZNF532_ENST00000591808.1_Missense_Mutation_p.P686S|ZNF532_ENST00000591230.1_Missense_Mutation_p.P686S|ZNF532_ENST00000591083.1_Missense_Mutation_p.P686S|ZNF532_ENST00000589288.1_Missense_Mutation_p.P686S	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AAAGCCAGTCCCAGCAGATCA	0.468000													39	42					0	0	0.009718	0	0
MYO3B	140469	broad.mit.edu	37	2	171258164	171258164	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:171258164C>T	ENST00000334231.6	+	18	2119	c.2119C>T	c.(2119-2121)Cgc>Tgc	p.R707C	MYO3B_ENST00000408978.4_Missense_Mutation_p.R698C|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.R698C			Q8WXR4	MYO3B_HUMAN	myosin IIIB	698	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GATTGTGAATCGCATTAATAC	0.547000													19	18					0	0	0.007413	0	0
RSG1	79363	broad.mit.edu	37	1	16559008	16559008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:16559008G>A	ENST00000375599.3	-	4	943	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	175	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						AGGATACTTGGAGCCGATGAC	0.582000													6	19					0	0	0.001168	0	0
EPHB6	2051	broad.mit.edu	37	7	142568296	142568296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:142568296C>T	ENST00000392957.2	+	19	3602	c.2815C>T	c.(2815-2817)Ctt>Ttt	p.L939F	EPHB6_ENST00000442129.1_Missense_Mutation_p.L939F|EPHB6_ENST00000411471.2_Missense_Mutation_p.L662F|EPHB6_ENST00000476059.1_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	939						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TTCCCAGGCCCTTCTGACCCC	0.562000													39	43					0	0	0.007835	0	0
RNF43	54894	broad.mit.edu	37	17	56434905	56434905	+	Silent	SNP	A	A	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:56434905A>T	ENST00000584437.1	-	8	4187	c.2232T>A	c.(2230-2232)ccT>ccA	p.P744P	RNF43_ENST00000581868.1_Silent_p.P617P|RNF43_ENST00000407977.2_Silent_p.P744P|RNF43_ENST00000577716.1_Silent_p.P744P|RNF43_ENST00000577625.1_Silent_p.P617P|RNF43_ENST00000500597.2_Silent_p.P703P|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Silent_p.P703P			Q68DV7	RNF43_HUMAN	ring finger protein 43	744	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCATTCAGAAGGCCCCTCCC	0.602000													22	41					0	0	0.014323	0	0
DBX2	440097	broad.mit.edu	37	12	45429837	45429837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	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													18	17					0	0	0.012319	0	0
ZNF208	7757	broad.mit.edu	37	19	22155343	22155343	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:22155343C>T	ENST00000397126.4	-	4	2641	c.2493G>A	c.(2491-2493)aaG>aaA	p.K831K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTGTAGGGCTTTTCTCCAG	0.373000													17	22					0	0	0.007413	0	0
ACTN2	88	broad.mit.edu	37	1	236906244	236906244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:236906244G>A	ENST00000366578.4	+	11	1322	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	ACTN2_ENST00000542672.1_Missense_Mutation_p.E386K|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	386					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAAGGGTTACGAGGAGTGGTT	0.542000													30	62					0	0	0.008361	0	0
PMS1	5378	broad.mit.edu	37	2	190717402	190717402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:190717402C>T	ENST00000441310.2	+	7	954	c.721C>T	c.(721-723)Cca>Tca	p.P241S	PMS1_ENST00000409823.3_Missense_Mutation_p.P202S|PMS1_ENST00000447232.2_Missense_Mutation_p.P241S|PMS1_ENST00000418224.3_Missense_Mutation_p.P65S|PMS1_ENST00000432292.3_Missense_Mutation_p.P65S|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	241					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TGGATTTCTTCCAAAGTGTGA	0.338000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					29	36					0	0	0.007291	0	0
IGSF1	3547	broad.mit.edu	37	X	130412483	130412483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:130412483C>T	ENST00000370904.1	-	18	2876	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	IGSF1_ENST00000370903.3_Missense_Mutation_p.E670K|IGSF1_ENST00000370910.1_Missense_Mutation_p.E656K|IGSF1_ENST00000361420.3_Missense_Mutation_p.E665K			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	665	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACAGCCATCTCCTCCCATGAA	0.637000													34	2					0	0	0.003755	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895296	45895296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:45895296G>A	ENST00000418234.2	-	8	1735	c.1657C>T	c.(1657-1659)Cgt>Tgt	p.R553C	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.R553C	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	553	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)		CCCCCATGACGATGGAAGAGG	0.692000													29	39					0	0	0.013726	0	0
TRIM59	286827	broad.mit.edu	37	3	160156874	160156874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:160156874C>T	ENST00000543469.1	-	2	312	c.98G>A	c.(97-99)tGt>tAt	p.C33Y	TRIM59_ENST00000309784.4_Missense_Mutation_p.C33Y|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.C33Y			Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	33						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTTTTCCAAACAATTTCTACA	0.353000													19	21					0	0	0.006122	0	0
PLEK	5341	broad.mit.edu	37	2	68621305	68621305	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:68621305A>T	ENST00000234313.7	+	8	1092	c.913A>T	c.(913-915)Aat>Tat	p.N305Y		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	305	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GAGCAACTCAAATGGTAAGAT	0.458000													30	45					0	0	0.004289	0	0
DMRTC2	63946	broad.mit.edu	37	19	42351926	42351926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:42351926G>A	ENST00000269945.3	+	3	398	c.347G>A	c.(346-348)gGa>gAa	p.G116E	DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.G116E	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	116					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.G116V(1)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TTCAGAAAGGGAACCACTCAG	0.597000													7	2					0	0	0.001984	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737496	62737496	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:62737496A>G	ENST00000369768.1	-	1	1028	c.689T>C	c.(688-690)gTg>gCg	p.V230A		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	230						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TGTGTAGAGCACACAGATGGT	0.662000													17	14					0	0	0.004990	0	0
KIF26B	55083	broad.mit.edu	37	1	245704168	245704168	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:245704168G>A	ENST00000366518.4	+	2	227	c.123G>A	c.(121-123)ggG>ggA	p.G41G	KIF26B_ENST00000407071.2_Silent_p.G422G			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	422					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCTTCAGTGGGATTCTGCAGA	0.587000													28	87					0	0	0.007291	0	0
KRT8	3856	broad.mit.edu	37	12	53291251	53291251	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:53291251C>T	ENST00000552551.1	-	9	1845	c.1413G>A	c.(1411-1413)ggG>ggA	p.G471G	KRT8_ENST00000552150.1_Silent_p.G499G|KRT8_ENST00000546897.1_Silent_p.G471G|KRT8_ENST00000293308.6_Silent_p.G471G			P05787	K2C8_HUMAN	keratin 8	471	Tail.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACCAGCTTCCCATCACGTG	0.657000													19	38					0	0	0.014323	0	0
COL6A6	131873	broad.mit.edu	37	3	130282280	130282280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:130282280G>A	ENST00000358511.6	+	2	464	c.433G>A	c.(433-435)Gat>Aat	p.D145N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D145N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	145	Nonhelical region.|VWFA 1.				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						TGAGTCTGAGGATAATGTGGA	0.502000													13	20					0	0	0.001855	0	0
ADAM15	8751	broad.mit.edu	37	1	155028639	155028639	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:155028639C>T	ENST00000356955.2	+	9	929	c.828C>T	c.(826-828)aaC>aaT	p.N276N	ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000360674.4_Silent_p.N276N|ADAM15_ENST00000359280.4_Silent_p.N276N|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000271836.6_Silent_p.N276N|ADAM15_ENST00000449910.2_Silent_p.N276N|ADAM15_ENST00000447332.3_Silent_p.N260N|ADAM15_ENST00000355956.2_Silent_p.N276N|ADAM15_ENST00000368412.3_Silent_p.N276N|ADAM15_ENST00000531455.1_Silent_p.N286N	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	276	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCAGCCCAAACCCAGCTGTCA	0.612000													16	70					0	0	0.007413	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153314218	153314218	+	Silent	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:153314218T>C	ENST00000368739.3	-	6	856	c.498A>G	c.(496-498)gaA>gaG	p.E166E	PGLYRP4_ENST00000359650.5_Silent_p.E170E			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	170					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(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGATTAGGTTTTCCATGGCCG	0.557000													48	111					0	0	0.014410	0	0
SV2C	22987	broad.mit.edu	37	5	75427872	75427872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:75427872G>A	ENST00000502798.2	+	2	739	c.297G>A	c.(295-297)atG>atA	p.M99I	SV2C_ENST00000322285.7_Missense_Mutation_p.M99I	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	99					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCCCCAGTATGAACCAAGCGA	0.557000													9	12					0	0	0.004482	0	0
SLC35A2	7355	broad.mit.edu	37	X	48763720	48763720	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:48763720C>T	ENST00000376521.1	-	3	696	c.375G>A	c.(373-375)caG>caA	p.Q125Q	SLC35A2_ENST00000376512.1_Silent_p.Q125Q|SLC35A2_ENST00000413561.2_Silent_p.Q64Q|SLC35A2_ENST00000452555.2_Silent_p.Q153Q|SLC35A2_ENST00000376529.3_Silent_p.Q125Q|SLC35A2_ENST00000247138.5_Silent_p.Q125Q|SLC35A2_ENST00000376515.3_Silent_p.Q101Q|SLC35A2_ENST00000445167.2_Silent_p.Q125Q	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	125					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GGAGGTTATTCTGCAAGGTGT	0.552000													14	0					0	0	0.001855	0	0
SGMS1	259230	broad.mit.edu	37	10	52066985	52066985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:52066985G>A	ENST00000361781.2	-	11	2118	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	SGMS1_ENST00000429490.1_Nonsense_Mutation_p.R218*	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	393					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	p.R387*(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGGTAAGATCGAGGTACAATT	0.493000													15	16					0	0	0.003163	0	0
SCG3	29106	broad.mit.edu	37	15	51975550	51975550	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:51975550G>A	ENST00000220478.3	+	4	719	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	106					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		GTTGAATGTGGAAGATGTTGA	0.323000													35	61					0	0	0.004289	0	0
RELN	5649	broad.mit.edu	37	7	103389894	103389894	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:103389894A>C	ENST00000428762.1	-	6	794	c.635T>G	c.(634-636)cTg>cGg	p.L212R	RELN_ENST00000343529.5_Missense_Mutation_p.L212R|RELN_ENST00000424685.2_Missense_Mutation_p.L212R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	212					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)		ATTTAATTGCAGTTGGTGGTA	0.353000													27	46					0	0	0.009535	0	0
PRKG1	5592	broad.mit.edu	37	10	54040626	54040626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:54040626G>A	ENST00000373980.4	+	13	1898	c.1481G>A	c.(1480-1482)gGa>gAa	p.G494E	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.G197E|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.G467E|PRKG1_ENST00000401604.2_Missense_Mutation_p.G479E	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	479	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CATTCCAAAGGAATCATTTAC	0.438000													27	24					0	0	0.007291	0	0
PGA3	643834	broad.mit.edu	37	11	60971722	60971722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:60971722C>T	ENST00000325558.6	+	2	385	c.200C>T	c.(199-201)cCc>cTc	p.P67L		NM_001079807.1	NP_001073275.1			pepsinogen 3, group I (pepsinogen A)											endometrium(1)|lung(1)|ovary(1)|skin(2)	5						GATGAACAGCCCCTGGAGAAC	0.602000													40	65					0	0	0.011902	0	0
IRS1	3667	broad.mit.edu	37	2	227660787	227660787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:227660787G>A	ENST00000305123.4	-	1	3688	c.2668C>T	c.(2668-2670)Ccc>Tcc	p.P890S		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	890					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGCTCTTGGGCTCTGGAGGG	0.617000													36	25					0	0	0.003271	0	0
ADH1A	124	broad.mit.edu	37	4	100205629	100205629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:100205629G>A	ENST00000209668.2	-	5	607	c.494C>T	c.(493-495)tCg>tTg	p.S165L	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	165					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CTCTAGAGGCGAGGCTGCATC	0.478000													24	23					0	0	0.003330	0	0
SLC8A3	6547	broad.mit.edu	37	14	70527656	70527656	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:70527656C>T	ENST00000381269.2	-	3	2538	c.1784_splice	c.e3-1	p.V595_splice	SLC8A3_ENST00000534137.1_Splice_Site_p.V595_splice|SLC8A3_ENST00000356921.2_Splice_Site_p.V595_splice|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000533899.1_5'UTR|SLC8A3_ENST00000357887.3_Intron|SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000216568.7_5'UTR	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	595	Calx-beta 2.				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)		TTATGGTTTTCCTGTAGGGAC	0.458000													8	14					0	0	0.004482	0	0
OR1B1	347169	broad.mit.edu	37	9	125391016	125391016	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:125391016G>T	ENST00000304833.3	-	1	836	c.799C>A	c.(799-801)Cag>Aag	p.Q267K	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						AAGGGAGGCTGGAAGTAGACA	0.517000													25	14					2.39556e-15	2.73427e-15	0.002780	1	0
ME1	4199	broad.mit.edu	37	6	83947538	83947538	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:83947538C>T	ENST00000369705.3	-	9	1040	c.924G>A	c.(922-924)ggG>ggA	p.G308G	ME1_ENST00000543031.1_Silent_p.G233G|ME1_ENST00000541327.1_Silent_p.G142G	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	308					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)	GGTGTGCAATCCCTAGGGCAG	0.358000													9	2					0	0	0.004482	0	0
DCAF6	55827	broad.mit.edu	37	1	167973951	167973951	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:167973951C>T	ENST00000367840.3	+	10	1392	c.1298C>T	c.(1297-1299)tCt>tTt	p.S433F	DCAF6_ENST00000367843.3_Missense_Mutation_p.S433F|DCAF6_ENST00000312263.6_Missense_Mutation_p.S433F|DCAF6_ENST00000432587.2_Missense_Mutation_p.S402F	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	433					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGCCCTCATTCTACTCCTTTG	0.463000													76	33					0	0	0.014410	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563018	140563018	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140563018A>T	ENST00000361016.2	+	1	2039	c.884A>T	c.(883-885)aAt>aTt	p.N295I		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		295	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGGAGGTAAATCCTATGACA	0.463000													18	21					0	0	0.007413	0	0
KCNH1	3756	broad.mit.edu	37	1	210977359	210977359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:210977359C>T	ENST00000367007.4	-	8	1700	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	KCNH1_ENST00000271751.4_Missense_Mutation_p.D538N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	538					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACAATATAATCCATTACTCGC	0.468000													84	29					0	0	0.014410	0	0
TRIM29	23650	broad.mit.edu	37	11	120008301	120008301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:120008301C>T	ENST00000341846.5	-	1	860	c.439G>A	c.(439-441)Gag>Aag	p.E147K		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	147					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CGCCGGGTCTCCCCGGGCTCC	0.632000													43	49					0	0	0.014410	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148985629	148985629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:148985629C>T	ENST00000336498.3	+	22	2482	c.2243C>T	c.(2242-2244)tCt>tTt	p.S748F	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.S346F	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	748	SH3.				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)		TCGGAATTATCTTTTGAAATA	0.443000													24	16					0	0	0.003330	0	0
ABCC8	6833	broad.mit.edu	37	11	17449913	17449913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:17449913C>T	ENST00000302539.4	-	14	2088	c.1963G>A	c.(1963-1965)Gat>Aat	p.D655N	ABCC8_ENST00000389817.3_Missense_Mutation_p.D655N	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	655					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCCCGACAATCCTCCCGGGCT	0.662000													105	96					0	0	0.014410	0	0
CNGA3	1261	broad.mit.edu	37	2	99012791	99012791	+	Silent	SNP	G	G	A	rs146142409	byFrequency	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:99012791G>A	ENST00000393504.1	+	8	1575	c.1158G>A	c.(1156-1158)ttG>ttA	p.L386L	CNGA3_ENST00000436404.2_Silent_p.L368L|CNGA3_ENST00000409937.1_Silent_p.L390L|CNGA3_ENST00000272602.2_Silent_p.L386L	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	386					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TAGACTTCTTGGTGGGTGTTC	0.502000													24	23					0	0	0.003330	0	0
SOD3	6649	broad.mit.edu	37	4	24801434	24801434	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:24801434C>T	ENST00000382120.3	+	2	496	c.291C>T	c.(289-291)ttC>ttT	p.F97F		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	97					removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding			prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				ACGCCTTCTTCGCCCTGGAGG	0.736000													4	1					0	0	0.009096	0	0
CES1	1066	broad.mit.edu	37	16	55844441	55844441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:55844441G>A	ENST00000422046.2	-	11	1581	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	CES1_ENST00000361503.4_Missense_Mutation_p.R435W|CES1_ENST00000360526.3_Missense_Mutation_p.R436W			P23141	EST1_HUMAN	carboxylesterase 1	435					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CTGTGGTTCCGGGCCACAATC	0.512000													28	28					0	0	0.006320	0	0
UGT2B10	7365	broad.mit.edu	37	4	69681805	69681805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:69681805G>A	ENST00000265403.7	+	1	95	c.68G>A	c.(67-69)gGa>gAa	p.G23E	UGT2B10_ENST00000458688.2_Missense_Mutation_p.G23E	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	23					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GGGAGTTGTGGAAAGGTGCTG	0.438000													48	67					0	0	0.014410	0	0
IL23R	149233	broad.mit.edu	37	1	67635190	67635190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:67635190G>A	ENST00000347310.5	+	3	407	c.236G>A	c.(235-237)aGg>aAg	p.R79K	C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.R79K	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	79					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 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|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CAAATCACAAGGATTAATAAA	0.343000													20	42					0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179590751	179590751	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:179590751G>A	ENST00000589042.1	-	70	20522	c.20298C>T	c.(20296-20298)ttC>ttT	p.F6766F	TTN_ENST00000591111.1_Silent_p.F6449F|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.F5522F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6449	Ig-like 49.						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)			CTATAGGAGGGAAGCTGCTAA	0.378000													19	31					0	0	0.010504	0	0
ZNF534	147658	broad.mit.edu	37	19	52941068	52941068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:52941068G>A	ENST00000332323.6	+	4	455	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.E119K	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ACATCTGACTGAATGGCAGCC	0.348000													9	20					0	0	0.006214	0	0
TRAV3	28690	broad.mit.edu	37	14	22192091	22192091	+	RNA	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:22192091G>A	ENST00000390425.2	+	0	132																											AGGTGGGCTGGAAAGGACCCC	0.582000													29	29					0	0	0.007291	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255506	140255506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140255506C>T	ENST00000398631.2	+	1	449	c.449C>T	c.(448-450)tCt>tTt	p.S150F	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTGGACTCTCATTTTCCT	0.448000													27	39					0	0	0.005443	0	0
ENPEP	2028	broad.mit.edu	37	4	111469471	111469471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:111469471C>T	ENST00000265162.5	+	14	2482	c.2140C>T	c.(2140-2142)Cct>Tct	p.P714S		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	714					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGAGCTATATCCTATGATTGA	0.368000													16	23					0	0	0.004007	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458690	120458690	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:120458690G>A	ENST00000256646.2	-	34	6874	c.6655C>T	c.(6655-6657)Ccc>Tcc	p.P2219S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2219					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCACTGAGGGAAGCACAGTG	0.572000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				178	287					0	0	0.014410	0	0
BANK1	55024	broad.mit.edu	37	4	102951364	102951364	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:102951364C>T	ENST00000504592.1	+	14	2215	c.1797C>T	c.(1795-1797)ccC>ccT	p.P599P	BANK1_ENST00000444316.2_Silent_p.P584P|BANK1_ENST00000428908.1_Silent_p.P481P|BANK1_ENST00000508653.1_Silent_p.P481P|BANK1_ENST00000322953.4_Silent_p.P614P|RP11-498M5.2_ENST00000505091.1_RNA			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	614					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CTCCTGCCCCCACACCCCGAC	0.373000													17	25					0	0	0.006122	0	0
MICALCL	84953	broad.mit.edu	37	11	12316195	12316195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:12316195C>T	ENST00000256186.2	+	3	1508	c.1217C>T	c.(1216-1218)tCt>tTt	p.S406F		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	406					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AAAGACAAATCTTTTGAGAGT	0.473000													36	57					0	0	0.004289	0	0
TBC1D16	125058	broad.mit.edu	37	17	77915864	77915864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:77915864G>A	ENST00000310924.2	-	11	2165	c.2050C>T	c.(2050-2052)Cgg>Tgg	p.R684W	TBC1D16_ENST00000576768.1_Missense_Mutation_p.R309W|TBC1D16_ENST00000340848.7_Missense_Mutation_p.R322W	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	684						intracellular	Rab GTPase activator activity	p.R684G(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CTCACCTTCCGGAGAACGAGC	0.647000													8	7					0	0	0.003080	0	0
PCMTD2	55251	broad.mit.edu	37	20	62895799	62895799	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:62895799C>T	ENST00000308824.6	+	3	452	c.325C>T	c.(325-327)Cat>Tat	p.H109Y	PCMTD2_ENST00000299468.7_Missense_Mutation_p.H109Y|PCMTD2_ENST00000369758.3_Missense_Mutation_p.H109Y	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	109						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGGTGTGAACCATGGGGTGGA	0.383000													8	14					0	0	0.003080	0	0
RAG2	5897	broad.mit.edu	37	11	36614842	36614842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:36614842C>T	ENST00000311485.3	-	2	1038	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	293			E -> G (in dbSNP:rs16929093).		chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTGTTGTCCTCTAAAGAGATG	0.398000									Familial Hemophagocytic Lymphohistiocytosis				41	45					0	0	0.006230	0	0
RABL2A	11159	broad.mit.edu	37	2	114391763	114391763	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:114391763C>T	ENST00000409875.1	+	5	473	c.171C>T	c.(169-171)acC>acT	p.T57T	RABL2A_ENST00000376439.3_Silent_p.T57T|RABL2A_ENST00000393166.3_Silent_p.T57T|RABL2A_ENST00000393167.3_Silent_p.T57T|RABL2A_ENST00000409842.1_Silent_p.T57T|RABL2A_ENST00000393165.3_Silent_p.T57T			Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	57					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						ACGCCCTGACCCTGTACAAGC	0.547000													4	8					0	0	0.000602	0	0
TRPC4	7223	broad.mit.edu	37	13	38357311	38357311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:38357311C>T	ENST00000379705.3	-	2	1017	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	TRPC4_ENST00000426868.2_Missense_Mutation_p.E54K|TRPC4_ENST00000379679.1_Missense_Mutation_p.E54K|TRPC4_ENST00000379681.3_Missense_Mutation_p.E54K|TRPC4_ENST00000379673.2_Missense_Mutation_p.E54K|TRPC4_ENST00000338947.5_Missense_Mutation_p.E54K|TRPC4_ENST00000358477.2_Missense_Mutation_p.E54K|TRPC4_ENST00000447043.1_Missense_Mutation_p.E54K|TRPC4_ENST00000355779.2_Missense_Mutation_p.E54K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	54					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		atttcAGCTTCCTCTAGGGAT	0.388000													53	98					0	0	0.014410	0	0
HOXA3	3200	broad.mit.edu	37	7	27147736	27147736	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:27147736T>C	ENST00000396352.4	-	3	1329	c.1130A>G	c.(1129-1131)aAc>aGc	p.N377S	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.N377S	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	377					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGGCCCGGAGTTGCTCATGGG	0.682000													7	14					0	0	0.003080	0	0
SSPO	23145	broad.mit.edu	37	7	149523807	149523807	+	RNA	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:149523807C>T	ENST00000378016.2	+	0	14620							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)			CACTGCCTGCCCCTGCACCCA	0.682000													5	9					0	0	0.000602	0	0
ZNF836	162962	broad.mit.edu	37	19	52659922	52659922	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:52659922G>A	ENST00000322146.8	-	5	1535	c.1014C>T	c.(1012-1014)acC>acT	p.T338T	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.T338T	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTTGTTTGAAGGTTTTCCCAC	0.388000													6	11					0	0	0.001168	0	0
CCDC108	255101	broad.mit.edu	37	2	219888018	219888018	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:219888018G>A	ENST00000341552.5	-	16	2814	c.2731C>T	c.(2731-2733)Ctg>Ttg	p.L911L	CCDC108_ENST00000453220.1_Silent_p.L911L|CCDC108_ENST00000441968.1_Silent_p.L911L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	911	MSP.					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)		TCGAACTGCAGGGGCAGACGC	0.622000													12	20					0	0	0.013537	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727586	20727586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:20727586G>A	ENST00000427401.4	-	4	1517	c.1423C>T	c.(1423-1425)Cat>Tat	p.H475Y		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	475					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCTCCAGTATGAATTCTCTTA	0.408000													4	6					0	0	0.009096	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147600773	147600773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:147600773C>T	ENST00000361727.3	+	14	2731	c.2215C>T	c.(2215-2217)Ccc>Tcc	p.P739S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	739	Fibrinogen C-terminal.				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)			CTGCACAGATCCCAAGTACTA	0.567000										HNSCC(39;0.1)			7	11					0	0	0.001984	0	0
SNRNP27	11017	broad.mit.edu	37	2	70131502	70131502	+	Silent	SNP	A	A	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:70131502A>G	ENST00000409116.1	+	5	491	c.465A>G	c.(463-465)gtA>gtG	p.V155V	SNRNP27_ENST00000244227.3_3'UTR			Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	0					mRNA processing|RNA splicing	nucleus	nucleic acid binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						TGGATTTTGTATTTTGTATTT	0.333000													12	10					0	0	0.010729	0	0
COPA	1314	broad.mit.edu	37	1	160282958	160282958	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:160282958C>T	ENST00000241704.7	-	10	1072		c.e10-1		COPA_ENST00000368069.3_Splice_Site	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha						COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AACCCCAGTCCTAGAAAAGGT	0.428000													12	39					0	0	0.013537	0	0
NPY1R	4886	broad.mit.edu	37	4	164247459	164247459	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:164247459G>A	ENST00000296533.2	-	2	779	c.248C>T	c.(247-249)tCc>tTc	p.S83F	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	83					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTCTGAGAAGGAAAGGTTCAC	0.418000													15	14					0	0	0.003163	0	0
ALPPL2	251	broad.mit.edu	37	2	233272013	233272013	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:233272013G>A	ENST00000295453.3	+	3	254	c.202G>A	c.(202-204)Gtg>Atg	p.V68M		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	68					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GGTGTCTACGGTGACAGCTGC	0.627000													14	24					0	0	0.003163	0	0
BTNL8	79908	broad.mit.edu	37	5	180374621	180374621	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:180374621C>T	ENST00000231229.4	+	4	1017	c.783C>T	c.(781-783)ttC>ttT	p.F261F	BTNL8_ENST00000508408.1_Silent_p.F261F|BTNL8_ENST00000511704.1_Silent_p.F145F|BTNL8_ENST00000533815.2_Silent_p.F77F|BTNL8_ENST00000505126.1_Silent_p.F54F|BTNL8_ENST00000340184.4_Silent_p.F261F|BTNL8_ENST00000400707.3_Silent_p.F136F	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	261						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCCAAATTCCAGTGTAAGC	0.493000													97	112					0	0	0.014410	0	0
PRSS55	203074	broad.mit.edu	37	8	10390430	10390430	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:10390430G>T	ENST00000328655.3	+	4	653	c.613G>T	c.(613-615)Gtg>Ttg	p.V205L	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.V205L	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	205	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CAAAAACTCTGTGAAAACGGA	0.507000													18	31					2.4624e-09	2.79975e-09	0.008871	1	0
ABCG5	64240	broad.mit.edu	37	2	44040275	44040275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:44040275C>T	ENST00000543989.1	-	9	2456	c.751G>A	c.(751-753)Gat>Aat	p.D251N	ABCG5_ENST00000405322.1_Missense_Mutation_p.D475N|ABCG5_ENST00000260645.1_Missense_Mutation_p.D646N			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	646	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATGAGATGATCCCTTATTTTG	0.423000													71	99					0	0	0.014410	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001314	13001314	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:13001314C>T	ENST00000376189.1	-	3	468	c.369G>A	c.(367-369)ggG>ggA	p.G123G	PRAMEF6_ENST00000415464.2_Silent_p.G123G|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	123										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	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)		TGAGGAAGCACCCACGGGCCA	0.498000													39	102					0	0	0.014410	0	0
UROC1	131669	broad.mit.edu	37	3	126224817	126224817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:126224817C>T	ENST00000290868.2	-	7	693	c.640G>A	c.(640-642)Ggt>Agt	p.G214S	UROC1_ENST00000383579.3_Missense_Mutation_p.G214S	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	214					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCCTGGGGACCGATGTAGCAG	0.662000													22	19					0	0	0.003954	0	0
BTBD16	118663	broad.mit.edu	37	10	124050683	124050683	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:124050683C>T	ENST00000368994.2	+	7	818	c.567C>T	c.(565-567)atC>atT	p.I189I	BTBD16_ENST00000260723.4_Silent_p.I188I			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	188	BTB.									breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCGCCCACATCCTCCAGTTCA	0.577000													39	44					0	0	0.006999	0	0
RHBDL2	54933	broad.mit.edu	37	1	39361666	39361666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:39361666C>T	ENST00000289248.2	-	5	1592	c.584G>A	c.(583-585)gGa>gAa	p.G195E	RHBDL2_ENST00000372990.1_Missense_Mutation_p.G195E|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000538156.1_Missense_Mutation_p.G262E|RHBDL2_ENST00000372985.3_Missense_Mutation_p.G275E			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	195					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AAAATAGCCTCCCATCAGAGC	0.428000													12	18					0	0	0.004007	0	0
IGHM	3507	broad.mit.edu	37	14	106322139	106322139	+	RNA	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:106322139C>T	ENST00000390559.2	-	0	184																											GTACTTGCCCCCTCTCAGGAC	0.582000													18	24					0	0	0.006122	0	0
ZNF98	148198	broad.mit.edu	37	19	22575763	22575763	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:22575763G>A	ENST00000357774.5	-	4	395	c.274C>T	c.(274-276)Caa>Taa	p.Q92*		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CAAAGGTCTTGGGCAAAATAA	0.269000													3	1					0	0	0.009096	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558598	129558598	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:129558598T>A	ENST00000422113.2	-	9	3448	c.3122A>T	c.(3121-3123)aAa>aTa	p.K1041I	TMEM132D_ENST00000389441.4_Missense_Mutation_p.K579I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1041						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCTTTTCCTTTTTGAGGTAGG	0.483000													26	25					0	0	0.003954	0	0
MAPK8	5599	broad.mit.edu	37	10	49634038	49634038	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:49634038T>A	ENST00000374189.1	+	8	977	c.796T>A	c.(796-798)Tat>Aat	p.Y266N	MAPK8_ENST00000360332.3_Missense_Mutation_p.Y266N|MAPK8_ENST00000395611.3_Intron|MAPK8_ENST00000374182.3_Missense_Mutation_p.Y266N			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	266	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		CAGACCTAAATATGCTGGATA	0.368000													26	27					0	0	0.004656	0	0
ISX	91464	broad.mit.edu	37	22	35478599	35478599	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr22:35478599C>T	ENST00000308700.6	+	2	1270	c.318C>T	c.(316-318)taC>taT	p.Y106Y	ISX_ENST00000404699.2_Silent_p.Y106Y	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	106						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						TTACCCACTACCCAGACGTTC	0.587000													23	24					0	0	0.012319	0	0
LAMA5	3911	broad.mit.edu	37	20	60921769	60921769	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:60921769T>A	ENST00000252999.3	-	8	1226	c.1160A>T	c.(1159-1161)tAt>tTt	p.Y387F	LAMA5_ENST00000370692.3_Missense_Mutation_p.Y387F|LAMA5_ENST00000370677.3_Missense_Mutation_p.Y387F	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	387	Laminin EGF-like 2.				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)	CCCACCCTGATAGGTGCCATC	0.657000													14	14					0	0	0.004007	0	0
BTC	685	broad.mit.edu	37	4	75673343	75673343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:75673343G>A	ENST00000395743.3	-	5	805	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	149	Arg/Lys-rich (basic).				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TTTCTTTTACGACGTTTCCGA	0.358000													11	19					0	0	0.013537	0	0
NLRP4	147945	broad.mit.edu	37	19	56363446	56363446	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:56363446G>A	ENST00000301295.6	+	0	422				NLRP4_ENST00000346986.5_De_novo_Start_InFrame	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4								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)		CTCCAGAAAAGATGGCAGCCT	0.383000													31	45					0	0	0.012213	0	0
MYOM2	9172	broad.mit.edu	37	8	2040257	2040257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:2040257G>A	ENST00000262113.4	+	16	2053	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K	MYOM2_ENST00000523438.1_Missense_Mutation_p.E63K	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	638	Fibronectin type-III 3.				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)		ACCTAAGCATGAGGAGGACCT	0.587000													48	64					0	0	0.014410	0	0
SYT8	90019	broad.mit.edu	37	11	1858457	1858457	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:1858457C>T	ENST00000341958.3	+	8	1262	c.960C>T	c.(958-960)agC>agT	p.S320S	SYT8_ENST00000535046.1_3'UTR|SYT8_ENST00000381968.3_Silent_p.S334S			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	334	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGACCGCAGCCTGCCGCTCC	0.672000													7	16					0	0	0.004482	0	0
MYO3B	140469	broad.mit.edu	37	2	171073890	171073890	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:171073890C>T	ENST00000334231.6	+	6	615	c.615C>T	c.(613-615)ttC>ttT	p.F205F	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.F196F|MYO3B_ENST00000408978.4_Silent_p.F196F			Q8WXR4	MYO3B_HUMAN	myosin IIIB	196	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCACCCCGTTCTGGATGGCCC	0.443000													54	80					0	0	0.014410	0	0
OR6K2	81448	broad.mit.edu	37	1	158670321	158670321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:158670321C>T	ENST00000359610.2	-	1	165	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GACCAGGTTTCCAACAACAAT	0.428000													19	51					0	0	0.007413	0	0
PSG6	5675	broad.mit.edu	37	19	43406586	43406586	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:43406586C>T	ENST00000187910.2	-	6	1318	c.1253G>A	c.(1252-1254)gGa>gAa	p.G418E	PSG6_ENST00000402603.4_Missense_Mutation_p.G325E	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				tgtctggtttccatggcaggg	0.443000													59	87					0	0	0.014410	0	0
NACA	4666	broad.mit.edu	37	12	57111978	57111978	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:57111978G>A	ENST00000454682.1	-	3	3617	c.3336C>T	c.(3334-3336)tcC>tcT	p.S1112S	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_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						CTCCTTTTGGGGAGGGAGGAG	0.657000			T	BCL6	NHL								29	37					0	0	0.007291	0	0
PADI3	51702	broad.mit.edu	37	1	17596805	17596805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:17596805G>A	ENST00000375460.3	+	7	770	c.730G>A	c.(730-732)Ggg>Agg	p.G244R		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	244					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.G244R(2)		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)	CCGCTTGCATGGGGATGAGGA	0.587000													36	36					0	0	0.004289	0	0
MUC20	200958	broad.mit.edu	37	3	195453261	195453261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:195453261C>T	ENST00000320736.6	+	3	1400	c.1274C>T	c.(1273-1275)aCc>aTc	p.T425I	MUC20_ENST00000447234.2_Missense_Mutation_p.T596I|MUC20_ENST00000445522.2_Missense_Mutation_p.T561I|MUC20_ENST00000436408.1_Missense_Mutation_p.T596I	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	596					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GACATCGCAACCAAGGGGCCC	0.587000													5	24					0	0	0.001984	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49969019	49969019	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:49969019C>T	ENST00000293350.4	+	13	1756	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	ALDH16A1_ENST00000540132.1_Silent_p.F368F|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000455361.2_Silent_p.F480F|ALDH16A1_ENST00000433981.2_Silent_p.F366F	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	531							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		ATGGGCTCTTCGTTGGGGGCC	0.642000													26	36					0	0	0.006320	0	0
TNC	3371	broad.mit.edu	37	9	117846683	117846683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:117846683C>T	ENST00000350763.4	-	4	2347	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	TNC_ENST00000535648.1_Missense_Mutation_p.E646K|TNC_ENST00000341037.4_Missense_Mutation_p.E646K|TNC_ENST00000340094.3_Missense_Mutation_p.E646K|TNC_ENST00000345230.3_Missense_Mutation_p.E646K|TNC_ENST00000423613.2_Missense_Mutation_p.E646K|TNC_ENST00000537320.1_Missense_Mutation_p.E646K|TNC_ENST00000542877.1_Missense_Mutation_p.E646K|TNC_ENST00000346706.3_Missense_Mutation_p.E646K	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	646	Fibronectin type-III 1.				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						ACCCGCATCTCATTGTCCCAG	0.557000													19	26					0	0	0.007413	0	0
SPOCK1	6695	broad.mit.edu	37	5	136328173	136328173	+	Splice_Site	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:136328173T>C	ENST00000394945.1	-	7	875	c.706_splice	c.e7+1	p.R236_splice	SPOCK1_ENST00000282223.7_Splice_Site_p.R236_splice	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	236					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGGTCTTACTGCCTTGGGCT	0.438000													28	34					0	0	0.012213	0	0
PAK2	5062	broad.mit.edu	37	3	196555215	196555215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:196555215C>T	ENST00000327134.3	+	15	1836	c.1514C>T	c.(1513-1515)cCg>cTg	p.P505L		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	505					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	p.P505Q(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CTGGCCAAACCGTTATCTAGC	0.383000													43	75					0	0	0.014410	0	0
COLEC10	10584	broad.mit.edu	37	8	120118142	120118142	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:120118142G>A	ENST00000332843.2	+	6	587	c.546G>A	c.(544-546)atG>atA	p.M182I		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	182	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGGGTGGAATGCTAGCCATGC	0.488000													20	16					0	0	0.014323	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001315	13001315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:13001315C>T	ENST00000376189.1	-	3	467	c.368G>A	c.(367-369)gGg>gAg	p.G123E	PRAMEF6_ENST00000415464.2_Missense_Mutation_p.G123E|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	123										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	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)		GAGGAAGCACCCACGGGCCAT	0.498000													37	98					0	0	0.014410	0	0
USP37	57695	broad.mit.edu	37	2	219321865	219321865	+	Missense_Mutation	SNP	G	G	A	rs4292082		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:219321865G>A	ENST00000258399.3	-	24	3075	c.2663C>T	c.(2662-2664)tCg>tTg	p.S888L	USP37_ENST00000415516.1_Missense_Mutation_p.S794L|USP37_ENST00000418019.1_Missense_Mutation_p.S888L|USP37_ENST00000454775.1_Missense_Mutation_p.S888L	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	888					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GAGCCGGTACGAATGAGGCAG	0.353000													12	8					0	0	0.001855	0	0
SNHG14	104472715	broad.mit.edu	37	15	25417694	25417694	+	RNA	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:25417694C>T	ENST00000549301.1	+	0	472				SNHG14_ENST00000553149.1_RNA																							CTCAGCCCTCCCTGGCACTCT	0.627000													8	14					0	0	0.003080	0	0
SRRM1	10250	broad.mit.edu	37	1	24979044	24979044	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:24979044C>T	ENST00000323848.9	+	7	1160	c.845C>T	c.(844-846)tCc>tTc	p.S282F	SRRM1_ENST00000537199.1_Missense_Mutation_p.S151F|SRRM1_ENST00000447431.2_Missense_Mutation_p.S282F|SRRM1_ENST00000374389.4_Missense_Mutation_p.S282F|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	282	Arg-rich.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CGGTCACGCTCCAAATCAAGA	0.498000													14	20					0	0	0.001855	0	0
CREB3L2	64764	broad.mit.edu	37	7	137600734	137600734	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:137600734T>C	ENST00000330387.6	-	3	695	c.344A>G	c.(343-345)tAc>tGc	p.Y115C	CREB3L2_ENST00000452463.1_Missense_Mutation_p.Y115C|CREB3L2_ENST00000458726.1_Missense_Mutation_p.Y52C|CREB3L2_ENST00000456390.1_Missense_Mutation_p.Y115C	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	115					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TGTAGACAGGTACCATTTCTC	0.493000			T	FUS	fibromyxoid sarcoma								13	14					0	0	0.004007	0	0
C17orf53	78995	broad.mit.edu	37	17	42225989	42225989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:42225989C>T	ENST00000319977.4	+	3	1055	c.818C>T	c.(817-819)tCc>tTc	p.S273F	C17orf53_ENST00000585683.1_Missense_Mutation_p.S273F|C17orf53_ENST00000245382.6_Missense_Mutation_p.S273F	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	273										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCGCAACGCTCCCCTGTTCAA	0.557000													38	42					0	0	0.005524	0	0
BRWD3	254065	broad.mit.edu	37	X	79978134	79978134	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:79978134G>A	ENST00000373275.4	-	17	2019	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	601										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CCAACCGTTGGAATTTTGTGG	0.403000													19	2					0	0	0.012319	0	0
RAF1	5894	broad.mit.edu	37	3	12650363	12650363	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:12650363A>T	ENST00000251849.4	-	5	922	c.483T>A	c.(481-483)aaT>aaA	p.N161K	RAF1_ENST00000442415.2_Missense_Mutation_p.N161K|RAF1_ENST00000542177.1_Missense_Mutation_p.N80K|RAF1_ENST00000534997.1_5'UTR	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	161					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ATCGAAATCCATTGAGCAGGA	0.418000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				15	20					0	0	0.004007	0	0
NEK8	284086	broad.mit.edu	37	17	27061949	27061949	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:27061949A>C	ENST00000268766.6	+	3	447	c.413A>C	c.(412-414)aAa>aCa	p.K138T	NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	138	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CTGCTTGACAAACACCGCATG	0.552000													36	53					0	0	0.004289	0	0
SLC17A2	10246	broad.mit.edu	37	6	25915842	25915842	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:25915842G>A	ENST00000377850.3	-	10	1620	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	SLC17A2_ENST00000360488.3_Intron|SLC17A2_ENST00000265425.3_Silent_p.L366L			O00624	NPT3_HUMAN	solute carrier family 17, member 2	366					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						ACAAAGGGCAGGGCCACAGCA	0.478000													21	29					0	0	0.008871	0	0
USP32	84669	broad.mit.edu	37	17	58348781	58348781	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:58348781C>T	ENST00000300896.4	-	6	827	c.633G>A	c.(631-633)cgG>cgA	p.R211R	USP32_ENST00000393003.3_Silent_p.R211R	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	211					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATCGTCCAGTCCGGGATTGAG	0.388000													19	19					0	0	0.006122	0	0
OR52B4	143496	broad.mit.edu	37	11	4388697	4388697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:4388697G>A	ENST00000408920.2	-	1	919	c.829C>T	c.(829-831)Ccg>Tcg	p.P277S		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P277A(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTAGCCAACGGGATGTGGATA	0.463000													19	33					0	0	0.012319	0	0
A2M	2	broad.mit.edu	37	12	9242531	9242531	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:9242531C>T	ENST00000318602.7	-	21	2992	c.2685G>A	c.(2683-2685)agG>agA	p.R895R		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	895					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTGTGTCTTTCCTTCCGTGTT	0.373000													24	23					0	0	0.003954	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665012	6665012	+	Silent	SNP	G	G	A	rs143839697		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:6665012G>A	ENST00000326176.9	-	5	921	c.540C>T	c.(538-540)gtC>gtT	p.V180V	TNFSF14_ENST00000245912.3_Silent_p.V180V|TNFSF14_ENST00000599359.1_Silent_p.V216V	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	216					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	p.V216V(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GCACACGGACGACCACCTTCT	0.622000													25	29					0	0	0.003954	0	0
ANKH	56172	broad.mit.edu	37	5	14749296	14749296	+	Silent	SNP	A	A	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:14749296A>G	ENST00000284268.6	-	6	1137	c.807T>C	c.(805-807)agT>agC	p.S269S	ANKH_ENST00000535119.1_Silent_p.S71S|ANKH_ENST00000503939.1_5'UTR	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	269					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						TGGCTGCAGAACTGCCACCAA	0.547000													17	27					0	0	0.006122	0	0
IGSF10	285313	broad.mit.edu	37	3	151161648	151161648	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:151161648T>C	ENST00000282466.3	-	5	5086	c.5087A>G	c.(5086-5088)cAg>cGg	p.Q1696R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1696	Ig-like C2-type 3.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTGCTATTCTGTTTCCTCTT	0.413000													13	7					0	0	0.004007	0	0
FAM83G	644815	broad.mit.edu	37	17	18874834	18874834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:18874834C>T	ENST00000388995.6	-	6	2533	c.2310G>A	c.(2308-2310)atG>atA	p.M770I	FAM83G_ENST00000345041.4_Missense_Mutation_p.M770I|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.M770I|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	770										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TGCCATCGGTCATGGGGCGGG	0.652000													40	70					0	0	0.006999	0	0
DSC1	1823	broad.mit.edu	37	18	28722027	28722027	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:28722027C>T	ENST00000257197.3	-	9	1456	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.E399K	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	399	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTTCCATTTTCATTTCCTTGT	0.353000													19	36					0	0	0.008871	0	0
HEPHL1	341208	broad.mit.edu	37	11	93808340	93808340	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:93808340G>A	ENST00000315765.9	+	9	1513	c.1504_splice	c.e9-1	p.G502_splice		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	502	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATATCCTCAGGATTTGTGAAA	0.473000													8	12					0	0	0.004482	0	0
VWF	7450	broad.mit.edu	37	12	6161802	6161802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:6161802C>T	ENST00000261405.5	-	16	2347	c.2093G>A	c.(2092-2094)aGg>aAg	p.R698K		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	698	TIL 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAGTCCCCCCTCTCATCCAT	0.582000													28	37					0	0	0.005443	0	0
METTL2A	339175	broad.mit.edu	37	17	60518079	60518079	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:60518079C>T	ENST00000311506.5	+	6	807	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	257							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TTGATATTATCATTCTCATAT	0.423000													32	65					0	0	0.012213	0	0
CYP3A4	1576	broad.mit.edu	37	7	99367821	99367821	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:99367821G>A	ENST00000336411.2	-	5	539	c.356C>T	c.(355-357)tCt>tTt	p.S119F	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	119					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CTCAGCTATAGAGATGGCACT	0.403000													21	22					0	0	0.012319	0	0
TAS1R2	80834	broad.mit.edu	37	1	19183844	19183844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:19183844G>A	ENST00000375371.3	-	2	485	c.464C>T	c.(463-465)tCc>tTc	p.S155F	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	155					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GAGAAATAGGGAGAGGAAGTT	0.572000													8	21					0	0	0.008291	0	0
KRT26	353288	broad.mit.edu	37	17	38928361	38928361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:38928361G>A	ENST00000335552.4	-	1	53	c.5C>T	c.(4-6)tCt>tTt	p.S2F		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	2	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				AAGTCGAAAAGACATGGTGGC	0.547000													32	24					0	0	0.009535	0	0
CSF1R	1436	broad.mit.edu	37	5	149440464	149440464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:149440464C>T	ENST00000286301.3	-	14	2221	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	CSF1R_ENST00000515239.1_5'UTR	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	644	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ACGATGTTCTCGTGCTGGCCC	0.612000													7	13					0	0	0.006214	0	0
C17orf104	284071	broad.mit.edu	37	17	42745546	42745546	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:42745546T>C	ENST00000409122.2	+	5	2409	c.2267T>C	c.(2266-2268)aTt>aCt	p.I756T	C17orf104_ENST00000409464.1_Missense_Mutation_p.I590T|C17orf104_ENST00000359945.3_Missense_Mutation_p.I756T	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	756										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						GAACTTCATATTCGTCTAGAA	0.363000													12	19					0	0	0.002450	0	0
KCNH8	131096	broad.mit.edu	37	3	19575436	19575436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:19575436C>T	ENST00000328405.2	+	16	3435	c.3169C>T	c.(3169-3171)Cag>Tag	p.Q1057*		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1057	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGCTTCAGTCAGGGAACTGT	0.483000													19	18					0	0	0.007413	0	0
NR1H4	9971	broad.mit.edu	37	12	100928704	100928704	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:100928704T>C	ENST00000548884.1	+	6	1164	c.623T>C	c.(622-624)cTg>cCg	p.L208P	NR1H4_ENST00000551379.1_Missense_Mutation_p.L222P|NR1H4_ENST00000549996.1_Missense_Mutation_p.L161P|NR1H4_ENST00000188403.7_Missense_Mutation_p.L218P|NR1H4_ENST00000392986.3_Missense_Mutation_p.L212P	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	222					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TCTAAGCGACTGAGAAAAAAT	0.418000													14	14					0	0	0.001855	0	0
MS4A5	64232	broad.mit.edu	37	11	60198338	60198338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:60198338C>T	ENST00000300190.2	+	2	309	c.223C>T	c.(223-225)Cca>Tca	p.P75S	MS4A5_ENST00000534071.1_Intron	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	75						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						CTTGTTAAAACCATATCCAAG	0.378000													35	40					0	0	0.013726	0	0
RYR1	6261	broad.mit.edu	37	19	39017643	39017643	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:39017643A>T	ENST00000355481.4	+	71	10753	c.10622A>T	c.(10621-10623)gAt>gTt	p.D3541V	RYR1_ENST00000360985.3_Missense_Mutation_p.D3546V|RYR1_ENST00000359596.3_Missense_Mutation_p.D3546V|AC067969.1_ENST00000597015.1_RNA	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3546					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)	AAAGACACAGATGAGGAGGTC	0.547000													17	30					0	0	0.007413	0	0
TMEM182	130827	broad.mit.edu	37	2	103378704	103378704	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:103378704G>A	ENST00000412401.2	+	1	233	c.28G>A	c.(28-30)Gga>Aga	p.G10R	TMEM182_ENST00000409173.1_Intron|TMEM182_ENST00000409528.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	10						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TATCTTCTTTGGAGCTCTCTT	0.368000													14	11					0	0	0.001855	0	0
MYH2	4620	broad.mit.edu	37	17	10451235	10451235	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:10451235C>T	ENST00000245503.5	-	3	387	c.3G>A	c.(1-3)atG>atA	p.M1I	MYH2_ENST00000532183.1_Start_Codon_SNP_p.M1I|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Start_Codon_SNP_p.M1I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1	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						AGTCTGAACTCATGGCTGCTG	0.433000													15	13					0	0	0.003163	0	0
HCN1	348980	broad.mit.edu	37	5	45262699	45262699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:45262699G>A	ENST00000303230.4	-	8	2054	c.1997C>T	c.(1996-1998)cCg>cTg	p.P666L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	666						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTGTACACCGGTGGAGATTG	0.577000													22	26					0	0	0.014323	0	0
CSMD2	114784	broad.mit.edu	37	1	34006186	34006186	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:34006186C>T	ENST00000373381.4	-	60	9746	c.9570G>A	c.(9568-9570)ctG>ctA	p.L3190L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3166	Sushi 26.					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)				ACACCGCGGGCAGGGAGAGCT	0.582000													30	33					0	0	0.009535	0	0
HSPA12B	116835	broad.mit.edu	37	20	3722942	3722942	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:3722942C>T	ENST00000254963.2	+	4	298	c.153C>T	c.(151-153)gtC>gtT	p.V51V	HSPA12B_ENST00000542646.1_Intron	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	51							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						AACCCGAGGTCCGAGCCCCCC	0.592000													19	16					0	0	0.012319	0	0
TTN	7273	broad.mit.edu	37	2	179634897	179634897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:179634897G>A	ENST00000589042.1	-	36	8755	c.8531C>T	c.(8530-8532)tCa>tTa	p.S2844L	TTN_ENST00000591111.1_Missense_Mutation_p.S2844L|TTN_ENST00000460472.2_Missense_Mutation_p.S2798L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S2798L|TTN_ENST00000360870.5_Missense_Mutation_p.S2844L|TTN_ENST00000359218.5_Missense_Mutation_p.S2798L|TTN_ENST00000342992.6_Missense_Mutation_p.S2844L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2582							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)			TTTCCTTTCTGAGACCAGTCT	0.458000													49	58					0	0	0.014410	0	0
KDR	3791	broad.mit.edu	37	4	55973926	55973926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:55973926C>T	ENST00000263923.4	-	10	1685	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	464	Ig-like C2-type 5.				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)	GCGCACTCTTCCTCCAACTGC	0.517000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			25	39					0	0	0.007291	0	0
MYH6	4624	broad.mit.edu	37	14	23851771	23851771	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:23851771C>T	ENST00000405093.3	-	38	5732	c.5661_splice	c.e38-1	p.E1888_splice	MYH6_ENST00000356287.3_Splice_Site_p.E1888_splice	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1888					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)		GCTTGCTCCTCCTGTGGTGGG	0.597000													23	34					0	0	0.004656	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95705405	95705405	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:95705405G>A	ENST00000324972.6	+	15	1790	c.1597G>A	c.(1597-1599)Gac>Aac	p.D533N	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.D516N|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.D496N|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.D513N|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.D496N|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.D516N	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	533					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AGACAATGCAGACTATGTGTA	0.557000											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	46					0	0	0.014410	0	0
MLST8	64223	broad.mit.edu	37	16	2257060	2257060	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:2257060G>A	ENST00000569417.1	+	5	723	c.369G>A	c.(367-369)cgG>cgA	p.R123R	MLST8_ENST00000382450.4_Silent_p.R122R|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000397124.1_Silent_p.R123R|MLST8_ENST00000301725.7_Silent_p.R142R|MLST8_ENST00000565250.1_Silent_p.R123R|MLST8_ENST00000301724.10_Silent_p.R123R|MLST8_ENST00000564088.1_Silent_p.R123R	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	123					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						AGTGCCAGCGGATCTTCCAGG	0.667000													30	37					0	0	0.013726	0	0
SNAPC2	6618	broad.mit.edu	37	19	7987028	7987028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:7987028G>A	ENST00000221573.6	+	4	532	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	SNAPC2_ENST00000597584.1_5'UTR|SNAPC2_ENST00000595035.1_3'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	161					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TGGAGGACAGGAAGACCCCGC	0.662000													32	31					0	0	0.012213	0	0
RWDD1	51389	broad.mit.edu	37	6	116910006	116910006	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:116910006C>T	ENST00000466444.2	+	4	488	c.270_splice	c.e4-1	p.A91_splice	RWDD1_ENST00000487832.2_5'UTR|RWDD1_ENST00000392526.1_5'UTR	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	91	RWD.						protein binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		GTTACACAGGCTGAAGAAAAT	0.289000													11	5					0	0	0.001855	0	0
WDR72	256764	broad.mit.edu	37	15	54007449	54007449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:54007449G>A	ENST00000396328.1	-	5	694	c.455C>T	c.(454-456)tCa>tTa	p.S152L	WDR72_ENST00000557913.1_Missense_Mutation_p.S152L|WDR72_ENST00000360509.5_Missense_Mutation_p.S152L|WDR72_ENST00000559418.1_Missense_Mutation_p.S152L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	152										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAACTGAGATGATCTAAAACT	0.393000													10	21					0	0	0.006214	0	0
EVPLL	645027	broad.mit.edu	37	17	18284834	18284834	+	Splice_Site	SNP	G	G	A	rs112860829	by1000genomes	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:18284834G>A	ENST00000399134.4	+	3	575	c.218_splice	c.e3+1	p.D73_splice	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	73										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GACTGAGAAGGAGTGAGTGGG	0.667000													10	19					0	0	0.001855	0	0
OR52K2	119774	broad.mit.edu	37	11	4471397	4471397	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:4471397C>T	ENST00000325719.4	+	1	873	c.828C>T	c.(826-828)atC>atT	p.I276I		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTCCACATCCTCCTTGCCA	0.498000													39	57					0	0	0.006999	0	0
TENM1	10178	broad.mit.edu	37	X	123654524	123654524	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:123654524C>T	ENST00000422452.2	-	18	3207	c.3144G>A	c.(3142-3144)acG>acA	p.T1048T	TENM1_ENST00000371130.3_Silent_p.T1048T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTACAGGAATCGTTGAATGTG	0.493000													39	2					0	0	0.013114	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354506	42354506	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:42354506G>A	ENST00000596827.1	+	7	968	c.882G>A	c.(880-882)agG>agA	p.R294R	DMRTC2_ENST00000269945.3_Intron			Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	275	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GAAAAAGCAGGAAACTGAAGG	0.597000													30	26					0	0	0.006320	0	0
TENM4	26011	broad.mit.edu	37	11	78433784	78433784	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:78433784G>A	ENST00000278550.7	-	24	4191	c.3729C>T	c.(3727-3729)ctC>ctT	p.L1243L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CACCCACATAGAGGCTCCCGT	0.547000													38	31					0	0	0.004878	0	0
PEX6	5190	broad.mit.edu	37	6	42942632	42942632	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:42942632G>A	ENST00000304611.8	-	2	1096	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	PEX6_ENST00000244546.4_Missense_Mutation_p.R343W	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	343					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TGAAAGTGCCGGTAAAGAACA	0.463000													87	71					0	0	0.014410	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131665	142131665	+	RNA	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:142131665C>T	ENST00000390375.2	-	0	130																											TCGTTTTGATCAGGTGTGTGG	0.572000													25	26					0	0	0.003954	0	0
MDC1	9656	broad.mit.edu	37	6	30671832	30671832	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:30671832T>A	ENST00000376406.3	-	10	5775	c.5128A>T	c.(5128-5130)Att>Ttt	p.I1710F	MDC1_ENST00000376405.2_Missense_Mutation_p.I1446F|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1710	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCAGGGGAAATAGGCTGGTCT	0.547000								Other conserved DNA damage response genes					59	73					0	0	0.014410	0	0
ESRRG	2104	broad.mit.edu	37	1	216850545	216850545	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:216850545C>T	ENST00000391890.3	-	4	793	c.276G>A	c.(274-276)aaG>aaA	p.K92K	ESRRG_ENST00000361525.3_Silent_p.K92K|ESRRG_ENST00000360012.3_Silent_p.K92K|ESRRG_ENST00000359162.2_Silent_p.K92K|ESRRG_ENST00000493748.1_Silent_p.K92K|ESRRG_ENST00000408911.3_Silent_p.K115K|ESRRG_ENST00000493603.1_Silent_p.K92K|ESRRG_ENST00000366937.1_Silent_p.K120K|ESRRG_ENST00000361395.2_Silent_p.K92K|ESRRG_ENST00000487276.1_Silent_p.K92K|ESRRG_ENST00000366938.2_Silent_p.K92K|ESRRG_ENST00000463665.1_Silent_p.K92K|ESRRG_ENST00000366940.2_Silent_p.K92K	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	115					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TGTATTCACACTTGGTCTGGG	0.512000													122	48					0	0	0.014410	0	0
WDR3	10885	broad.mit.edu	37	1	118483757	118483757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:118483757C>T	ENST00000349139.4	+	8	847	c.800C>T	c.(799-801)tCa>tTa	p.S267L	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	267						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CGAATCCTTTCATGCAGAAAA	0.418000													20	19					0	0	0.014323	0	0
SLC16A3	9123	broad.mit.edu	37	17	80195474	80195474	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:80195474C>T	ENST00000581287.1	+	3	3150	c.828C>T	c.(826-828)ttC>ttT	p.F276F	SLC16A3_ENST00000582743.1_Silent_p.F276F|SLC16A3_ENST00000392341.1_Silent_p.F276F|SLC16A3_ENST00000392339.1_Silent_p.F276F	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	276					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TTGACATCTTCGCGCGGCCGG	0.662000													50	51					0	0	0.014410	0	0
CCDC42	146849	broad.mit.edu	37	17	8638462	8638462	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:8638462C>T	ENST00000293845.3	-	6	1051	c.825G>A	c.(823-825)aaG>aaA	p.K275K	CCDC42_ENST00000539522.2_Silent_p.K201K	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	275										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CAGTCACCTCCTTCAGGTGCT	0.627000													12	15					0	0	0.001855	0	0
IGHV2-70	28454	broad.mit.edu	37	14	107179121	107179121	+	RNA	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:107179121G>A	ENST00000390634.2	-	0	131																											GGTGACCTGGGATAAGACCCC	0.512000													18	27					0	0	0.004990	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420886	55420886	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:55420886C>T	ENST00000242994.3	+	2	1041	c.663C>T	c.(661-663)ctC>ctT	p.L221L		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	221					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AAACACATCTCCTTCATCTCA	0.493000													24	29					0	0	0.014323	0	0
LRRC16B	90668	broad.mit.edu	37	14	24533496	24533496	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:24533496C>T	ENST00000342740.5	+	32	3175	c.3021C>T	c.(3019-3021)acC>acT	p.T1007T	LRRC16B_ENST00000334420.7_Silent_p.T103T	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1007										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)		GGATGGCCACCCGCCTGGATG	0.577000													10	5					0	0	0.008291	0	0
C7orf60	154743	broad.mit.edu	37	7	112535637	112535637	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:112535637C>A	ENST00000297145.4	-	3	625	c.460G>T	c.(460-462)Gaa>Taa	p.E154*	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	154										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GTTATAAATTCAGGGTTTGTA	0.353000													34	61					6.19805e-25	7.09261e-25	0.005524	1	0
PALM	5064	broad.mit.edu	37	19	736044	736044	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:736044G>A	ENST00000264560.7	+	7	662	c.468G>A	c.(466-468)ctG>ctA	p.L156L	PALM_ENST00000606643.1_3'UTR|PALM_ENST00000338448.5_Silent_p.L156L	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	156					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		ACACGCCCCTGAGGACGGTTG	0.652000													50	60					0	0	0.014410	0	0
DNM2	1785	broad.mit.edu	37	19	10940944	10940944	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:10940944C>T	ENST00000314646.5	+	20	2597	c.2433C>T	c.(2431-2433)tcC>tcT	p.S811S	DNM2_ENST00000585892.1_Silent_p.S811S|DNM2_ENST00000408974.4_Silent_p.S807S|DNM2_ENST00000389253.4_Silent_p.S811S|DNM2_ENST00000359692.6_Silent_p.S807S|DNM2_ENST00000355667.6_Silent_p.S811S			P50570	DYN2_HUMAN	dynamin 2	811	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CAATCCCATCCCGGCCTGGAC	0.697000			"""F, N, Splice, Mis, O"""		ETP ALL								32	50					0	0	0.006230	0	0
DGKK	139189	broad.mit.edu	37	X	50119860	50119860	+	RNA	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:50119860G>A	ENST00000376025.2	-	0	3227							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGGGGTTGAGGGGCAGCTTGA	0.478000													10	0					0	0	0.006214	0	0
SH2D7	646892	broad.mit.edu	37	15	78390855	78390855	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:78390855C>T	ENST00000328828.5	+	4	562	c.562C>T	c.(562-564)Cca>Tca	p.P188S	SH2D7_ENST00000409568.2_Missense_Mutation_p.P52S	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	188										endometrium(2)|kidney(2)|lung(3)	7						CCGCTCTTCTCCAAAGCCCCA	0.622000													17	22					0	0	0.004990	0	0
ANK3	288	broad.mit.edu	37	10	61868637	61868637	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:61868637A>C	ENST00000280772.1	-	27	3315	c.3124T>G	c.(3124-3126)Tta>Gta	p.L1042V	ANK3_ENST00000373827.2_Missense_Mutation_p.L1036V|ANK3_ENST00000503366.1_Missense_Mutation_p.L1043V|ANK3_ENST00000355288.2_Missense_Mutation_p.L176V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1042	ZU5.			MVEGEGLA -> HGERRGIS (in Ref. 1; AAA64834).	establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTACTGGCTAATCCCTCTCCT	0.498000													42	33					0	0	0.014410	0	0
SLC7A9	11136	broad.mit.edu	37	19	33355126	33355126	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:33355126G>A	ENST00000023064.4	-	4	545	c.354C>T	c.(352-354)atC>atT	p.I118I	SLC7A9_ENST00000587772.1_Silent_p.I118I|SLC7A9_ENST00000590341.1_Silent_p.I118I	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	118					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GCTTAATGACGATCAGGCTGG	0.572000													14	16					0	0	0.004007	0	0
PLXDC2	84898	broad.mit.edu	37	10	20568655	20568655	+	Silent	SNP	G	G	A	rs147255630		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:20568655G>A	ENST00000377252.3	+	14	2338	c.1497G>A	c.(1495-1497)gcG>gcA	p.A499A	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Silent_p.A450A	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	499						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GATGGCCTGCGATGAAGTTTA	0.413000													19	23					0	0	0.010504	0	0
NR5A2	2494	broad.mit.edu	37	1	200090082	200090082	+	Splice_Site	SNP	A	A	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:200090082A>C	ENST00000367362.3	+	7	1623	c.1378_splice	c.e7+1	p.L459_splice	NR5A2_ENST00000544748.1_Splice_Site_p.L387_splice|NR5A2_ENST00000236914.3_Splice_Site_p.L413_splice	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	459					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TCTTTAGTTTAGGTAAGAAAT	0.383000													67	25					0	0	0.014410	0	0
MAMDC4	158056	broad.mit.edu	37	9	139749712	139749712	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:139749712C>T	ENST00000445819.1	+	11	1254	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.L402L			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	402	MAM 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCAGATCCTCCTGGCCGGGCA	0.677000													15	18					0	0	0.003163	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101774466	101774466	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:101774466C>T	ENST00000506729.1	-	7	1303		c.e7-1		SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_Splice_Site|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Splice_Site|SLCO6A1_ENST00000379807.3_Splice_Site			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1							integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TCATCAGAATCTGaaataaaa	0.279000													5	14					0	0	0.000602	0	0
YTHDF1	54915	broad.mit.edu	37	20	61833879	61833879	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:61833879C>T	ENST00000370339.3	-	4	1754	c.1413G>A	c.(1411-1413)aaG>aaA	p.K471K	YTHDF1_ENST00000370333.4_Silent_p.K421K|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	471	YTH.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CAAACTTCCCCTTCCACTTGT	0.532000													21	38					0	0	0.008871	0	0
NLRP3	114548	broad.mit.edu	37	1	247582213	247582213	+	Silent	SNP	C	C	T	rs145314485		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:247582213C>T	ENST00000366497.2	+	2	897	c.117C>T	c.(115-117)atC>atT	p.I39I	NLRP3_ENST00000348069.2_Silent_p.I39I|NLRP3_ENST00000391828.3_Silent_p.I39I|NLRP3_ENST00000366496.2_Silent_p.I39I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.I39I|NLRP3_ENST00000336119.3_Silent_p.I39I	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	39	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGGGCTGCATCCCCCTCCCGA	0.572000													36	12					0	0	0.003755	0	0
SI	6476	broad.mit.edu	37	3	164764781	164764781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:164764781G>A	ENST00000264382.3	-	16	1797	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	579	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTCTTATTAGGAAAAACTTTT	0.303000										HNSCC(35;0.089)			5	11					0	0	0.000602	0	0
USE1	55850	broad.mit.edu	37	19	17327013	17327013	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:17327013C>T	ENST00000595101.1	+	4	285	c.267C>T	c.(265-267)ttC>ttT	p.F89F	USE1_ENST00000379776.4_Silent_p.F89F|USE1_ENST00000263897.5_Silent_p.F89F|USE1_ENST00000596136.1_Silent_p.F89F|USE1_ENST00000445667.2_Silent_p.F89F			Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	89					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						CCAACCAGTTCCTGGCCCCTG	0.612000													15	26					0	0	0.006122	0	0
C1orf110	339512	broad.mit.edu	37	1	162829271	162829271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:162829271C>T	ENST00000367912.1	-	2	340	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	C1orf110_ENST00000367910.1_Missense_Mutation_p.E56K|C1orf110_ENST00000367911.2_Missense_Mutation_p.E52K			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	56										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						CTCTGCAGTTCTTTTTGGAGC	0.552000													5	32					0	0	0.000602	0	0
SNHG14	104472715	broad.mit.edu	37	15	25417693	25417693	+	RNA	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:25417693C>T	ENST00000549301.1	+	0	471				SNHG14_ENST00000553149.1_RNA																							GCTCAGCCCTCCCTGGCACTC	0.627000													7	15					0	0	0.001984	0	0
ITGA2B	3674	broad.mit.edu	37	17	42458313	42458313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:42458313G>A	ENST00000262407.5	-	13	1358	c.1327C>T	c.(1327-1329)Ccc>Tcc	p.P443S	ITGA2B_ENST00000377068.3_Missense_Mutation_p.P128S|ITGA2B_ENST00000353281.4_Missense_Mutation_p.P443S	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	443					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GAGCCTGTGGGGAAGGGGCTG	0.637000													30	41					0	0	0.009535	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106108821	106108821	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:106108821C>T	ENST00000357242.5	+	15	2559	c.2385C>T	c.(2383-2385)agC>agT	p.S795S	TBC1D8B_ENST00000276175.3_Silent_p.S789S	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	795						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGAAATTGAGCCTTCAAGAAT	0.289000													17	1					0	0	0.012319	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997240	146997240	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:146997240G>A	ENST00000361727.3	+	9	1872	c.1356G>A	c.(1354-1356)ggG>ggA	p.G452G		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	452	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)			CAGGTTCTGGGTTGAATGATG	0.368000										HNSCC(39;0.1)			21	28					0	0	0.014323	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656543	40656543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:40656543C>T	ENST00000406785.1	-	2	1067	c.878G>A	c.(877-879)gGg>gAg	p.G293E	SLC8A1_ENST00000542756.1_Missense_Mutation_p.G293E|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G293E|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G293E|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G293E|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G293E|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G293E|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G293E|SLC8A1_ENST00000403092.1_Missense_Mutation_p.G293E|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G293E			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	293					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GACCACTTTCCCGTCCATTTC	0.443000													54	66					0	0	0.014410	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								14	23					0	0	0.004990	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525074	150525074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:150525074G>A	ENST00000271643.4	+	4	312	c.76G>A	c.(76-78)Gag>Aag	p.E26K	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.E26K|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.E26K|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.E26K	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	26					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTTGGATCAGGAGGTGAGTTC	0.622000													33	7					0	0	0.004289	0	0
LPO	4025	broad.mit.edu	37	17	56321382	56321382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:56321382C>T	ENST00000262290.4	+	3	420	c.104C>T	c.(103-105)tCc>tTc	p.S35F	LPO_ENST00000543544.1_Intron|LPO_ENST00000421678.2_Intron|LPO_ENST00000582328.1_Intron	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	35					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCTGCCATCTCCGATACTGTG	0.542000													18	17					0	0	0.003330	0	0
CPT1C	126129	broad.mit.edu	37	19	50200633	50200633	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:50200633C>T	ENST00000392518.4	+	4	564	c.192C>T	c.(190-192)ttC>ttT	p.F64F	CPT1C_ENST00000405931.2_Silent_p.F64F|CPT1C_ENST00000323446.5_Silent_p.F64F|CPT1C_ENST00000354199.5_Silent_p.F64F|CPT1C_ENST00000598293.1_Silent_p.F64F	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	64					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GTTGGCTTTTCCTCTTCAGTG	0.547000													23	27					0	0	0.012319	0	0
NLRP2	55655	broad.mit.edu	37	19	55495074	55495074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:55495074G>A	ENST00000543010.1	+	6	2151	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K	NLRP2_ENST00000448584.2_Missense_Mutation_p.E670K|NLRP2_ENST00000263437.6_Missense_Mutation_p.E667K|NLRP2_ENST00000537859.1_Missense_Mutation_p.E648K|NLRP2_ENST00000427260.2_Missense_Mutation_p.E647K|NLRP2_ENST00000538819.1_Missense_Mutation_p.E646K|NLRP2_ENST00000339757.7_Missense_Mutation_p.E648K|NLRP2_ENST00000391721.4_Missense_Mutation_p.E646K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	670					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CACTGCGTCTGAATCAGACGC	0.517000													22	29					0	0	0.004656	0	0
RP1	6101	broad.mit.edu	37	8	55534033	55534033	+	Silent	SNP	G	G	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:55534033G>C	ENST00000220676.1	+	2	655	c.507G>C	c.(505-507)gcG>gcC	p.A169A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	169	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CGAGGCGTGCGGTTCTTCTGA	0.647000													48	65					0	0	0.014410	0	0
FAM83B	222584	broad.mit.edu	37	6	54735174	54735174	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:54735174C>T	ENST00000306858.7	+	2	246	c.130C>T	c.(130-132)Caa>Taa	p.Q44*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	44										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)					AGAAGCATACCAAGAATTTCT	0.378000													23	75					0	0	0.014323	0	0
ARAP3	64411	broad.mit.edu	37	5	141041668	141041668	+	Silent	SNP	A	A	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:141041668A>C	ENST00000239440.4	-	20	3020	c.2955T>G	c.(2953-2955)cgT>cgG	p.R985R	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000513878.1_Silent_p.R647R	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	985	Rho-GAP.				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						CATCGAGCTCACGAAAGAAGC	0.592000													32	41					0	0	0.012213	0	0
FAM73A	374986	broad.mit.edu	37	1	78309059	78309059	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:78309059C>T	ENST00000370791.3	+	8	995	c.963C>T	c.(961-963)atC>atT	p.I321I	FAM73A_ENST00000443751.2_Silent_p.I283I	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	321						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CCTTGAGCATCGCATCCACGG	0.413000													17	27					0	0	0.007413	0	0
CHD1	1105	broad.mit.edu	37	5	98229217	98229217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:98229217C>T	ENST00000284049.3	-	13	2043	c.1894G>A	c.(1894-1896)Gat>Aat	p.D632N		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	632	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GATTTAAAATCTATTAAAGTT	0.368000													21	51					0	0	0.010504	0	0
CATSPERB	79820	broad.mit.edu	37	14	92150271	92150271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:92150271C>T	ENST00000256343.3	-	11	1037	c.881G>A	c.(880-882)gGa>gAa	p.G294E		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	294					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CCACAGTTTTCCTTTCACATA	0.254000													31	29					0	0	0.013726	0	0
TC2N	123036	broad.mit.edu	37	14	92268712	92268712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:92268712G>A	ENST00000435962.2	-	4	678	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	TC2N_ENST00000340892.5_Nonsense_Mutation_p.Q119*|TC2N_ENST00000360594.5_Nonsense_Mutation_p.Q119*|TC2N_ENST00000556018.1_Nonsense_Mutation_p.Q119*	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	119						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GGTCCGTGCTGGGATGAACTG	0.418000													13	26					0	0	0.003163	0	0
C12orf54	121273	broad.mit.edu	37	12	48888715	48888715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:48888715G>A	ENST00000314014.2	+	8	508	c.377G>A	c.(376-378)gGa>gAa	p.G126E	RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548364.1_Missense_Mutation_p.G126E	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	126										endometrium(1)|large_intestine(4)	5						TACTACCCTGGACCCTAACTC	0.517000													25	20					0	0	0.007291	0	0
SGSM1	129049	broad.mit.edu	37	22	25313627	25313627	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr22:25313627C>T	ENST00000400358.4	+	23	2988	c.2931C>T	c.(2929-2931)atC>atT	p.I977I	SGSM1_ENST00000400359.4_Silent_p.I1032I	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1032	Rab-GAP TBC.					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						CTTGACAGATCCTGGACTCAG	0.507000													14	12					0	0	0.001855	0	0
OR4K1	79544	broad.mit.edu	37	14	20404458	20404458	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:20404458C>T	ENST00000285600.4	+	1	692	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	211					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)		TGAGCTGTTTCCTGGCTTTAA	0.438000													13	45					0	0	0.001855	0	0
ABCE1	6059	broad.mit.edu	37	4	146044172	146044172	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:146044172G>A	ENST00000296577.4	+	14	1778		c.e14-1		OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_Splice_Site	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1						interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					ATTAAAAACAGGGAAGTGTTC	0.303000													8	9					0	0	0.003080	0	0
DCAF6	55827	broad.mit.edu	37	1	168007709	168007709	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:168007709G>A	ENST00000367840.3	+	13	1804	c.1710G>A	c.(1708-1710)ctG>ctA	p.L570L	DCAF6_ENST00000367843.3_Silent_p.L513L|DCAF6_ENST00000312263.6_Silent_p.L493L|DCAF6_ENST00000432587.2_Silent_p.L539L	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	535					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CAATAAAACTGAACTTTACAG	0.328000													46	23					0	0	0.013114	0	0
MUC6	4588	broad.mit.edu	37	11	1017355	1017355	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:1017355T>G	ENST00000421673.2	-	31	5496	c.5446A>C	c.(5446-5448)Act>Cct	p.T1816P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1816	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATGTTGCAGTGACAGGACCT	0.587000													65	547					0	0	0.014410	0	0
AGTR1	185	broad.mit.edu	37	3	148459199	148459199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:148459199G>A	ENST00000542281.1	+	4	823	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	AGTR1_ENST00000404754.2_Missense_Mutation_p.R126Q|AGTR1_ENST00000349243.3_Missense_Mutation_p.R126Q|AGTR1_ENST00000402260.1_Missense_Mutation_p.R126Q|AGTR1_ENST00000474935.1_Missense_Mutation_p.R126Q|AGTR1_ENST00000497524.1_Missense_Mutation_p.R126Q|AGTR1_ENST00000461609.1_Missense_Mutation_p.R126Q|AGTR1_ENST00000418473.2_Missense_Mutation_p.R126Q|AGTR1_ENST00000475347.1_Missense_Mutation_p.R126Q	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	126					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AGCATTGATCGATACCTGGCT	0.507000													39	57					0	0	0.006999	0	0
BLK	640	broad.mit.edu	37	8	11418875	11418875	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:11418875A>G	ENST00000259089.4	+	11	1686	c.1094A>G	c.(1093-1095)aAc>aGc	p.N365S	BLK_ENST00000529894.1_Missense_Mutation_p.N294S	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	365	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CGGGCGGCCAACATCCTGGTG	0.557000													6	10					0	0	0.001168	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123163155	123163155	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:123163155G>A	ENST00000349780.4	-	35	5495	c.5316C>T	c.(5314-5316)caC>caT	p.H1772H	CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360822.3_Silent_p.H1740H|CDK5RAP2_ENST00000359309.3_Silent_p.H1731H|CDK5RAP2_ENST00000360190.4_Silent_p.H1693H	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1772	Interaction with PCNT and AKAP9.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GTGGTGCTGGGTGTGGACCCT	0.512000													11	20					0	0	0.013537	0	0
CHCHD7	79145	broad.mit.edu	37	8	57129894	57129894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:57129894C>T	ENST00000523975.1	+	5	342	c.194C>T	c.(193-195)tCt>tTt	p.S65F	CHCHD7_ENST00000355315.3_Missense_Mutation_p.S53F|CHCHD7_ENST00000396723.5_Missense_Mutation_p.S62F|CHCHD7_ENST00000521831.1_3'UTR|CHCHD7_ENST00000518801.1_3'UTR|CHCHD7_ENST00000519367.1_3'UTR|CHCHD7_ENST00000521524.1_3'UTR|CHCHD7_ENST00000523061.1_Silent_p.L45L|CHCHD7_ENST00000303759.3_Missense_Mutation_p.S78F			Q9BUK0	CHCH7_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 7	53									CHCHD7/PLAG1(12)	endometrium(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)			ACACAGAATTCTATCGTGATG	0.368000			T	PLAG1	salivary adenoma								7	12					0	0	0.001984	0	0
CNTN3	5067	broad.mit.edu	37	3	74350817	74350817	+	Silent	SNP	A	A	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:74350817A>G	ENST00000263665.6	-	14	1953	c.1926T>C	c.(1924-1926)ggT>ggC	p.G642G		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	642	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CGGTTTGCCAACCCACGGAGA	0.458000													16	22					0	0	0.006122	0	0
OC90	729330	broad.mit.edu	37	8	133044159	133044159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:133044159C>T	ENST00000262283.5	-	16	1735	c.1636G>A	c.(1636-1638)Gga>Aga	p.G546R	OC90_ENST00000443356.2_Missense_Mutation_p.G350R|OC90_ENST00000254627.3_Missense_Mutation_p.G334R|OC90_ENST00000603859.1_Missense_Mutation_p.G334R			Q02509	OC90_HUMAN	otoconin 90	350					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TCGCCTCTTCCTTCTTGTCCA	0.542000													26	23					0	0	0.005443	0	0
FGB	2244	broad.mit.edu	37	4	155486985	155486985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:155486985G>A	ENST00000302068.4	+	2	203	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	47	Beta-chain polymerization, binding distal domain of another fibrin.		Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CGTGGTCATCGACCCCTTGAC	0.522000													15	15					0	0	0.004007	0	0
DNAH5	1767	broad.mit.edu	37	5	13901523	13901523	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:13901523G>A	ENST00000265104.4	-	14	1994	c.1890C>T	c.(1888-1890)gcC>gcT	p.A630A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	630	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)					AGAGCTGGCGGGCCCACAAAA	0.502000									Kartagener syndrome				12	9					0	0	0.001855	0	0
ZNF101	94039	broad.mit.edu	37	19	19788777	19788777	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:19788777C>T	ENST00000592502.1	+	2	218	c.108C>T	c.(106-108)acC>acT	p.T36T	ZNF101_ENST00000415784.2_5'UTR|ZNF101_ENST00000444249.2_Silent_p.T36T			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CGCTGGAAACCTTCAGGAACC	0.498000													17	31					0	0	0.004990	0	0
POM121L12	285877	broad.mit.edu	37	7	53103700	53103700	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:53103700C>T	ENST00000408890.4	+	1	352	c.336C>T	c.(334-336)ctC>ctT	p.L112L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	112										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGCGAGACCTCTCCTGTGCCT	0.721000													15	13					0	0	0.004007	0	0
KRAS	3845	broad.mit.edu	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	rs121913240		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:25380276T>C	ENST00000311936.3	-	3	373	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GTACTCCTCTTGACCTGCTGT	0.418000	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			11	12					0	0	0.010729	0	0
LRP6	4040	broad.mit.edu	37	12	12318150	12318150	+	Missense_Mutation	SNP	C	C	T	rs139800650		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:12318150C>T	ENST00000261349.4	-	8	1701	c.1625G>A	c.(1624-1626)gGt>gAt	p.G542D	LRP6_ENST00000543091.1_Missense_Mutation_p.G542D	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	542	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AACATAGTCACCCAACAAAGT	0.423000													161	217					0	0	0.014410	0	0
ISM1	140862	broad.mit.edu	37	20	13260312	13260312	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:13260312C>T	ENST00000262487.3	+	3	416	c.410C>T	c.(409-411)tCt>tTt	p.S137F	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	137						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GGTCCTGACTCTGAAGCAGAT	0.577000													10	10					0	0	0.006214	0	0
PAPPA	5069	broad.mit.edu	37	9	118997498	118997498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:118997498C>T	ENST00000328252.3	+	7	2683	c.2314C>T	c.(2314-2316)Cct>Tct	p.P772S	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	772					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						ACACACGGTTCCTCCAGCCTG	0.562000													27	27					0	0	0.003954	0	0
CLDN2	9075	broad.mit.edu	37	X	106171614	106171614	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:106171614G>A	ENST00000541806.1	+	2	675	c.156G>A	c.(154-156)atG>atA	p.M52I	CLDN2_ENST00000336803.1_Missense_Mutation_p.M52I|CLDN2_ENST00000540876.1_Missense_Mutation_p.M52I	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	52					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GCCTCTGGATGGAATGTGCCA	0.572000													36	3					0	0	0.005524	0	0
COL4A2	1284	broad.mit.edu	37	13	111164316	111164316	+	Silent	SNP	A	A	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:111164316A>C	ENST00000360467.5	+	48	5223	c.4917A>C	c.(4915-4917)tcA>tcC	p.S1639S		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1639	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GTGGCCAATCACTGGTGTCAC	0.632000													32	19					0	0	0.004289	0	0
EYA2	2139	broad.mit.edu	37	20	45702837	45702837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:45702837C>T	ENST00000327619.5	+	7	898	c.524C>T	c.(523-525)cCc>cTc	p.P175L	EYA2_ENST00000357410.3_Missense_Mutation_p.P175L|EYA2_ENST00000317304.6_Missense_Mutation_p.P175L	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	175					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)				AGCCAGTACCCCCAGTATTAC	0.592000													37	29					0	0	0.009718	0	0
P2RY10	27334	broad.mit.edu	37	X	78216809	78216809	+	Silent	SNP	T	T	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:78216809T>A	ENST00000171757.2	+	4	1072	c.792T>A	c.(790-792)atT>atA	p.I264I	P2RY10_ENST00000544091.1_Silent_p.I264I	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	264						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.I264M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TTAACTTTATTTTTTACACCA	0.453000													53	1					0	0	0.014410	0	0
RORB	6096	broad.mit.edu	37	9	77286797	77286797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:77286797G>A	ENST00000376896.2	+	9	1816	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	RORB_ENST00000396204.2_Missense_Mutation_p.D413N	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	413	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						GAATCACCTGGATGATGAGAC	0.433000													11	13					0	0	0.010729	0	0
OR6B3	150681	broad.mit.edu	37	2	240984890	240984890	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:240984890G>A	ENST00000319423.4	-	1	599	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AGGCCAGAATGAAATCCACCA	0.572000													10	16					0	0	0.006214	0	0
CYP19A1	1588	broad.mit.edu	37	15	51514633	51514633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:51514633C>T	ENST00000396402.1	-	5	694	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	CYP19A1_ENST00000396404.4_Missense_Mutation_p.E181K|CYP19A1_ENST00000559878.1_Missense_Mutation_p.E181K|CYP19A1_ENST00000260433.2_Missense_Mutation_p.E181K|CYP19A1_ENST00000557858.1_Missense_Mutation_p.E181K|CYP19A1_ENST00000405913.3_Missense_Mutation_p.E181K|RP11-108K3.1_ENST00000559909.1_lincRNA	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	181					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TAGCCCGATTCATTGGTCACC	0.522000													16	20					0	0	0.004007	0	0
SYT1	6857	broad.mit.edu	37	12	79689912	79689912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:79689912C>T	ENST00000261205.4	+	7	1195	c.538C>T	c.(538-540)Cct>Tct	p.P180S	SYT1_ENST00000552744.1_Missense_Mutation_p.P180S|SYT1_ENST00000393240.3_Missense_Mutation_p.P180S|SYT1_ENST00000457153.2_Missense_Mutation_p.P177S	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	180	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.P180S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CACATCTGATCCTTACGTGAA	0.423000													27	23					0	0	0.012213	0	0
SACS	26278	broad.mit.edu	37	13	23909019	23909019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:23909019G>A	ENST00000382298.3	-	10	9584	c.8996C>T	c.(8995-8997)cCa>cTa	p.P2999L	SACS_ENST00000402364.1_Missense_Mutation_p.P2249L|SACS_ENST00000382292.3_Missense_Mutation_p.P2999L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2999					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)		ATCAATATTTGGAGCCCGCAC	0.363000													50	26					0	0	0.014410	0	0
USP6	9098	broad.mit.edu	37	17	5058874	5058874	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:5058874A>C	ENST00000574788.1	+	31	5031	c.2801A>C	c.(2800-2802)cAg>cCg	p.Q934P	USP6_ENST00000250066.6_Missense_Mutation_p.Q934P|USP6_ENST00000304328.5_Missense_Mutation_p.Q617P|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	934					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTCCCACCTCAGGAAGCTAGT	0.428000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								27	27					0	0	0.006320	0	0
TRHDE	29953	broad.mit.edu	37	12	73012696	73012696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:73012696C>T	ENST00000261180.4	+	13	2308	c.2212C>T	c.(2212-2214)Cct>Tct	p.P738S	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	738					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						TCAGAATATTCCTCTGGAGAT	0.393000													20	21					0	0	0.002780	0	0
OR1L4	254973	broad.mit.edu	37	9	125486832	125486832	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:125486832C>T	ENST00000259466.1	+	1	564	c.564C>T	c.(562-564)ctC>ctT	p.L188L		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGCTAAAGCTCTCCTGCTCTG	0.498000													54	114					0	0	0.014410	0	0
GABRA6	2559	broad.mit.edu	37	5	161116303	161116303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:161116303C>T	ENST00000523217.1	+	5	702	c.460C>T	c.(460-462)Cct>Tct	p.P154S	GABRA6_ENST00000274545.5_Missense_Mutation_p.P164S|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	164					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTTAACTTTCCTATGGATGG	0.388000										TCGA Ovarian(5;0.080)			19	29					0	0	0.014323	0	0
SATB1	6304	broad.mit.edu	37	3	18393686	18393686	+	Splice_Site	SNP	C	C	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:18393686C>G	ENST00000338745.6	-	10	3311	c.1575_splice	c.e10-1	p.G526_splice	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Splice_Site_p.G526_splice|SATB1_ENST00000454909.2_Splice_Site_p.G526_splice	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	526					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCACAACCATCCCTTAGAGAC	0.453000													13	16					0	0	0.013537	0	0
OR6C75	390323	broad.mit.edu	37	12	55759573	55759573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:55759573C>T	ENST00000343399.3	+	1	679	c.679C>T	c.(679-681)Cct>Tct	p.P227S		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	227					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						TCTGAAAATTCCTTCTATGAG	0.383000													23	25					0	0	0.014323	0	0
CMTM5	116173	broad.mit.edu	37	14	23847703	23847703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:23847703C>T	ENST00000359320.3	+	2	716	c.272C>T	c.(271-273)cCc>cTc	p.P91L	CMTM5_ENST00000339180.4_Missense_Mutation_p.P91L|CMTM5_ENST00000382809.2_Missense_Mutation_p.P91L|CMTM5_ENST00000555731.1_Missense_Mutation_p.P53L|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000397227.3_Intron	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	91	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		ATTAACTGGCCCTGTCTGGTG	0.552000													45	46					0	0	0.014410	0	0
PLCB3	5331	broad.mit.edu	37	11	64026180	64026180	+	Silent	SNP	G	G	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:64026180G>T	ENST00000540288.1	+	11	1351	c.1248G>T	c.(1246-1248)gtG>gtT	p.V416V	PLCB3_ENST00000325234.5_Silent_p.V349V|PLCB3_ENST00000279230.6_Silent_p.V416V	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	416	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGAACCATGTGGACTCGTGAG	0.612000													27	33					1.39806e-14	1.59368e-14	0.008361	1	0
CNTN5	53942	broad.mit.edu	37	11	100211914	100211914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:100211914G>A	ENST00000524871.1	+	23	3297	c.3007G>A	c.(3007-3009)Gaa>Aaa	p.E1003K	CNTN5_ENST00000279463.3_Missense_Mutation_p.E1003K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.E929K|CNTN5_ENST00000528682.1_Missense_Mutation_p.E1003K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1003	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATTAGCCAACGAATCTGAAGT	0.433000													33	49					0	0	0.003271	0	0
PTCH1	5727	broad.mit.edu	37	9	98209210	98209210	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:98209210C>A	ENST00000430669.2	-	23	4715	c.4130G>T	c.(4129-4131)gGa>gTa	p.G1377V	PTCH1_ENST00000421141.1_Missense_Mutation_p.G1292V|PTCH1_ENST00000331920.6_Missense_Mutation_p.G1443V|PTCH1_ENST00000429896.2_Missense_Mutation_p.G1292V|PTCH1_ENST00000375274.2_Missense_Mutation_p.G1442V|PTCH1_ENST00000418258.1_Missense_Mutation_p.G1292V|PTCH1_ENST00000437951.1_Missense_Mutation_p.G1377V			Q13635	PTC1_HUMAN	patched 1	1443					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)				GGAGCTGCTTCCCCGGGGCCT	0.612000													37	43					1.00953e-15	1.15375e-15	0.013114	1	0
GPR139	124274	broad.mit.edu	37	16	20043949	20043949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:20043949C>T	ENST00000570682.1	-	2	470	c.170G>A	c.(169-171)aGa>aAa	p.R57K		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	57						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						CTTCTGTCTTCTTGCCACCAG	0.463000													19	25					0	0	0.014323	0	0
FREM2	341640	broad.mit.edu	37	13	39263707	39263707	+	Silent	SNP	G	G	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:39263707G>C	ENST00000280481.7	+	1	2442	c.2226G>C	c.(2224-2226)gtG>gtC	p.V742V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	742					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTTACACAGTGACTCAGTCCC	0.542000													11	31					0	0	0.013537	0	0
FBLN7	129804	broad.mit.edu	37	2	112945036	112945036	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:112945036A>G	ENST00000331203.2	+	8	1544	c.1273A>G	c.(1273-1275)Aac>Gac	p.N425D	FBLN7_ENST00000409667.3_Missense_Mutation_p.N291D|FBLN7_ENST00000409450.3_Missense_Mutation_p.N379D|FBLN7_ENST00000409903.1_Silent_p.P340P	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	425					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTTCCAGGCCAACCACGTGTC	0.582000													45	64					0	0	0.014410	0	0
LYST	1130	broad.mit.edu	37	1	235969062	235969062	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:235969062T>C	ENST00000389794.3	-	6	3548	c.3374A>G	c.(3373-3375)gAa>gGa	p.E1125G	LYST_ENST00000536965.1_Missense_Mutation_p.E1125G|LYST_ENST00000389793.2_Missense_Mutation_p.E1125G			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1125					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TAACTCCAATTCCATCTTCTG	0.348000													56	19					0	0	0.014410	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94913509	94913509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:94913509C>T	ENST00000289495.5	+	15	3572	c.3356C>T	c.(3355-3357)tCa>tTa	p.S1119L	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S1137L|PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S1159L|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S1137L|PPP1R9A_ENST00000340694.4_Intron	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	913						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACTCTAATTTCAGATAAAAAG	0.438000										HNSCC(28;0.073)			10	23					0	0	0.010729	0	0
HERC4	26091	broad.mit.edu	37	10	69684878	69684878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:69684878G>A	ENST00000395198.3	-	25	3176	c.2929C>T	c.(2929-2931)Cac>Tac	p.H977Y	HERC4_ENST00000373700.4_Missense_Mutation_p.H969Y|HERC4_ENST00000412272.2_Missense_Mutation_p.H899Y|HERC4_ENST00000277817.6_Missense_Mutation_p.H867Y|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	977	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						GGTAATTCGTGAAATACTTCC	0.284000													15	14					0	0	0.007413	0	0
LMO3	55885	broad.mit.edu	37	12	16704206	16704206	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:16704206C>G	ENST00000320122.6	-	4	910	c.388G>C	c.(388-390)Gac>Cac	p.D130H	LMO3_ENST00000535535.1_Missense_Mutation_p.D130H|LMO3_ENST00000534946.1_Missense_Mutation_p.D130H|LMO3_ENST00000541846.1_Missense_Mutation_p.D130H|LMO3_ENST00000447609.1_Missense_Mutation_p.D130H|LMO3_ENST00000441439.2_Missense_Mutation_p.D130H|LMO3_ENST00000541295.1_Missense_Mutation_p.D148H|LMO3_ENST00000540848.1_Missense_Mutation_p.D130H|LMO3_ENST00000354662.1_Missense_Mutation_p.D130H|LMO3_ENST00000540445.1_Missense_Mutation_p.D152H|LMO3_ENST00000261169.6_Missense_Mutation_p.D141H|LMO3_ENST00000537304.1_Missense_Mutation_p.D130H	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	130	LIM zinc-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				TCCTCGTAGTCCGTCTGGCAA	0.348000													19	25					0	0	0.008871	0	0
ZFP64	55734	broad.mit.edu	37	20	50701144	50701144	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:50701144G>A	ENST00000361387.2	-	9	1950	c.1890C>T	c.(1888-1890)gtC>gtT	p.V630V	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.V411V	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCCCACGGAGACCAGGGTGC	0.602000													21	22					0	0	0.003330	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089998	43089998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:43089998G>A	ENST00000359467.3	-	5	514	c.400C>T	c.(400-402)Cct>Tct	p.P134S	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	134						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTTCTGGAAGGAAAAGAACTT	0.328000													11	21					0	0	0.008291	0	0
OSBPL5	114879	broad.mit.edu	37	11	3123489	3123489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:3123489G>A	ENST00000263650.7	-	12	1508	c.1349C>T	c.(1348-1350)cCc>cTc	p.P450L	OSBPL5_ENST00000542243.1_Missense_Mutation_p.P81L|OSBPL5_ENST00000389989.3_Missense_Mutation_p.P382L|OSBPL5_ENST00000525498.1_Missense_Mutation_p.P361L|OSBPL5_ENST00000348039.5_Missense_Mutation_p.P382L	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	450					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCCCAGGATGGGGTTGTACGG	0.592000													6	4					0	0	0.004482	0	0
CYLC1	1538	broad.mit.edu	37	X	83126562	83126562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:83126562C>T	ENST00000329312.4	+	3	198	c.161C>T	c.(160-162)tCa>tTa	p.S54L		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	54				S -> G (in Ref. 3; CAA80457).	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						CCTTTGAAATCACAAATAACA	0.299000													17	6					0	0	0.004990	0	0
SLC13A2	9058	broad.mit.edu	37	17	26816349	26816349	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:26816349G>A	ENST00000537681.1	+	0	336				SLC13A2_ENST00000444914.3_Missense_Mutation_p.D74N|SLC13A2_ENST00000314669.5_Missense_Mutation_p.D74N|SLC13A2_ENST00000545060.1_Intron			Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2							integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GGGCATCGTGGATGCCTCTGA	0.607000													11	21					0	0	0.008291	0	0
RPE65	6121	broad.mit.edu	37	1	68905294	68905294	+	Silent	SNP	G	G	A	rs114379164	byFrequency	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:68905294G>A	ENST00000262340.5	-	7	728	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	225					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ATTGTACAACGATCTCTGACT	0.363000													13	35					0	0	0.003163	0	0
BDKRB2	624	broad.mit.edu	37	14	96703490	96703490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:96703490G>A	ENST00000306005.3	+	2	242	c.46G>A	c.(46-48)Gac>Aac	p.D16N	RP11-404P21.8_ENST00000553811.1_Missense_Mutation_p.D16N|BDKRB2_ENST00000542454.2_5'UTR|BDKRB2_ENST00000539359.1_5'UTR|BDKRB2_ENST00000554311.1_Missense_Mutation_p.D16N	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	16					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)		TGTTCGTGAGGACTCCGTGCC	0.527000													27	30					0	0	0.006320	0	0
FLG2	388698	broad.mit.edu	37	1	152326763	152326763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:152326763C>T	ENST00000388718.5	-	3	3571	c.3499G>A	c.(3499-3501)Ggc>Agc	p.G1167S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1167	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)			TCATGTTGGCCACAGCCAGAT	0.488000													90	43					0	0	0.014410	0	0
RPP38	10557	broad.mit.edu	37	10	15145764	15145764	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:15145764A>G	ENST00000378197.4	+	3	965	c.451A>G	c.(451-453)Agc>Ggc	p.S151G	RPP38_ENST00000378202.5_Missense_Mutation_p.S151G|NMT2_ENST00000466201.1_Intron|RPP38_ENST00000451677.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	151					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						GATTCAGTTAAGCCTAAGCAG	0.498000													19	15					0	0	0.008871	0	0
GLYATL2	219970	broad.mit.edu	37	11	58605804	58605804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:58605804G>A	ENST00000287275.1	-	3	506	c.116C>T	c.(115-117)cCt>cTt	p.P39L	GLYATL2_ENST00000532258.1_Missense_Mutation_p.P39L|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	39						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CATGTTGAAAGGGTTTTTATC	0.428000													16	23					0	0	0.004990	0	0
EPHA1	2041	broad.mit.edu	37	7	143095042	143095042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:143095042G>A	ENST00000275815.3	-	8	1672	c.1586C>T	c.(1585-1587)cCt>cTt	p.P529L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	529	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTCATGATCAGGGGAGAAAGG	0.567000													17	20					0	0	0.004007	0	0
CNGB1	1258	broad.mit.edu	37	16	57931789	57931789	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:57931789G>A	ENST00000564448.1	-	30	3048	c.2988C>T	c.(2986-2988)atC>atT	p.I996I	CNGB1_ENST00000251102.8_Silent_p.I1002I			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1002					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						GCCCTGCCTGGATGATGTACA	0.547000													72	10					0	0	0.014410	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94827677	94827677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:94827677G>A	ENST00000289495.5	+	5	1987	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E591K|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E591K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E591K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E591K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E591K|AC002429.5_ENST00000417881.2_RNA	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	591	PDZ.					cell junction|synapse|synaptosome	actin binding	p.E591*(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TATTGGGCGGGAAAAACCAGG	0.448000										HNSCC(28;0.073)			32	34					0	0	0.009535	0	0
PCDHA13	56136	broad.mit.edu	37	5	140264206	140264206	+	Missense_Mutation	SNP	G	G	A	rs116377419	byFrequency	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140264206G>A	ENST00000289272.2	+	1	2353	c.2353G>A	c.(2353-2355)Gga>Aga	p.G785R	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G785R|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGCAGAGGGAACAGGCCA	0.522000													14	21					0	0	0.004990	0	0
ZNF213	7760	broad.mit.edu	37	16	3187497	3187497	+	Silent	SNP	C	C	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:3187497C>G	ENST00000396878.3	+	2	691	c.216C>G	c.(214-216)cgC>cgG	p.R72R	ZNF213_ENST00000416391.2_5'UTR|ZNF213_ENST00000576416.1_Silent_p.R72R|ZNF213_ENST00000574902.1_Silent_p.R72R	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	72	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						TCTGCTGCCGCTGGCTGCGGC	0.657000													14	22					0	0	0.002450	0	0
OR6C76	390326	broad.mit.edu	37	12	55820418	55820418	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:55820418G>A	ENST00000328314.3	+	1	381	c.381G>A	c.(379-381)ctG>ctA	p.L127L		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTAAGCCTCTGCATTATACAA	0.443000													32	49					0	0	0.012213	0	0
MYO1E	4643	broad.mit.edu	37	15	59510172	59510172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:59510172G>A	ENST00000288235.4	-	10	1424	c.1025C>T	c.(1024-1026)aCc>aTc	p.T342I		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	342	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TACGTTGAGGGTCACGTGGAT	0.527000													39	55					0	0	0.005524	0	0
GUCY2C	2984	broad.mit.edu	37	12	14766069	14766069	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:14766069C>T	ENST00000261170.3	-	27	3340	c.3204G>A	c.(3202-3204)aaG>aaA	p.K1068K	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1068					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGGTGCTCTCCTTGTCTGTGG	0.438000													55	46					0	0	0.014410	0	0
LPHN2	23266	broad.mit.edu	37	1	82434923	82434923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:82434923C>T	ENST00000370728.1	+	17	3218	c.2573C>T	c.(2572-2574)tCc>tTc	p.S858F	LPHN2_ENST00000335786.5_Missense_Mutation_p.S858F|LPHN2_ENST00000319517.6_Missense_Mutation_p.S845F|LPHN2_ENST00000271029.4_Missense_Mutation_p.S858F|LPHN2_ENST00000359929.3_Missense_Mutation_p.S845F|LPHN2_ENST00000370727.1_Missense_Mutation_p.S858F|LPHN2_ENST00000370717.2_Missense_Mutation_p.S858F|LPHN2_ENST00000370730.1_Missense_Mutation_p.S858F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.S845F|LPHN2_ENST00000370713.1_Missense_Mutation_p.S845F|LPHN2_ENST00000370715.1_Missense_Mutation_p.S845F|LPHN2_ENST00000370721.1_Missense_Mutation_p.S783F|LPHN2_ENST00000370723.1_Missense_Mutation_p.S845F|LPHN2_ENST00000370725.1_Missense_Mutation_p.S858F			O95490	LPHN2_HUMAN	latrophilin 2	858					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATTGTCATTTCCCTTGTTTGC	0.398000													55	72					0	0	0.014410	0	0
NTNG1	22854	broad.mit.edu	37	1	107867445	107867445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:107867445G>A	ENST00000370067.1	+	3	1415	c.788G>A	c.(787-789)aGg>aAg	p.R263K	NTNG1_ENST00000370061.3_Missense_Mutation_p.R263K|NTNG1_ENST00000370074.4_Missense_Mutation_p.R263K|NTNG1_ENST00000370073.2_Missense_Mutation_p.R263K|NTNG1_ENST00000370066.1_Missense_Mutation_p.R263K|NTNG1_ENST00000542803.1_Missense_Mutation_p.R263K|NTNG1_ENST00000370065.1_Missense_Mutation_p.R263K|NTNG1_ENST00000370071.2_Missense_Mutation_p.R263K|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370072.3_Missense_Mutation_p.R263K|NTNG1_ENST00000370068.1_Missense_Mutation_p.R263K|NTNG1_ENST00000370070.2_Missense_Mutation_p.R263K			Q9Y2I2	NTNG1_HUMAN	netrin G1	263	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACAGACCTGAGGATAAGGCTG	0.478000													17	15					0	0	0.006122	0	0
BRCA2	675	broad.mit.edu	37	13	32907431	32907431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:32907431C>T	ENST00000544455.1	+	10	2043	c.1816C>T	c.(1816-1818)Ccg>Tcg	p.P606S	BRCA2_ENST00000380152.3_Missense_Mutation_p.P606S	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	606					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAAAAATACCGAAAGACCA	0.318000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			25	7					0	0	0.002780	0	0
BHMT	635	broad.mit.edu	37	5	78423682	78423682	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:78423682T>C	ENST00000274353.5	+	7	1020	c.913T>C	c.(913-915)Tac>Cac	p.Y305H	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Missense_Mutation_p.Y152H	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	305	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	ATTTGAGCCCTACCACATCAG	0.542000													14	19					0	0	0.001855	0	0
ADAM7	8756	broad.mit.edu	37	8	24346766	24346766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:24346766C>T	ENST00000175238.6	+	12	1269	c.1186C>T	c.(1186-1188)Cct>Tct	p.P396S	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.P396S|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.P168S	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	396					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)		CATTCCATTTCCTTACAATTT	0.403000													14	13					0	0	0.003163	0	0
SEPT12	124404	broad.mit.edu	37	16	4828112	4828112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:4828112G>A	ENST00000268231.8	-	9	1113	c.850C>T	c.(850-852)Cct>Tct	p.P284S	SEPT12_ENST00000396693.5_Missense_Mutation_p.P238S	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	284					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CTCAGGAGAGGAAATTCACAG	0.602000													15	15					0	0	0.006122	0	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138711564	138711564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:138711564G>A	ENST00000275766.1	-	4	787	c.776C>T	c.(775-777)tCg>tTg	p.S259L		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	259										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						ATGCTCAGTCGAAGGTGATGA	0.507000													16	18					0	0	0.004007	0	0
WIPF3	644150	broad.mit.edu	37	7	29927732	29927732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:29927732C>T	ENST00000409290.1	+	5	1148	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	WIPF3_ENST00000242140.5_Missense_Mutation_p.S383L|WIPF3_ENST00000409123.1_Missense_Mutation_p.S383L	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	383										breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						CCTGCGAGATCACCTACCACA	0.567000													10	7					0	0	0.008291	0	0
SH2D1B	117157	broad.mit.edu	37	1	162381717	162381717	+	Silent	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:162381717T>C	ENST00000367929.2	-	1	199	c.90A>G	c.(88-90)ttA>ttG	p.L30L	SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Silent_p.L30L	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	30	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CGCTGTCTCTTAAAAGAAAGT	0.507000													21	75					0	0	0.002780	0	0
SLC5A9	200010	broad.mit.edu	37	1	48701515	48701515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:48701515G>A	ENST00000236495.5	+	11	1381	c.1331G>A	c.(1330-1332)aGg>aAg	p.R444K	SLC5A9_ENST00000438567.2_Missense_Mutation_p.R419K|SLC5A9_ENST00000533824.1_Missense_Mutation_p.R440K|SLC5A9_ENST00000420136.2_3'UTR	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	419						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CGCTTCCGCAGGAAGTCAACA	0.607000													23	36					0	0	0.003954	0	0
ADAM20	8748	broad.mit.edu	37	14	70989629	70989629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:70989629G>A	ENST00000256389.3	-	2	2240	c.1996C>T	c.(1996-1998)Cca>Tca	p.P666S	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	616					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ATCTTTTCTGGACCACATACT	0.468000													64	81					0	0	0.014410	0	0
SNRNP200	23020	broad.mit.edu	37	2	96950138	96950138	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:96950138G>A	ENST00000323853.5	-	31	4427	c.4350C>T	c.(4348-4350)ctC>ctT	p.L1450L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1450	Helicase ATP-binding 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCACCACGAAGAGGTTGATGT	0.562000													17	22					0	0	0.008871	0	0
TMC5	79838	broad.mit.edu	37	16	19455440	19455440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:19455440C>T	ENST00000396229.2	+	4	1575	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	TMC5_ENST00000541464.1_Missense_Mutation_p.R276C|TMC5_ENST00000381414.4_Missense_Mutation_p.R276C|TMC5_ENST00000542583.2_Missense_Mutation_p.R276C	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	276						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCCTCATTTCGTCACAGGAG	0.463000													34	26					0	0	0.004289	0	0
EXPH5	23086	broad.mit.edu	37	11	108409812	108409812	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:108409812G>A	ENST00000265843.4	-	3	492	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	EXPH5_ENST00000525344.1_Silent_p.L121L|EXPH5_ENST00000428840.1_Silent_p.L52L	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	128					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AATGAGAACAGGGAAGCAAAT	0.408000													43	36					0	0	0.013114	0	0
MGAT4A	11320	broad.mit.edu	37	2	99272821	99272821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:99272821C>T	ENST00000393487.1	-	7	1005	c.692G>A	c.(691-693)aGa>aAa	p.R231K	MGAT4A_ENST00000264968.2_Missense_Mutation_p.R231K|MGAT4A_ENST00000409391.1_Missense_Mutation_p.R231K|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000414521.2_Missense_Mutation_p.R103K	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	231					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						TCACCTTACTCTTTCTTTGGA	0.368000													48	65					0	0	0.014410	0	0
ATP1A3	478	broad.mit.edu	37	19	42492161	42492161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:42492161C>T	ENST00000545399.1	-	4	476	c.323G>A	c.(322-324)tGg>tAg	p.W108*	ATP1A3_ENST00000602133.1_Nonsense_Mutation_p.W65*|ATP1A3_ENST00000302102.5_Nonsense_Mutation_p.W95*|ATP1A3_ENST00000543770.1_Nonsense_Mutation_p.W106*	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	95					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGCCCCGATCCACAGCAGGAT	0.652000													41	51					0	0	0.011902	0	0
MFSD4	148808	broad.mit.edu	37	1	205561299	205561299	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:205561299T>C	ENST00000367147.4	+	7	1274	c.1181T>C	c.(1180-1182)cTt>cCt	p.L394P	MFSD4_ENST00000539267.1_Missense_Mutation_p.L394P|MFSD4_ENST00000536357.1_Missense_Mutation_p.L307P	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	394					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CTGGTGCTGCTTATTTTCTCC	0.597000											OREG0014160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	73					0	0	0.014323	0	0
GPR155	151556	broad.mit.edu	37	2	175333794	175333794	+	Splice_Site	SNP	A	A	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:175333794A>T	ENST00000392552.2	-	5	1266	c.1026_splice	c.e5-1	p.I343_splice	GPR155_ENST00000392551.2_Splice_Site_p.I343_splice|GPR155_ENST00000295500.4_Splice_Site_p.I343_splice	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	343					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CCCTGAGGTTATCTGCAAAAA	0.378000													15	13					0	0	0.004007	0	0
ITGB5	3693	broad.mit.edu	37	3	124536493	124536493	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:124536493A>T	ENST00000296181.4	-	8	1399	c.1103T>A	c.(1102-1104)aTt>aAt	p.I368N	ITGB5_ENST00000488466.1_Intron	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	368	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		AATCAGTTGAATAATATTTTT	0.433000													10	18					0	0	0.008291	0	0
USH1C	10083	broad.mit.edu	37	11	17518312	17518312	+	Missense_Mutation	SNP	C	C	T	rs138123405	byFrequency	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:17518312C>T	ENST00000005226.7	-	25	2538	c.2539G>A	c.(2539-2541)Gat>Aat	p.D847N	USH1C_ENST00000527720.1_Missense_Mutation_p.D516N|USH1C_ENST00000318024.4_Missense_Mutation_p.D547N|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527020.1_Missense_Mutation_p.D528N	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	547					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TACAGCTCATCGTCATACTCC	0.572000													18	16					0	0	0.007413	0	0
TP63	8626	broad.mit.edu	37	3	189526085	189526085	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:189526085C>T	ENST00000264731.3	+	4	438	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	TP63_ENST00000392463.2_Silent_p.L23L|TP63_ENST00000320472.5_Silent_p.L117L|TP63_ENST00000392460.3_Silent_p.L117L|TP63_ENST00000354600.5_Silent_p.L23L|TP63_ENST00000418709.2_Silent_p.L117L|TP63_ENST00000449992.1_Intron|TP63_ENST00000440651.2_Silent_p.L117L|TP63_ENST00000437221.1_Silent_p.L23L|TP63_ENST00000382063.4_Intron|TP63_ENST00000456148.1_Silent_p.L23L|TP63_ENST00000392461.3_Silent_p.L23L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	117					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)		CCTGGGGCTCCTGAACAGCAT	0.577000										HNSCC(45;0.13)			16	27					0	0	0.006122	0	0
ZNF816	125893	broad.mit.edu	37	19	53432252	53432252	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:53432252G>A	ENST00000549216.1	-	2	469	c.399C>T	c.(397-399)acC>acT	p.T133T	ZNF321P_ENST00000391777.3_Silent_p.T202T|ZNF816-ZNF321P_ENST00000313956.4_RNA|ZNF816_ENST00000434371.2_Silent_p.T202T	NM_001202473.1	NP_001189402.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TAGAAATACGGGTTTTGGGAC	0.343000													27	26					0	0	0.008361	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42143938	42143938	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:42143938C>T	ENST00000444063.1	+	3	522	c.390C>T	c.(388-390)gtC>gtT	p.V130V	L3MBTL1_ENST00000373135.3_Silent_p.V130V|L3MBTL1_ENST00000457824.1_Intron|L3MBTL1_ENST00000418998.1_Silent_p.V198V|L3MBTL1_ENST00000427442.2_Silent_p.V198V|L3MBTL1_ENST00000373134.1_Silent_p.V130V			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	130					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TCAGGTCAGTCATAGTGGAGA	0.582000													6	7					0	0	0.001168	0	0
DRD3	1814	broad.mit.edu	37	3	113878691	113878691	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:113878691G>A	ENST00000383673.2	-	3	724	c.294C>T	c.(292-294)ttC>ttT	p.F98F	DRD3_ENST00000460779.1_Silent_p.F98F|DRD3_ENST00000295881.7_Silent_p.F98F|DRD3_ENST00000467632.1_Silent_p.F98F	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	98					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AAATGCGGCTGAAATTCCAGA	0.483000													28	36					0	0	0.008361	0	0
ZNF438	220929	broad.mit.edu	37	10	31137977	31137977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:31137977G>A	ENST00000538351.1	-	7	1964	c.1210C>T	c.(1210-1212)Cca>Tca	p.P404S	ZNF438_ENST00000442986.1_Missense_Mutation_p.P453S|ZNF438_ENST00000444692.2_Missense_Mutation_p.P443S|ZNF438_ENST00000436087.2_Missense_Mutation_p.P453S|ZNF438_ENST00000375311.1_Missense_Mutation_p.P17S|ZNF438_ENST00000331737.6_Missense_Mutation_p.P443S|ZNF438_ENST00000361310.3_Missense_Mutation_p.P453S|ZNF438_ENST00000452305.1_Missense_Mutation_p.P443S|ZNF438_ENST00000413025.1_Missense_Mutation_p.P453S	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				AGTGTAGTTGGAGAAGCCAGG	0.458000													20	35					0	0	0.008871	0	0
RNF6	6049	broad.mit.edu	37	13	26788621	26788621	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:26788621C>T	ENST00000381588.4	-	5	2150	c.1398G>A	c.(1396-1398)agG>agA	p.R466R	RNF6_ENST00000346166.3_Silent_p.R466R|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Silent_p.R466R|RNF6_ENST00000399762.2_Silent_p.R110R	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	466					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TCTCAGAAATCCTACGAAGAG	0.448000													47	37					0	0	0.013114	0	0
SSFA2	6744	broad.mit.edu	37	2	182766878	182766878	+	Silent	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:182766878T>C	ENST00000431877.2	+	8	1277	c.1098T>C	c.(1096-1098)agT>agC	p.S366S	SSFA2_ENST00000409001.1_Silent_p.S366S|SSFA2_ENST00000320370.7_Silent_p.S366S|SSFA2_ENST00000428267.2_Silent_p.S213S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	366						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCTCTGGTAGTTCAGCAGCTG	0.333000													18	21					0	0	0.007413	0	0
TRIM63	84676	broad.mit.edu	37	1	26385114	26385114	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:26385114C>T	ENST00000374272.3	-	5	736	c.597_splice	c.e5-1	p.E200_splice		NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	200	Interaction with TTN.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding	p.E200K(1)		kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGACTGTTCTCCTGAGGACGG	0.493000													46	47					0	0	0.013114	0	0
LPIN1	23175	broad.mit.edu	37	2	11924042	11924042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:11924042C>T	ENST00000256720.2	+	8	1337	c.1244C>T	c.(1243-1245)cCc>cTc	p.P415L	LPIN1_ENST00000425416.2_Missense_Mutation_p.P421L|LPIN1_ENST00000449576.2_Missense_Mutation_p.P500L|LPIN1_ENST00000396098.1_Missense_Mutation_p.P457L|LPIN1_ENST00000396099.1_Missense_Mutation_p.P457L|LPIN1_ENST00000396097.1_Missense_Mutation_p.P145L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	415					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CTGTATTTTCCCAAAAAGTAA	0.418000													40	65					0	0	0.005524	0	0
QRICH2	84074	broad.mit.edu	37	17	74287678	74287678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:74287678G>A	ENST00000262765.5	-	4	2811	c.2632C>T	c.(2632-2634)Cca>Tca	p.P878S		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	878							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TAAGTTTCTGGTGGTACCAAA	0.502000													38	44					0	0	0.004878	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55360292	55360292	+	Silent	SNP	G	G	A	rs147515881		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:55360292G>A	ENST00000398661.2	-	8	941	c.810C>T	c.(808-810)atC>atT	p.I270I	HMGCLL1_ENST00000308161.4_Silent_p.I208I|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000370850.2_Silent_p.I137I|HMGCLL1_ENST00000274901.4_Silent_p.I240I	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	270							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.I270I(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CACCTGGTGGGATTTCTTTCA	0.433000													38	34					0	0	0.004878	0	0
TBC1D24	57465	broad.mit.edu	37	16	2546526	2546526	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:2546526C>T	ENST00000567020.1	+	2	517	c.377C>T	c.(376-378)cCc>cTc	p.P126L	RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.P126L|TBC1D24_ENST00000434757.2_Missense_Mutation_p.P126L|TBC1D24_ENST00000293970.5_Missense_Mutation_p.P126L	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	126	Rab-GAP TBC.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						AACCAGTTCCCCGACATCTCC	0.672000													17	32					0	0	0.008871	0	0
KRT85	3891	broad.mit.edu	37	12	52754687	52754687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:52754687G>A	ENST00000257901.3	-	9	1549	c.1474C>T	c.(1474-1476)Cgt>Tgt	p.R492C	KRT85_ENST00000544265.1_Missense_Mutation_p.R280C	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	492	Tail.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGGAGGAACGAGGCTGGCAG	0.652000													25	38					0	0	0.003954	0	0
KIF14	9928	broad.mit.edu	37	1	200523698	200523698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:200523698C>T	ENST00000367350.4	-	29	4903	c.4465G>A	c.(4465-4467)Gaa>Aaa	p.E1489K		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1489	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCTTGGTATTCAAAGTTTTCT	0.303000													12	43					0	0	0.001855	0	0
ZNF101	94039	broad.mit.edu	37	19	19788776	19788776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:19788776C>T	ENST00000592502.1	+	2	217	c.107C>T	c.(106-108)aCc>aTc	p.T36I	ZNF101_ENST00000415784.2_5'UTR|ZNF101_ENST00000444249.2_Missense_Mutation_p.T36I			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						ACGCTGGAAACCTTCAGGAAC	0.498000													18	31					0	0	0.006122	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532747	84532747	+	RNA	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:84532747C>T	ENST00000527857.1	+	0	2769					NR_026851.1																						CATATTAAAACTTTCCGTATG	0.438000													8	13					0	0	0.003080	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718421	103718421	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:103718421C>T	ENST00000245312.3	-	1	775	c.179G>A	c.(178-180)gGg>gAg	p.G60E		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	60					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTTTATGTGCCCTAGAAATTT	0.498000													50	47					0	0	0.014410	0	0
USH1C	10083	broad.mit.edu	37	11	17537820	17537820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:17537820G>A	ENST00000005226.7	-	15	1227	c.1228C>T	c.(1228-1230)Cgt>Tgt	p.R410C	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCATCGTAACGATAAAACCAT	0.493000													13	12					0	0	0.013537	0	0
TTC38	55020	broad.mit.edu	37	22	46671153	46671153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr22:46671153C>T	ENST00000381031.3	+	5	450	c.374C>T	c.(373-375)cCg>cTg	p.P125L	TTC38_ENST00000445282.2_Intron	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	125							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						AGGAACTTTCCGAAAGCCTGT	0.478000													14	18					0	0	0.001855	0	0
FAT3	120114	broad.mit.edu	37	11	92523263	92523263	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:92523263T>G	ENST00000298047.6	+	7	4507	c.4490T>G	c.(4489-4491)gTt>gGt	p.V1497G	FAT3_ENST00000409404.2_Missense_Mutation_p.V1497G|FAT3_ENST00000525166.1_Missense_Mutation_p.V1347G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1497	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCTACACTGTTCATAGCAGC	0.507000										TCGA Ovarian(4;0.039)			162	164					0	0	0.014410	0	0
OR6N1	128372	broad.mit.edu	37	1	158736335	158736335	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:158736335G>T	ENST00000335094.2	-	1	157	c.138C>A	c.(136-138)ttC>ttA	p.F46L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AGACCACCAGGAATATCAGCA	0.507000													80	33					1.32764e-51	1.52122e-51	0.014410	1	0
FOXO4	4303	broad.mit.edu	37	X	70321291	70321291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:70321291C>T	ENST00000374259.3	+	2	1543	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F	FOXO4_ENST00000341558.3_Missense_Mutation_p.S349F	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	404					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					GGGCTTCCTTCCTCCAGTAAG	0.617000													14	1					0	0	0.002450	0	0
QDPR	5860	broad.mit.edu	37	4	17506007	17506007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:17506007G>A	ENST00000281243.5	-	3	469	c.290C>T	c.(289-291)tCc>tTc	p.S97F	QDPR_ENST00000428702.2_Missense_Mutation_p.S66F|QDPR_ENST00000508623.1_Missense_Mutation_p.S97F|QDPR_ENST00000513615.1_Missense_Mutation_p.S97F	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	97					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	CTCACACTTGGATTTGGCATT	0.502000													24	2					0	0	0.004656	0	0
UTP18	51096	broad.mit.edu	37	17	49374332	49374332	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:49374332C>T	ENST00000225298.7	+	13	1710	c.1653C>T	c.(1651-1653)caC>caT	p.H551H		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	551				GKALMYRLHHYSDF -> ARP (in Ref. 1; AAD34043).	rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CCAGGTTGCACCATTACTCAG	0.353000													17	21					0	0	0.008871	0	0
RABEPK	10244	broad.mit.edu	37	9	127996026	127996026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:127996026C>T	ENST00000373538.3	+	8	1196	c.886C>T	c.(886-888)Cat>Tat	p.H296Y	RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Missense_Mutation_p.H296Y|RABEPK_ENST00000259460.8_Missense_Mutation_p.H245Y	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	296					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						ACGATTGGACCATTCCATGTG	0.448000													38	69					0	0	0.007835	0	0
UGT1A4	54657	broad.mit.edu	37	2	234628081	234628081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:234628081G>A	ENST00000373409.3	+	1	658	c.615G>A	c.(613-615)atG>atA	p.M205I	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		CAGACCACATGACATTCCTGC	0.448000													34	54					0	0	0.013726	0	0
MYLK	4638	broad.mit.edu	37	3	123419471	123419471	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:123419471G>A	ENST00000360772.3	-	19	3222	c.2844C>T	c.(2842-2844)ccC>ccT	p.P948P	MYLK_ENST00000359169.1_Silent_p.P948P|MYLK_ENST00000360304.3_Silent_p.P948P|MYLK_ENST00000346322.5_Silent_p.P879P|MYLK_ENST00000475616.1_Silent_p.P948P			Q15746	MYLK_HUMAN	myosin light chain kinase	948	5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).|Calmodulin-binding (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGACCTGCTGGGGGCTGTGCA	0.587000													21	15					0	0	0.012319	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477438	110477438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:110477438G>A	ENST00000378402.5	+	49	8481	c.8377G>A	c.(8377-8379)Gaa>Aaa	p.E2793K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2793					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTGGGAACATGAAATGGTAAT	0.388000										HNSCC(38;0.096)			23	24					0	0	0.005443	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33052919	33052919	+	Missense_Mutation	SNP	T	T	G	rs61736938		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:33052919T>G	ENST00000418931.2	+	3	673	c.557T>G	c.(556-558)gTg>gGg	p.V186G		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	186	Beta-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|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CAGATCCTGGTGATGCTGGAA	0.557000													21	89					0	0	0.014323	0	0
SNAPC2	6618	broad.mit.edu	37	19	7987027	7987027	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:7987027G>A	ENST00000221573.6	+	4	531	c.480G>A	c.(478-480)caG>caA	p.Q160Q	SNAPC2_ENST00000597584.1_5'UTR|SNAPC2_ENST00000595035.1_3'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	160					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CTGGAGGACAGGAAGACCCCG	0.662000													32	32					0	0	0.012213	0	0
FLNC	2318	broad.mit.edu	37	7	128487761	128487761	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:128487761C>T	ENST00000325888.8	+	25	4560	c.4299C>T	c.(4297-4299)ttC>ttT	p.F1433F	FLNC_ENST00000346177.6_Silent_p.F1433F	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1433					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						GGAGCCCGTTCCGCGTGCCAG	0.657000													21	24					0	0	0.012319	0	0
RYR1	6261	broad.mit.edu	37	19	39023334	39023334	+	Silent	SNP	G	G	A	rs148659292	byFrequency	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:39023334G>A	ENST00000355481.4	+	77	11333	c.11202G>A	c.(11200-11202)ggG>ggA	p.G3734G	RYR1_ENST00000360985.3_Silent_p.G3739G|RYR1_ENST00000359596.3_Silent_p.G3739G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3739					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)	AGGAGGGAGGGGAGAACGGTG	0.602000													16	20					0	0	0.012319	0	0
ANKHD1	54882	broad.mit.edu	37	5	139917070	139917070	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:139917070G>A	ENST00000297183.6	+	31	7248	c.7124G>A	c.(7123-7125)cGa>cAa	p.R2375Q	ANKHD1_ENST00000544120.1_Missense_Mutation_p.R699Q|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R2375Q|ANKHD1_ENST00000360839.2_Missense_Mutation_p.R2375Q	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACTGGCCCGAATTCGGCAA	0.557000													24	27					0	0	0.003330	0	0
ACAD11	84129	broad.mit.edu	37	3	132294746	132294746	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:132294746G>A	ENST00000264990.6	-	17	2842	c.1871C>T	c.(1870-1872)tCc>tTc	p.S624F	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Missense_Mutation_p.S149F	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GCGGCCTTGGGAAATTTCAAA	0.483000													26	37					0	0	0.007291	0	0
ATP10B	23120	broad.mit.edu	37	5	160039922	160039922	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:160039922C>T	ENST00000327245.5	-	18	3510	c.2664G>A	c.(2662-2664)ggG>ggA	p.G888G		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	888					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCTTCGATCCCAGTGGCTC	0.507000													6	8					0	0	0.001168	0	0
SEPT9	10801	broad.mit.edu	37	17	75398634	75398634	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:75398634C>T	ENST00000329047.8	+	2	1328	c.516C>T	c.(514-516)atC>atT	p.I172I	SEPT9_ENST00000427177.1_Silent_p.I190I|SEPT9_ENST00000431235.2_Silent_p.I26I|SEPT9_ENST00000423034.2_Silent_p.I183I|SEPT9_ENST00000588690.1_Silent_p.I26I|SEPT9_ENST00000591198.1_Silent_p.I171I|SEPT9_ENST00000449803.2_Silent_p.I26I|SEPT9_ENST00000427674.2_Silent_p.I26I|SEPT9_ENST00000590294.1_Silent_p.I172I|SEPT9_ENST00000592420.1_5'UTR	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	190					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GGGTGGAGATCCAGATGCCCA	0.692000													7	4					0	0	0.001984	0	0
EMC7	56851	broad.mit.edu	37	15	34393911	34393911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:34393911G>A	ENST00000256545.4	-	1	238	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7																		ATCTTGAAGCGATCTCCTATG	0.637000													49	48					0	0	0.014410	0	0
ATP13A5	344905	broad.mit.edu	37	3	193023422	193023422	+	Silent	SNP	T	T	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:193023422T>A	ENST00000342358.4	-	23	2721	c.2604A>T	c.(2602-2604)tcA>tcT	p.S868S	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	868					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)		CTTCCTGCTCTGATAATGAAA	0.453000													44	51					0	0	0.014410	0	0
SLC17A3	10786	broad.mit.edu	37	6	25849613	25849613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:25849613G>A	ENST00000397060.4	-	11	1460	c.1351C>T	c.(1351-1353)Ctt>Ttt	p.L451F	SLC17A3_ENST00000361703.6_Missense_Mutation_p.L373F|SLC17A3_ENST00000360657.3_Missense_Mutation_p.L373F	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	373					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TGACTAAGAAGAAATCCACTG	0.398000													7	22					0	0	0.004482	0	0
C8orf58	541565	broad.mit.edu	37	8	22459810	22459810	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:22459810C>T	ENST00000409586.3	+	5	984	c.864C>T	c.(862-864)tcC>tcT	p.S288S	C8orf58_ENST00000289989.5_Silent_p.S288S	NM_001013842.2|NM_001198827.1|NM_173686.2	NP_001013864.1|NP_001185756.1|NP_775957.2	Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	288										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		ACTTGCCATCCTCCCAGGGAC	0.652000													7	10					0	0	0.006214	0	0
NUGGC	389643	broad.mit.edu	37	8	27917983	27917983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:27917983C>T	ENST00000413272.2	-	8	1199	c.1057G>A	c.(1057-1059)Gtc>Atc	p.V353I	NUGGC_ENST00000341513.6_Missense_Mutation_p.V353I	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		ATCTTGGTGACCACCAGGGCC	0.567000											OREG0018675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	13					0	0	0.004482	0	0
TRPC7	57113	broad.mit.edu	37	5	135587556	135587556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:135587556C>T	ENST00000513104.1	-	6	1642	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	TRPC7_ENST00000426057.2_Missense_Mutation_p.E338K|TRPC7_ENST00000355180.3_Missense_Mutation_p.E393K	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	454					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)			TCCTTGCATTCGGACCAAATC	0.537000													12	19					0	0	0.010729	0	0
DNAH7	56171	broad.mit.edu	37	2	196636525	196636525	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:196636525G>A	ENST00000312428.6	-	61	11392	c.11292C>T	c.(11290-11292)ttC>ttT	p.F3764F	DNAH7_ENST00000409063.1_Silent_p.F247F	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3764					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.F3764F(2)		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						CCTCGATGTCGAAGTTGTTTG	0.448000													64	65					0	0	0.014410	0	0
CPNE5	57699	broad.mit.edu	37	6	36710090	36710090	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:36710090G>A	ENST00000244751.2	-	21	2361	c.1737C>T	c.(1735-1737)tcC>tcT	p.S579S	CPNE5_ENST00000393189.2_Silent_p.S287S|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	579										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGCGGGCTGGGGACTGCGAGG	0.677000													33	70					0	0	0.005524	0	0
SCN5A	6331	broad.mit.edu	37	3	38608041	38608041	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:38608041C>T	ENST00000413689.1	-	21	3892	c.3699G>A	c.(3697-3699)aaG>aaA	p.K1233K	SCN5A_ENST00000455624.2_Silent_p.K1232K|SCN5A_ENST00000451551.2_Silent_p.K1179K|SCN5A_ENST00000450102.2_Silent_p.K1179K|SCN5A_ENST00000449557.2_Silent_p.K1179K|SCN5A_ENST00000443581.1_Silent_p.K1232K|SCN5A_ENST00000425664.1_Silent_p.K1233K|SCN5A_ENST00000423572.2_Silent_p.K1232K|SCN5A_ENST00000414099.2_Silent_p.K1233K|SCN5A_ENST00000333535.4_Silent_p.K1233K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1233					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCTTGATGGTCTTCCGCTCCT	0.542000													18	22					0	0	0.008871	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656647	40656647	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:40656647A>C	ENST00000406785.1	-	2	963	c.774T>G	c.(772-774)ttT>ttG	p.F258L	SLC8A1_ENST00000542756.1_Missense_Mutation_p.F258L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.F258L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.F258L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.F258L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.F258L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.F258L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.F258L|SLC8A1_ENST00000403092.1_Missense_Mutation_p.F258L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.F258L			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	258	Calmodulin-binding (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATACTTGTAAAACAGAAGTC	0.448000													42	41					0	0	0.007835	0	0
OR4C13	283092	broad.mit.edu	37	11	49974726	49974726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:49974726C>T	ENST00000555099.1	+	1	784	c.752C>T	c.(751-753)cCc>cTc	p.P251L		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	251					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						TCCTTTATACCCTGCATATTT	0.423000													40	49					0	0	0.014410	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018297	161018297	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:161018297C>T	ENST00000368013.3	-	12	2834	c.2514G>A	c.(2512-2514)cgG>cgA	p.R838R	ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Silent_p.R661R	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	838	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCCCACTCTCCCGTTCCTTGC	0.562000													34	123					0	0	0.003755	0	0
VEPH1	79674	broad.mit.edu	37	3	157178091	157178091	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:157178091G>A	ENST00000362010.2	-	4	715	c.408C>T	c.(406-408)ttC>ttT	p.F136F	VEPH1_ENST00000392832.2_Silent_p.F136F|VEPH1_ENST00000392833.2_Silent_p.F136F|VEPH1_ENST00000494677.1_Silent_p.F136F|VEPH1_ENST00000537559.1_Silent_p.F136F|VEPH1_ENST00000468233.1_Silent_p.F136F|VEPH1_ENST00000543418.1_Silent_p.F136F	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	136						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTCTGTGGAGGAATTTCACTG	0.443000													23	41					0	0	0.012319	0	0
ACTC1	70	broad.mit.edu	37	15	35083353	35083353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:35083353C>T	ENST00000290378.4	-	6	1607	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	318					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCAGTGATTTCCTTCTGCATA	0.453000													92	111					0	0	0.014410	0	0
TRPM2	7226	broad.mit.edu	37	21	45861607	45861607	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr21:45861607C>T	ENST00000397928.1	+	32	4864	c.4419C>T	c.(4417-4419)atC>atT	p.I1473I	TRPM2_ENST00000300481.9_Silent_p.I1419I|TRPM2_ENST00000397932.2_Silent_p.I1523I|TRPM2_ENST00000300482.5_Silent_p.I1473I|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1473	Nudix hydrolase.					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						GGGCCTCCATCCGATGGCAGG	0.652000													16	18					0	0	0.006122	0	0
NINL	22981	broad.mit.edu	37	20	25459693	25459693	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:25459693G>A	ENST00000278886.6	-	16	2140	c.2067C>T	c.(2065-2067)gtC>gtT	p.V689V	NINL_ENST00000422516.1_Silent_p.V689V	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	689					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGCCCCAGATGACCTCCTGAG	0.677000													23	36					0	0	0.003330	0	0
GUCY2C	2984	broad.mit.edu	37	12	14849211	14849211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:14849211C>T	ENST00000261170.3	-	1	308	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	58					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CCCTCATTCACCGCATCTTCC	0.478000													12	11					0	0	0.013537	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209949039	209949039	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:209949039G>A	ENST00000367024.1	+	11	1527	c.1011G>A	c.(1009-1011)agG>agA	p.R337R	TRAF3IP3_ENST00000367025.3_Silent_p.R337R|TRAF3IP3_ENST00000367026.3_Silent_p.R317R|TRAF3IP3_ENST00000010338.4_Silent_p.R317R|TRAF3IP3_ENST00000477431.1_Silent_p.R73R|TRAF3IP3_ENST00000400959.3_Silent_p.R317R|TRAF3IP3_ENST00000367023.1_Silent_p.R73R			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	337						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CCCAGCACAGGGAGCTGGAGA	0.612000													18	44					0	0	0.008871	0	0
ABCA13	154664	broad.mit.edu	37	7	48506563	48506563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:48506563G>A	ENST00000435803.1	+	44	12850	c.12826G>A	c.(12826-12828)Gac>Aac	p.D4276N	ABCA13_ENST00000544596.1_Intron	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4276					transport	integral to membrane	ATP binding|ATPase activity	p.D4221N(1)|p.D4276N(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGTGGGGGCGACAACTTGGA	0.498000													22	39					0	0	0.003954	0	0
FNDC7	163479	broad.mit.edu	37	1	109271457	109271457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:109271457G>A	ENST00000370017.3	+	8	1850	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K	FNDC7_ENST00000271311.2_Missense_Mutation_p.E526K	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	526	Fibronectin type-III 6.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TGCTGTGGCCGAAACACAGGC	0.577000													20	30					0	0	0.010504	0	0
MGAT4C	25834	broad.mit.edu	37	12	86374018	86374018	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:86374018G>A	ENST00000604798.1	-	8	1690	c.486C>T	c.(484-486)caC>caT	p.H162H	MGAT4C_ENST00000332156.1_Silent_p.H162H|MGAT4C_ENST00000552808.2_Silent_p.H162H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Silent_p.H162H|MGAT4C_ENST00000393205.2_Silent_p.H191H|MGAT4C_ENST00000548651.1_Silent_p.H162H			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	162					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.H162_H163>QN(1)|p.H162Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CAATAATATGGTGCGCAAATT	0.403000													30	29					0	0	0.006320	0	0
PPFIA1	8500	broad.mit.edu	37	11	70183477	70183477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:70183477C>T	ENST00000253925.7	+	12	1650	c.1435C>T	c.(1435-1437)Ctt>Ttt	p.L479F	PPFIA1_ENST00000389547.3_Missense_Mutation_p.L479F|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	479					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCAGAACTCTCTTTTAAGAGA	0.333000													7	6					0	0	0.004482	0	0
RNF220	55182	broad.mit.edu	37	1	45091971	45091971	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:45091971C>T	ENST00000355387.2	+	5	1257	c.807C>T	c.(805-807)tcC>tcT	p.S269S	RNF220_ENST00000443020.2_Silent_p.S30S|RNF220_ENST00000372247.2_Silent_p.S269S|RNF220_ENST00000361799.2_Silent_p.S269S			Q5VTB9	RN220_HUMAN	ring finger protein 220	269					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TCTTCCAGTCCCTCCTGTTGT	0.537000													20	31					0	0	0.014323	0	0
EPS8L3	79574	broad.mit.edu	37	1	110304162	110304162	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:110304162G>A	ENST00000369805.3	-	3	280	c.51C>T	c.(49-51)tcC>tcT	p.S17S	EPS8L3_ENST00000361852.4_Silent_p.S17S|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Silent_p.S17S	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	17						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TGAGGTTCTGGGAGTACTCCT	0.612000													13	20					0	0	0.002450	0	0
NOMO1	23420	broad.mit.edu	37	16	14972621	14972621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:14972621C>T	ENST00000287667.7	+	23	2858	c.2687C>T	c.(2686-2688)tCc>tTc	p.S896F		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	896						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GTCCTCTTATCCCTGAGCGGT	0.498000													37	171					0	0	0.008740	0	0
DCDC1	341019	broad.mit.edu	37	11	31312346	31312346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:31312346G>A	ENST00000597505.1	-	5	807	c.808C>T	c.(808-810)Cct>Tct	p.P270S	DCDC1_ENST00000452803.1_Missense_Mutation_p.P270S			P59894	DCDC1_HUMAN	doublecortin domain containing 1	270					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATATCAGTAGGAAGCATCAAC	0.338000													16	22					0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179448448	179448448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:179448448C>T	ENST00000589042.1	-	312	65685	c.65461G>A	c.(65461-65463)Gct>Act	p.A21821T	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A20180T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A12756T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A12948T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A12881T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A19253T|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20180	Fibronectin type-III 58.						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)			AGGCCAGTAGCTGTGTACTCT	0.448000													8	7					0	0	0.003080	0	0
DNAH11	8701	broad.mit.edu	37	7	21778324	21778324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:21778324C>T	ENST00000328843.6	+	48	7703	c.7672C>T	c.(7672-7674)Ctt>Ttt	p.L2558F	DNAH11_ENST00000409508.3_Missense_Mutation_p.L2551F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2558	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTCAGAAATTCTTGAGAAACC	0.333000									Kartagener syndrome				2	0					0	0	0.004672	0	0
SPR	6697	broad.mit.edu	37	2	73118625	73118625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:73118625G>A	ENST00000234454.5	+	3	818	c.745G>A	c.(745-747)Gag>Aag	p.E249K	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	249					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			lung(4)|ovary(2)	6						GGAAAAGGACGAGTTCAAGTC	0.517000													25	40					0	0	0.004656	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758666	121758666	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:121758666G>A	ENST00000261367.7	+	6	1803	c.375G>A	c.(373-375)cgG>cgA	p.R125R	SNCAIP_ENST00000379533.2_Silent_p.R125R|SNCAIP_ENST00000261368.8_Silent_p.R78R|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000503116.2_Silent_p.R125R|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Silent_p.R78R			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	78					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAGTGAAGCGGGTTTCGCCAC	0.478000													21	17					0	0	0.012319	0	0
PHF2	5253	broad.mit.edu	37	9	96435917	96435917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:96435917C>T	ENST00000359246.4	+	18	2766	c.2399C>T	c.(2398-2400)tCc>tTc	p.S800F	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	800					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GGAATGCTGTCCATGGCCAAC	0.667000													21	21					0	0	0.010504	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62820847	62820847	+	RNA	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:62820847G>A	ENST00000582986.1	-	0	188					NR_024386.1																						GGATGTGCTTGGTGTGCAGGC	0.582000													9	12					0	0	0.004482	0	0
AFP	174	broad.mit.edu	37	4	74318310	74318310	+	Nonsense_Mutation	SNP	C	C	T	rs144607501		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:74318310C>T	ENST00000395792.2	+	12	1721	c.1621C>T	c.(1621-1623)Cag>Tag	p.Q541*	AFP_ENST00000226359.2_Nonsense_Mutation_p.Q541*	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	541	Albumin 3.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTGCCAAGCTCAGGGTGTAGC	0.458000									Alpha-Fetoprotein, Hereditary Persistence of				11	12					0	0	0.013537	0	0
OR2B11	127623	broad.mit.edu	37	1	247614628	247614628	+	Silent	SNP	A	A	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:247614628A>G	ENST00000318749.6	-	1	680	c.657T>C	c.(655-657)ctT>ctC	p.L219L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	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;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CATAGGAGAGAAGGATGAGAG	0.577000													46	27					0	0	0.014410	0	0
SVEP1	79987	broad.mit.edu	37	9	113221378	113221378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:113221378C>T	ENST00000401783.2	-	19	3674	c.3338G>A	c.(3337-3339)gGa>gAa	p.G1113E	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.G1113E|SVEP1_ENST00000374469.1_Missense_Mutation_p.G1090E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1113					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CGAGAATTTTCCTTCTGGACA	0.423000													28	42					0	0	0.009535	0	0
FAM124A	220108	broad.mit.edu	37	13	51826083	51826083	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:51826083C>T	ENST00000322475.8	+	3	715	c.580C>T	c.(580-582)Ctc>Ttc	p.L194F	FAM124A_ENST00000280057.6_Missense_Mutation_p.L230F	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	194										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCAGCTGATTCTCCGGAGGAG	0.552000													25	24					0	0	0.005443	0	0
MMD2	221938	broad.mit.edu	37	7	4947073	4947073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:4947073C>T	ENST00000404774.3	-	7	961	c.767G>A	c.(766-768)aGg>aAg	p.R256K	MMD2_ENST00000401401.3_Missense_Mutation_p.R232K|MMD2_ENST00000406755.1_3'UTR	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	256						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		ATAGAGGTACCTCCAGATGGC	0.532000													28	38					0	0	0.007291	0	0
SLC10A5	347051	broad.mit.edu	37	8	82605900	82605900	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:82605900G>A	ENST00000518568.1	-	1	2509	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	436						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GTTAGATTAGGAAATTTCTTT	0.338000													6	13					0	0	0.001168	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302735	145302735	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:145302735C>T	ENST00000342960.5	+	8	1208	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	NBPF10_ENST00000369338.1_Silent_p.S120S|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Silent_p.S120S	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	391										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGATGCCTCCCGCTCATTGA	0.557000													5	169					0	0	0.008291	0	0
KRAS	3845	broad.mit.edu	37	12	25380274	25380274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:25380274C>T	ENST00000311936.3	-	3	375	c.184G>A	c.(184-186)Gag>Aag	p.E62K	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.E62K	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	62					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding		UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTGTACTCCTCTTGACCTGCT	0.423000		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			11	12					0	0	0.010729	0	0
PRKCB	5579	broad.mit.edu	37	16	24166007	24166007	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:24166007C>T	ENST00000303531.7	+	10	1220	c.1068C>T	c.(1066-1068)gtC>gtT	p.V356V	PRKCB_ENST00000321728.7_Silent_p.V356V	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	356	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTTCCCAGGTCATGCTTTCAG	0.488000													10	16					0	0	0.010729	0	0
MAP1B	4131	broad.mit.edu	37	5	71492061	71492061	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:71492061A>G	ENST00000296755.7	+	5	3177	c.2879A>G	c.(2878-2880)gAa>gGa	p.E960G		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	960						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GATGGGGAGGAACACGTATGT	0.537000													18	24					0	0	0.006122	0	0
HEPH	9843	broad.mit.edu	37	X	65486289	65486289	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:65486289C>T	ENST00000519389.1	+	21	3593	c.3414C>T	c.(3412-3414)ccC>ccT	p.P1138P	HEPH_ENST00000343002.2_Silent_p.P1084P|HEPH_ENST00000441993.2_Silent_p.P1086P|HEPH_ENST00000419594.1_Silent_p.P895P|HEPH_ENST00000336279.5_Silent_p.P817P|HEPH_ENST00000374727.3_Silent_p.P1087P			Q9BQS7	HEPH_HUMAN	hephaestin	1084					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAGCAGTGCCCCCCAGAGACA	0.433000													14	1					0	0	0.001855	0	0
SMYD3	64754	broad.mit.edu	37	1	246093226	246093226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:246093226G>A	ENST00000490107.1	-	6	584	c.368C>T	c.(367-369)tCt>tTt	p.S123F	SMYD3_ENST00000541742.1_Missense_Mutation_p.S123F|SMYD3_ENST00000388985.4_Missense_Mutation_p.S182F|SMYD3_ENST00000366517.1_5'UTR	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	182						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GATGGTGAAAGAGTTGCAGAT	0.413000													51	21					0	0	0.014410	0	0
ANO4	121601	broad.mit.edu	37	12	101505387	101505387	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:101505387C>T	ENST00000392979.3	+	23	2605	c.2244C>T	c.(2242-2244)atC>atT	p.I748I	ANO4_ENST00000392977.3_Silent_p.I783I|ANO4_ENST00000550015.1_Silent_p.I303I|ANO4_ENST00000299222.9_Silent_p.I303I	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	783						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						TCTCTGTTATCACAAATGCAT	0.388000										HNSCC(74;0.22)			16	25					0	0	0.006122	0	0
MYH4	4622	broad.mit.edu	37	17	10348361	10348361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:10348361G>A	ENST00000255381.2	-	37	5508	c.5398C>T	c.(5398-5400)Cgt>Tgt	p.R1800C	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1800					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						TCATCCAGACGGAGCTGCAGA	0.562000													47	59					0	0	0.014410	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420507	55420507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:55420507G>A	ENST00000242994.3	+	2	662	c.284G>A	c.(283-285)aGa>aAa	p.R95K		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	95					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R95K(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GCTAATGCCAGAGAACGGACC	0.498000													22	20					0	0	0.012319	0	0
MGAM	8972	broad.mit.edu	37	7	141765518	141765518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:141765518G>A	ENST00000475668.2	+	40	4711	c.4657G>A	c.(4657-4659)Gga>Aga	p.G1553R	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1553	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTTTCAGACGGGAGCAGATAT	0.488000													16	25					0	0	0.004007	0	0
SLC6A11	6538	broad.mit.edu	37	3	10967706	10967706	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:10967706T>A	ENST00000254488.2	+	9	1203	c.1137T>A	c.(1135-1137)ttT>ttA	p.F379L		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	379					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.F379F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GCCTGGCCTTTATTGCGTACC	0.557000													102	119					0	0	0.014410	0	0
METTL6	131965	broad.mit.edu	37	3	15467907	15467907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:15467907C>T	ENST00000443029.1	-	2	352	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	METTL6_ENST00000383789.5_Missense_Mutation_p.E38K|METTL6_ENST00000383790.3_Missense_Mutation_p.E38K|METTL6_ENST00000450816.2_Missense_Mutation_p.E38K			Q8TCB7	METL6_HUMAN	methyltransferase like 6	38							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						GCCTCTTGTTCCAATTTCTGC	0.408000													29	36					0	0	0.005443	0	0
WIPI2	26100	broad.mit.edu	37	7	5269352	5269352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:5269352C>T	ENST00000288828.4	+	12	1467	c.1235C>T	c.(1234-1236)tCa>tTa	p.S412L	WIPI2_ENST00000484262.1_Intron|WIPI2_ENST00000404704.3_Intron|WIPI2_ENST00000382384.2_Intron|WIPI2_ENST00000401525.3_Missense_Mutation_p.S394L	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	412					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TACGTGCCTTCATCCCCAACG	0.572000													11	13					0	0	0.008291	0	0
NEBL	10529	broad.mit.edu	37	10	21102879	21102879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:21102879G>A	ENST00000377122.4	-	23	2731	c.2335C>T	c.(2335-2337)Cat>Tat	p.H779Y	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	779					regulation of actin filament length		actin binding|structural constituent of muscle	p.H779Y(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATTGAAATATGATTTTGTGCT	0.388000													21	24					0	0	0.002780	0	0
CFHR3	10878	broad.mit.edu	37	1	196762501	196762501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:196762501G>A	ENST00000367425.4	+	6	943	c.851G>A	c.(850-852)gGa>gAa	p.G284E	CFHR3_ENST00000391985.3_Missense_Mutation_p.G223E	NM_021023.5	NP_066303.2			complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						AAGTTAAAAGGAAGAAGTGAC	0.259000													14	59					0	0	0.002450	0	0
CBR3	874	broad.mit.edu	37	21	37518652	37518652	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr21:37518652T>G	ENST00000290354.5	+	3	957	c.676T>G	c.(676-678)Tgc>Ggc	p.C226G	CBR3-AS1_ENST00000427491.1_RNA|CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	226						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding			kidney(1)|large_intestine(1)|lung(1)	3						GGTGAATGCGTGCTGCCCAGG	0.572000													32	43					0	0	0.012213	0	0
PLCE1	51196	broad.mit.edu	37	10	96028785	96028785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:96028785C>T	ENST00000260766.3	+	17	5015	c.4381C>T	c.(4381-4383)Ccc>Tcc	p.P1461S	PLCE1_ENST00000371375.1_Missense_Mutation_p.P1153S|PLCE1_ENST00000371380.2_Missense_Mutation_p.P1461S|PLCE1_ENST00000371385.3_Missense_Mutation_p.P1153S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1461	PI-PLC X-box.				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			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AACCAAGATCCCCTTCAAGGT	0.383000													17	29					0	0	0.006122	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209949040	209949040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:209949040G>T	ENST00000367024.1	+	11	1528	c.1012G>T	c.(1012-1014)Gag>Tag	p.E338*	TRAF3IP3_ENST00000367025.3_Nonsense_Mutation_p.E338*|TRAF3IP3_ENST00000367026.3_Nonsense_Mutation_p.E318*|TRAF3IP3_ENST00000010338.4_Nonsense_Mutation_p.E318*|TRAF3IP3_ENST00000477431.1_Nonsense_Mutation_p.E74*|TRAF3IP3_ENST00000400959.3_Nonsense_Mutation_p.E318*|TRAF3IP3_ENST00000367023.1_Nonsense_Mutation_p.E74*			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	338						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CCAGCACAGGGAGCTGGAGAG	0.607000													17	44					2.94398e-08	3.34304e-08	0.007413	1	0
URB2	9816	broad.mit.edu	37	1	229773405	229773405	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:229773405G>A	ENST00000258243.2	+	4	3181	c.3045G>A	c.(3043-3045)atG>atA	p.M1015I		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1015						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCATCCAAATGAAGCTGAGCT	0.438000													21	52					0	0	0.008871	0	0
ATP2B2	491	broad.mit.edu	37	3	10379942	10379942	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:10379942A>C	ENST00000397077.1	-	21	3778	c.3203T>G	c.(3202-3204)gTg>gGg	p.V1068G	ATP2B2_ENST00000360273.2_Missense_Mutation_p.V1113G|ATP2B2_ENST00000352432.4_Missense_Mutation_p.V1113G|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V1099G|ATP2B2_ENST00000383800.4_Missense_Mutation_p.V1068G			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1113					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GATCTCCTCCACGTCCTCGTT	0.632000													18	23					0	0	0.008871	0	0
SEC23A	10484	broad.mit.edu	37	14	39543713	39543713	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:39543713G>A	ENST00000537403.1	-	5	1605	c.403C>T	c.(403-405)Cga>Tga	p.R135*	SEC23A_ENST00000545328.2_Nonsense_Mutation_p.R308*|SEC23A_ENST00000307712.6_Nonsense_Mutation_p.R337*|SEC23A_ENST00000536508.1_Nonsense_Mutation_p.R211*			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	337					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GTAGCAGCTCGATTAGCCAAT	0.348000													37	49					0	0	0.004878	0	0
DNAH5	1767	broad.mit.edu	37	5	13901522	13901522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:13901522G>A	ENST00000265104.4	-	14	1995	c.1891C>T	c.(1891-1893)Cgc>Tgc	p.R631C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	631	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)					AAGAGCTGGCGGGCCCACAAA	0.498000									Kartagener syndrome				11	9					0	0	0.013537	0	0
SERTAD2	9792	broad.mit.edu	37	2	64863655	64863655	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:64863655G>A	ENST00000313349.3	-	2	648	c.351C>T	c.(349-351)ccC>ccT	p.P117P		NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	117					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						CGAGGTCGCAGGGGTGGGAGG	0.697000													12	21					0	0	0.003163	0	0
RPS3A	6189	broad.mit.edu	37	4	152025418	152025418	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:152025418T>C	ENST00000514682.1	+	5	799	c.542T>C	c.(541-543)cTg>cCg	p.L181P	RPS3A_ENST00000506126.1_Missense_Mutation_p.L181P|RPS3A_ENST00000509736.1_Missense_Mutation_p.L99P|RPS3A_ENST00000274065.4_Missense_Mutation_p.L218P|RPS3A_ENST00000512690.1_3'UTR			P61247	RS3A_HUMAN	ribosomal protein S3A	218					cell differentiation|endocrine pancreas development|induction of apoptosis|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(1)|ovary(1)|pancreas(1)	4	all_hematologic(180;0.093)					GTAAAAATGCTGAAGAAGCCC	0.418000													6	14					0	0	0.001168	0	0
OR5H15	403274	broad.mit.edu	37	3	97887590	97887590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:97887590G>A	ENST00000356526.2	+	1	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GTTCTCACAGGATTTTTATAT	0.393000													31	49					0	0	0.008740	0	0
FBN3	84467	broad.mit.edu	37	19	8151158	8151158	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:8151158A>T	ENST00000600128.1	-	55	7220	c.6806T>A	c.(6805-6807)gTc>gAc	p.V2269D	FBN3_ENST00000601739.1_Missense_Mutation_p.V2269D|FBN3_ENST00000270509.2_Missense_Mutation_p.V2269D			Q75N90	FBN3_HUMAN	fibrillin 3	2269	EGF-like 37; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGCGGTGTTGACACAGCGGCC	0.642000													44	49					0	0	0.014410	0	0
TRHDE	29953	broad.mit.edu	37	12	73012771	73012771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:73012771C>T	ENST00000261180.4	+	13	2383	c.2287C>T	c.(2287-2289)Cct>Tct	p.P763S		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	763					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						AGCTCTTTATCCTCTAGATAA	0.363000													17	16					0	0	0.010504	0	0
SRRM2	23524	broad.mit.edu	37	16	2812404	2812404	+	Silent	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:2812404T>C	ENST00000301740.8	+	11	2424	c.1875T>C	c.(1873-1875)tcT>tcC	p.S625S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	625	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGCGCAGATCTAGGACCCGAT	0.602000													23	27					0	0	0.014323	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221708	140221708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140221708G>A	ENST00000531613.1	+	1	802	c.802G>A	c.(802-804)Gat>Aat	p.D268N	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.D268N|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGCTTCTGATCCGGATGA	0.388000													14	19					0	0	0.004007	0	0
KMT2C	58508	broad.mit.edu	37	7	152012382	152012382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:152012382G>A	ENST00000355193.2	-	4	649	c.431C>T	c.(430-432)tCc>tTc	p.S144F	KMT2C_ENST00000262189.6_Missense_Mutation_p.S144F					lysine (K)-specific methyltransferase 2C																		TTGTCCTAAGGAACTTTTTTC	0.378000													18	26					0	0	0.007413	0	0
OBSCN	84033	broad.mit.edu	37	1	228528905	228528905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:228528905G>A	ENST00000570156.2	+	84	20752	c.20678G>A	c.(20677-20679)cGa>cAa	p.R6893Q	OBSCN_ENST00000422127.1_Missense_Mutation_p.R5936Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3055Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5936Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3570Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5936					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)				AAGCCCCGGCGAGACTCCCGC	0.662000													15	47					0	0	0.004007	0	0
PLA2R1	22925	broad.mit.edu	37	2	160808038	160808038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:160808038G>A	ENST00000283243.7	-	24	3559	c.3353C>T	c.(3352-3354)aCc>aTc	p.T1118I	PLA2R1_ENST00000392771.1_Missense_Mutation_p.T1118I	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1118					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATATTCTAAGGTATTGGGCAT	0.373000													24	13					0	0	0.002780	0	0
PCDHA1	56147	broad.mit.edu	37	5	140168112	140168112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140168112G>A	ENST00000504120.2	+	1	2237	c.2237G>A	c.(2236-2238)gGg>gAg	p.G746E	PCDHA1_ENST00000378133.3_Missense_Mutation_p.G746E|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGCGTTGGGGAGCTGGTCG	0.652000													14	9					0	0	0.001855	0	0
VPS39	23339	broad.mit.edu	37	15	42479529	42479529	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:42479529G>A	ENST00000318006.5	-	7	636	c.474C>T	c.(472-474)tcC>tcT	p.S158S	VPS39_ENST00000348544.4_Silent_p.S169S	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	169	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ACCACGCCATGGACTTGGGCA	0.338000													13	25					0	0	0.004007	0	0
AP5B1	91056	broad.mit.edu	37	11	65546207	65546207	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:65546207G>T	ENST00000532090.2	-	2	1967	c.1757C>A	c.(1756-1758)gCa>gAa	p.A586E		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	529							protein binding			lung(1)	1						CCTCACCCCTGCCCGCAGCAG	0.682000													6	10					0.00116845	0.00132176	0.001168	1	0
ARMC4	55130	broad.mit.edu	37	10	28151544	28151544	+	Missense_Mutation	SNP	C	C	T	rs151193419		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:28151544C>T	ENST00000305242.5	-	18	2710	c.2618G>A	c.(2617-2619)gGg>gAg	p.G873E	ARMC4_ENST00000537576.1_Missense_Mutation_p.G565E|ARMC4_ENST00000545014.1_Missense_Mutation_p.G398E	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	873							binding	p.G873A(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						AACCATTTCCCCAGCATCCTA	0.363000													7	6					0	0	0.001984	0	0
ABCA13	154664	broad.mit.edu	37	7	48545956	48545956	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:48545956A>T	ENST00000435803.1	+	49	13340	c.13316A>T	c.(13315-13317)tAt>tTt	p.Y4439F	ABCA13_ENST00000544596.1_Missense_Mutation_p.Y169F	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4439					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGCCACCCATATGGAGGGGCC	0.478000													22	20					0	0	0.014323	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756848	94756848	+	Missense_Mutation	SNP	G	G	A	rs2232697		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:94756848G>A	ENST00000554723.1	-	2	621	c.203C>T	c.(202-204)tCg>tTg	p.S68L	SERPINA10_ENST00000393096.1_Missense_Mutation_p.S28L|SERPINA10_ENST00000261994.4_Missense_Mutation_p.S28L|SERPINA10_ENST00000554173.1_Missense_Mutation_p.S28L			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	28					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.S28L(1)		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)		GGTCTCTGGCGACTGAGGACT	0.642000													7	11					0	0	0.001984	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723683	140723683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140723683C>T	ENST00000253812.6	+	1	83	c.83C>T	c.(82-84)tCc>tTc	p.S28F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.S28Y(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAACAGGATCCGGTCAGATC	0.587000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	73	101					0	0	0.014410	0	0
C9orf64	84267	broad.mit.edu	37	9	86554526	86554526	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:86554526T>C	ENST00000376344.3	-	4	1142	c.926A>G	c.(925-927)aAt>aGt	p.N309S	C9orf64_ENST00000314700.1_Missense_Mutation_p.N168S	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	309										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AAGAATGGAATTGATCTCTCC	0.413000													32	22					0	0	0.008361	0	0
B4GALNT4	338707	broad.mit.edu	37	11	373036	373036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:373036C>T	ENST00000329962.6	+	5	455	c.455C>T	c.(454-456)aCc>aTc	p.T152I		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	152						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGCGCACCACCGTGAAGAAG	0.647000													17	31					0	0	0.006122	0	0
ENO2	2026	broad.mit.edu	37	12	7026757	7026757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:7026757C>T	ENST00000535366.1	+	5	949	c.323C>T	c.(322-324)gCc>gTc	p.A108V	ENO2_ENST00000229277.1_Missense_Mutation_p.A108V|ENO2_ENST00000541477.1_Missense_Mutation_p.A108V|ENO2_ENST00000538763.1_Missense_Mutation_p.A65V|ENO2_ENST00000545045.2_Intron|ENO2_ENST00000544774.1_Missense_Mutation_p.A65V			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	108					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AAGTTTGGGGCCAATGCCATC	0.567000													19	47					0	0	0.002780	0	0
PPM1J	333926	broad.mit.edu	37	1	113253973	113253973	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:113253973A>T	ENST00000464951.1	-	7	1751	c.343T>A	c.(343-345)Ttc>Atc	p.F115I	PPM1J_ENST00000309276.6_Missense_Mutation_p.F321I|PPM1J_ENST00000359994.4_Missense_Mutation_p.F115I|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.I2N|RP11-426L16.10_ENST00000471038.2_5'UTR			Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	321										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGTGGGTGAATTCACTGCCT	0.572000													5	6					0	0	0.001168	0	0
LDB3	11155	broad.mit.edu	37	10	88478537	88478537	+	Silent	SNP	G	G	A	rs150710377	byFrequency	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:88478537G>A	ENST00000429277.2	+	12	2071	c.1926G>A	c.(1924-1926)gcG>gcA	p.A642A	LDB3_ENST00000458213.2_Silent_p.A527A|LDB3_ENST00000352360.5_Silent_p.A380A|LDB3_ENST00000263066.6_Silent_p.A527A|LDB3_ENST00000361373.4_Silent_p.A637A	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	637	LIM zinc-binding 2.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TCGTCTGTGCGGCCTGCAAGA	0.572000													45	37					0	0	0.014410	0	0
LRRC7	57554	broad.mit.edu	37	1	70504778	70504778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:70504778C>T	ENST00000310961.5	+	22	3590	c.3172C>T	c.(3172-3174)Caa>Taa	p.Q1058*	LRRC7_ENST00000035383.5_Nonsense_Mutation_p.Q1053*|LRRC7_ENST00000415775.2_Nonsense_Mutation_p.Q337*			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1053						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						ACCCCCTTTTCAACACAATCC	0.438000													13	16					0	0	0.001855	0	0
MECOM	2122	broad.mit.edu	37	3	168834174	168834174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:168834174G>A	ENST00000464456.1	-	7	2122	c.922C>T	c.(922-924)Cct>Tct	p.P308S	MECOM_ENST00000494292.1_Missense_Mutation_p.P496S|MECOM_ENST00000472280.1_Missense_Mutation_p.P309S|MECOM_ENST00000264674.3_Missense_Mutation_p.P373S|MECOM_ENST00000392736.3_Missense_Mutation_p.P308S|MECOM_ENST00000468789.1_Missense_Mutation_p.P308S|MECOM_ENST00000433243.2_Missense_Mutation_p.P309S|MECOM_ENST00000460814.1_Missense_Mutation_p.P308S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AAGCCGGAAGGAAACAGACCA	0.478000													18	26					0	0	0.007413	0	0
KCNH5	27133	broad.mit.edu	37	14	63316501	63316501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:63316501C>T	ENST00000322893.7	-	8	1707	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q	KCNH5_ENST00000394968.1_Missense_Mutation_p.R422Q|KCNH5_ENST00000420622.2_Missense_Mutation_p.R480Q	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	480					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)		CTCATGGTATCGGTTGGTGTT	0.368000													20	21					0	0	0.008871	0	0
NOS1	4842	broad.mit.edu	37	12	117660615	117660615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:117660615C>T	ENST00000317775.6	-	26	4565	c.3880G>A	c.(3880-3882)Gat>Aat	p.D1294N	NOS1_ENST00000338101.4_Missense_Mutation_p.D1328N|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1294					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TAGATATGATCTATCTTGGAT	0.557000													46	57					0	0	0.014410	0	0
USP19	10869	broad.mit.edu	37	3	49148967	49148967	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:49148967G>A	ENST00000453664.1	-	21	3465	c.3147C>T	c.(3145-3147)tcC>tcT	p.S1049S	USP19_ENST00000398898.2_Silent_p.S998S|USP19_ENST00000434032.2_Silent_p.S1059S|USP19_ENST00000398896.1_Silent_p.S766S|USP19_ENST00000398892.3_Silent_p.S998S|USP19_ENST00000398888.2_Silent_p.S958S|USP19_ENST00000417901.1_Silent_p.S1061S	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	958					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCTGGCAAGGAGCCAACCT	0.622000													17	3					0	0	0.010504	0	0
UPK3A	7380	broad.mit.edu	37	22	45683325	45683325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr22:45683325G>A	ENST00000216211.4	+	3	513	c.481G>A	c.(481-483)Gag>Aag	p.E161K	UPK3A_ENST00000396082.2_Intron	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	161					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GGCAGCCACGGAGTACAGGTG	0.602000													8	5					0	0	0.003080	0	0
KRT8	3856	broad.mit.edu	37	12	53291252	53291252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:53291252C>T	ENST00000552551.1	-	9	1844	c.1412G>A	c.(1411-1413)gGg>gAg	p.G471E	KRT8_ENST00000552150.1_Missense_Mutation_p.G499E|KRT8_ENST00000546897.1_Missense_Mutation_p.G471E|KRT8_ENST00000293308.6_Missense_Mutation_p.G471E			P05787	K2C8_HUMAN	keratin 8	471	Tail.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCAGCTTCCCATCACGTGT	0.652000													20	38					0	0	0.014323	0	0
DNAH10	196385	broad.mit.edu	37	12	124315142	124315142	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:124315142G>A	ENST00000409039.3	+	25	4112	c.4087G>A	c.(4087-4089)Gaa>Aaa	p.E1363K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1363	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)		TGAAATGACCGAAACGTTCAC	0.383000													12	19					0	0	0.001855	0	0
TRDN	10345	broad.mit.edu	37	6	123539883	123539883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:123539883G>A	ENST00000334268.4	-	40	2346	c.2029C>T	c.(2029-2031)Ccc>Tcc	p.P677S	TRDN_ENST00000398178.3_Missense_Mutation_p.P685S			Q13061	TRDN_HUMAN	triadin	685					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AAACTGATGGGACCTAAGGAA	0.473000													3	0					0	0	0.004672	0	0
OR13C9	286362	broad.mit.edu	37	9	107380040	107380040	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:107380040C>T	ENST00000259362.1	-	1	445	c.446G>A	c.(445-447)tGg>tAg	p.W149*		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CCCTGCAAACCAGGACCCAAC	0.443000													23	34					0	0	0.002780	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589140	140589140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:140589140C>T	ENST00000239450.2	+	1	850	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		221	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGTCCCCTCCCAGGTCTGG	0.507000													16	30					0	0	0.004007	0	0
ASXL3	80816	broad.mit.edu	37	18	31311969	31311969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:31311969C>T	ENST00000269197.5	+	9	917	c.917C>T	c.(916-918)gCt>gTt	p.A306V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.A13G(1)|p.A306G(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGTACTTCAGCTCTAAATAAT	0.373000													24	35					0	0	0.008361	0	0
ZMYM5	9205	broad.mit.edu	37	13	20398733	20398733	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:20398733T>C	ENST00000337963.4	-	8	2158	c.1894A>G	c.(1894-1896)Agt>Ggt	p.S632G		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	632						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		tacttaacactattgttgacg	0.299000													4	8					0	0	0.009096	0	0
OR2T5	401993	broad.mit.edu	37	1	248651955	248651955	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:248651955C>T	ENST00000366473.2	+	1	71	c.66C>T	c.(64-66)ttC>ttT	p.F22F		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGACTCTTCAGACGATCCA	0.483000													37	131					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179636110	179636110	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:179636110G>A	ENST00000589042.1	-	34	8168	c.7944C>T	c.(7942-7944)tcC>tcT	p.S2648S	TTN_ENST00000591111.1_Silent_p.S2648S|TTN_ENST00000460472.2_Silent_p.S2602S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.S2602S|TTN_ENST00000360870.5_Silent_p.S2648S|TTN_ENST00000359218.5_Silent_p.S2602S|TTN_ENST00000342992.6_Silent_p.S2648S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2384	Ig-like 15.						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)			ATTCGCCTTTGGAATCTGGGT	0.493000													33	29					0	0	0.012213	0	0
ADCY10	55811	broad.mit.edu	37	1	167871000	167871000	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:167871000C>T	ENST00000367848.1	-	5	557	c.60G>A	c.(58-60)ctG>ctA	p.L20L	ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367851.4_Silent_p.L112L			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	112					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TAATGTTTTTCAGCTGCTTTC	0.498000													36	150					0	0	0.005524	0	0
MATK	4145	broad.mit.edu	37	19	3784157	3784157	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:3784157C>T	ENST00000310132.6	-	5	725	c.327G>A	c.(325-327)gaG>gaA	p.E109E	MATK_ENST00000395040.2_Silent_p.E68E|MATK_ENST00000395045.2_Silent_p.E110E|MATK_ENST00000585778.1_Silent_p.E109E	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	109	SH3.				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)		CGGAGAGGGCCTCCCGCTCCC	0.687000													20	24					0	0	0.012319	0	0
KCNQ5	56479	broad.mit.edu	37	6	73751729	73751729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:73751729G>A	ENST00000342056.2	+	3	958	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	KCNQ5_ENST00000355194.4_Missense_Mutation_p.R187Q|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R187Q|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R187Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R187Q|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R187Q|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R187Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R187Q	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	187					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGCTGTTGTCGATATAGAGGA	0.428000													48	6					0	0	0.014410	0	0
PDE1C	5137	broad.mit.edu	37	7	31793104	31793104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:31793104G>A	ENST00000396193.1	-	19	2797	c.2204C>T	c.(2203-2205)tCa>tTa	p.S735L	PDE1C_ENST00000396191.1_Missense_Mutation_p.S675L|PDE1C_ENST00000321453.7_Missense_Mutation_p.S675L	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	675					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTTTGAGACTGAAGGTGCATA	0.453000													42	47					0	0	0.007835	0	0
SCN11A	11280	broad.mit.edu	37	3	38951638	38951638	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:38951638C>T	ENST00000302328.3	-	8	1218	c.1020G>A	c.(1018-1020)acG>acA	p.T340T	SCN11A_ENST00000444237.2_Silent_p.T340T|SCN11A_ENST00000450244.1_Silent_p.T340T|SCN11A_ENST00000456224.3_Silent_p.T340T	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	340					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T340T(1)		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)	TGTCAAAATTCGTATAATTAT	0.368000													13	17					0	0	0.013537	0	0
TPO	7173	broad.mit.edu	37	2	1497609	1497609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:1497609C>T	ENST00000345913.4	+	11	1895	c.1804C>T	c.(1804-1806)Cgc>Tgc	p.R602C	TPO_ENST00000349624.3_Missense_Mutation_p.R429C|TPO_ENST00000382201.3_Missense_Mutation_p.R545C|TPO_ENST00000346956.3_Missense_Mutation_p.R602C|TPO_ENST00000337415.3_Missense_Mutation_p.R602C|TPO_ENST00000329066.4_Missense_Mutation_p.R602C|TPO_ENST00000382198.1_Missense_Mutation_p.R429C|TPO_ENST00000497517.2_3'UTR	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	602					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGCCTGCCTCGCCTGGAGAC	0.572000													5	10					0	0	0.000602	0	0
VENTX	27287	broad.mit.edu	37	10	135053586	135053586	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:135053586C>T	ENST00000325980.9	+	3	1064	c.553C>T	c.(553-555)Cct>Tct	p.P185S		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	185					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GCTGCTGTGCCCTTGGGCACC	0.667000													14	14					0	0	0.004990	0	0
MAP3K13	9175	broad.mit.edu	37	3	185161253	185161253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:185161253C>T	ENST00000265026.3	+	4	1014	c.680C>T	c.(679-681)cCa>cTa	p.P227L	MAP3K13_ENST00000446828.1_Missense_Mutation_p.P20L|MAP3K13_ENST00000443863.1_Missense_Mutation_p.P83L|MAP3K13_ENST00000535426.1_Missense_Mutation_p.P83L|MAP3K13_ENST00000424227.1_Missense_Mutation_p.P227L	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	227	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ACTCAGGCCCCATGTTATTGT	0.378000													13	27					0	0	0.001855	0	0
KIAA0922	23240	broad.mit.edu	37	4	154514996	154514996	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:154514996C>T	ENST00000409663.3	+	19	2017	c.1965C>T	c.(1963-1965)ttC>ttT	p.F655F	KIAA0922_ENST00000409959.3_Silent_p.F656F|KIAA0922_ENST00000440693.1_Silent_p.F572F	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	655						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTGGTGAATTCCAGCTCACCG	0.398000													16	16					0	0	0.010504	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927606	43927606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:43927606G>A	ENST00000282406.4	+	8	1619	c.1509G>A	c.(1507-1509)atG>atA	p.M503I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	503						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAGAGAATATGGACACGAGTT	0.413000													154	187					0	0	0.014410	0	0
OR2K2	26248	broad.mit.edu	37	9	114090649	114090649	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:114090649C>A	ENST00000374428.1	-	1	151	c.152G>T	c.(151-153)gGg>gTg	p.G51V	OR2K2_ENST00000302681.1_Missense_Mutation_p.G22V			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	51					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						CACTTCTAACCCTGGGTACTG	0.398000													15	24					9.7654e-05	0.000110749	0.007413	1	0
ZNF585B	92285	broad.mit.edu	37	19	37677522	37677522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:37677522G>A	ENST00000532828.2	-	5	1168	c.917C>T	c.(916-918)tCc>tTc	p.S306F	ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S251F|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	306					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)			GGAAATGAAGGATTTGCCACA	0.408000													46	57					0	0	0.014410	0	0
MYH6	4624	broad.mit.edu	37	14	23855654	23855654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:23855654C>T	ENST00000405093.3	-	33	4899	c.4829G>A	c.(4828-4830)cGc>cAc	p.R1610H	MYH6_ENST00000356287.3_Missense_Mutation_p.R1610H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1610					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)		GACCTCGTTGCGGCTGCGTGT	0.607000													47	57					0	0	0.014410	0	0
LAMB3	3914	broad.mit.edu	37	1	209796404	209796404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:209796404C>T	ENST00000391911.1	-	16	2868	c.2479G>A	c.(2479-2481)Ggg>Agg	p.G827R	LAMB3_ENST00000356082.4_Missense_Mutation_p.G827R|LAMB3_ENST00000367030.3_Missense_Mutation_p.G827R	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	827	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AAGAAGGCCCCACCGGCCCTG	0.652000													34	95					0	0	0.013726	0	0
LRP1B	53353	broad.mit.edu	37	2	142567932	142567932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:142567932C>T	ENST00000389484.3	-	2	1092	c.121G>A	c.(121-123)Gat>Aat	p.D41N	LRP1B_ENST00000486364.1_5'UTR	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	41	LDL-receptor class A 1.				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)		GTCACGTGATCGTGGCAAAGA	0.448000										TSP Lung(27;0.18)			16	11					0	0	0.004007	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995720	57995720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:57995720G>A	ENST00000316770.2	-	1	670	c.628C>T	c.(628-630)Ctc>Ttc	p.L210F		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GTCAGCACGAGGATGCTCACG	0.627000													12	19					0	0	0.001855	0	0
SMARCA4	6597	broad.mit.edu	37	19	11152222	11152222	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:11152222C>T	ENST00000358026.2	+	31	4790	c.4506C>T	c.(4504-4506)atC>atT	p.I1502I	SMARCA4_ENST00000344626.4_Silent_p.I1470I|SMARCA4_ENST00000413806.3_Silent_p.I1440I|SMARCA4_ENST00000589677.1_Silent_p.I1440I|SMARCA4_ENST00000429416.3_Silent_p.I1470I|SMARCA4_ENST00000541122.2_Silent_p.I1440I|SMARCA4_ENST00000450717.3_Silent_p.I1440I|SMARCA4_ENST00000590574.1_Silent_p.I1437I|SMARCA4_ENST00000444061.3_Silent_p.I1437I	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1470	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)				ATGCCGTGATCAAGTACAAGG	0.612000			"""F, N, Mis"""		NSCLC								6	16					0	0	0.001984	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066197	70066197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:70066197C>T	ENST00000446444.1	-	6	1559	c.1551G>A	c.(1549-1551)tgG>tgA	p.W517*	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	517					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						TAGCAAACTTCCAGAAACAAA	0.403000													31	26					0	0	0.009535	0	0
GRM8	2918	broad.mit.edu	37	7	126086284	126086284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:126086284G>A	ENST00000339582.2	-	10	3381	c.2573C>T	c.(2572-2574)gCt>gTt	p.A858V	GRM8_ENST00000358373.3_Missense_Mutation_p.A858V|GRM8_ENST00000444921.2_Missense_Mutation_p.A858V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	858					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGTCACCACAGCCTTGAAGCT	0.428000										HNSCC(24;0.065)			42	38					0	0	0.011902	0	0
MLIP	90523	broad.mit.edu	37	6	53989384	53989384	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:53989384C>T	ENST00000514921.1	+	3	446	c.333C>T	c.(331-333)ttC>ttT	p.F111F	MLIP_ENST00000358276.5_Silent_p.F105F|MLIP_ENST00000502396.1_Silent_p.F122F|MLIP_ENST00000370877.2_Silent_p.F59F|MLIP_ENST00000274897.5_Silent_p.F111F|MLIP_ENST00000509997.1_Silent_p.F59F|MLIP_ENST00000370876.2_Silent_p.F49F|MLIP_ENST00000511744.1_3'UTR			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	111						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						AAAGGGAATTCGAAGCAAACA	0.453000													56	53					0	0	0.014410	0	0
RB1	5925	broad.mit.edu	37	13	48937001	48937001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr13:48937001C>T	ENST00000267163.4	+	8	907	c.769C>T	c.(769-771)Cag>Tag	p.Q257*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	257					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.Q257fs*12(2)|p.Q257*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGGCGAGGTCAGAACAGGAG	0.343000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			28	10					0	0	0.005443	0	0
DPYD	1806	broad.mit.edu	37	1	98165083	98165083	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:98165083G>A	ENST00000370192.3	-	6	604	c.504C>T	c.(502-504)atC>atT	p.I168I	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	168					'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)	TGATCTGTGGGATACTCATTG	0.383000													37	63					0	0	0.008740	0	0
SH2D7	646892	broad.mit.edu	37	15	78390853	78390853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:78390853C>T	ENST00000328828.5	+	4	560	c.560C>T	c.(559-561)tCt>tTt	p.S187F	SH2D7_ENST00000409568.2_Missense_Mutation_p.S51F	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	187										endometrium(2)|kidney(2)|lung(3)	7						CCCCGCTCTTCTCCAAAGCCC	0.612000													17	23					0	0	0.006122	0	0
RPE65	6121	broad.mit.edu	37	1	68904735	68904735	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:68904735C>T	ENST00000262340.5	-	9	941	c.888G>A	c.(886-888)agG>agA	p.R296R		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	296					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GGTACTTTTTCCTTTTTTTGT	0.323000													23	37					0	0	0.002780	0	0
CCNT1	904	broad.mit.edu	37	12	49087188	49087188	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:49087188G>A	ENST00000261900.3	-	9	2031	c.1809C>T	c.(1807-1809)tcC>tcT	p.S603S		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	603	Ser-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GTGAAGGGAAGGAGAAATTTA	0.488000													20	34					0	0	0.010504	0	0
RHBDD2	57414	broad.mit.edu	37	7	75511190	75511190	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:75511190C>T	ENST00000006777.6	+	2	357	c.222C>T	c.(220-222)atC>atT	p.I74I	RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000318622.4_5'UTR	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	74						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						AGAATCCCATCTCCCTGCTCT	0.582000													32	59					0	0	0.013726	0	0
ANKRD36B	57730	broad.mit.edu	37	2	98206009	98206009	+	RNA	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:98206009T>C	ENST00000443455.1	-	0	318							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		GTCTCTCTTATTGGCGTCATA	0.527000													3	7					0	0	0.004672	0	0
TNR	7143	broad.mit.edu	37	1	175328867	175328867	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:175328867G>A	ENST00000367674.1	-	15	3563	c.2854_splice	c.e15-1	p.A952_splice	TNR_ENST00000263525.2_Splice_Site_p.A952_splice	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	952	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTTGTCCATGGCTGAAACAGA	0.478000													10	28					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179641325	179641325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:179641325C>T	ENST00000589042.1	-	28	5490	c.5266G>A	c.(5266-5268)Gaa>Aaa	p.E1756K	TTN_ENST00000591111.1_Missense_Mutation_p.E1756K|TTN_ENST00000460472.2_Missense_Mutation_p.E1710K|TTN_ENST00000342175.6_Missense_Mutation_p.E1710K|TTN_ENST00000360870.5_Missense_Mutation_p.E1756K|TTN_ENST00000359218.5_Missense_Mutation_p.E1710K|TTN_ENST00000342992.6_Missense_Mutation_p.E1756K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1509	Ig-like 8.						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)			TACCCAAATTCATTGATCATA	0.468000													27	23					0	0	0.004656	0	0
CILP2	148113	broad.mit.edu	37	19	19655606	19655606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:19655606C>T	ENST00000586018.1	+	8	2372	c.2270C>T	c.(2269-2271)cCc>cTc	p.P757L	CILP2_ENST00000291495.4_Missense_Mutation_p.P751L			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	751						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AAGTTCACCCCCAGCGAGCAG	0.687000													7	16					0	0	0.001984	0	0
WDR7	23335	broad.mit.edu	37	18	54606596	54606596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:54606596C>T	ENST00000254442.3	+	25	4247	c.4036C>T	c.(4036-4038)Ctt>Ttt	p.L1346F	WDR7_ENST00000357574.3_Missense_Mutation_p.L1313F|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1346										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AAAGAAAGGTCTTCAAGAATG	0.299000													16	36					0	0	0.010504	0	0
EPHA10	284656	broad.mit.edu	37	1	38227191	38227191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:38227191C>T	ENST00000373048.4	-	3	735	c.736G>A	c.(736-738)Ggg>Agg	p.G246R	EPHA10_ENST00000427468.2_Missense_Mutation_p.G246R|EPHA10_ENST00000319637.6_Missense_Mutation_p.G246R	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	246						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAGGCTCCCCTTCCGAGTGC	0.731000													5	7					0	0	0.001168	0	0
FAR2	55711	broad.mit.edu	37	12	29446289	29446289	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:29446289T>G	ENST00000182377.4	+	3	514	c.246T>G	c.(244-246)atT>atG	p.I82M	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Missense_Mutation_p.I82M|FAR2_ENST00000547116.1_5'UTR	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	82					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TCAGAGCTATTTATGCAGATC	0.368000													30	27					0	0	0.009535	0	0
ATP10A	57194	broad.mit.edu	37	15	25958939	25958939	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:25958939G>A	ENST00000356865.6	-	10	2337	c.2226C>T	c.(2224-2226)ttC>ttT	p.F742F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	742					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.F742F(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGACGGAATCGAAACCCAGTG	0.602000													31	22					0	0	0.009535	0	0
SERPINI2	5276	broad.mit.edu	37	3	167184935	167184935	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:167184935T>C	ENST00000476257.1	-	4	684	c.386A>G	c.(385-387)gAa>gGa	p.E129G	SERPINI2_ENST00000461846.1_Missense_Mutation_p.E129G|SERPINI2_ENST00000264677.4_Missense_Mutation_p.E129G|SERPINI2_ENST00000471111.1_Missense_Mutation_p.E129G			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	129					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CTGAAAAAATTCCTTGTTGCC	0.368000													18	22					0	0	0.008871	0	0
CNOT4	4850	broad.mit.edu	37	7	135047860	135047860	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:135047860G>A	ENST00000541284.1	-	12	2249	c.1919C>T	c.(1918-1920)gCc>gTc	p.A640V	CNOT4_ENST00000361528.4_Missense_Mutation_p.A566V|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000423368.2_Missense_Mutation_p.A569V|CNOT4_ENST00000451834.1_Missense_Mutation_p.A637V	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	309					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CTCTGTGAGGGCCTGAAGGGA	0.532000													51	61					0	0	0.014410	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667784	106667784	+	RNA	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:106667784C>T	ENST00000390606.2	-	0	209																											ATGCCATAATCATCAAAGGTG	0.572000													38	96					0	0	0.005524	0	0
NPIPB15	440348	broad.mit.edu	37	16	74425417	74425417	+	Silent	SNP	T	T	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:74425417T>C	ENST00000429990.1	+	7	867	c.771T>C	c.(769-771)acT>acC	p.T257T						nuclear pore complex interacting protein family, member B15																		ATTCTATAACTGATAACTCCC	0.502000													13	33					0	0	0.002450	0	0
CYP2C9	1559	broad.mit.edu	37	10	96748773	96748773	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:96748773C>T	ENST00000260682.6	+	9	1473	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	487					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGCTGTGCTTCATTCCTGTCT	0.498000													46	48					0	0	0.014410	0	0
CDH18	1016	broad.mit.edu	37	5	19473405	19473405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:19473405C>T	ENST00000507958.1	-	15	3293	c.2303G>A	c.(2302-2304)gGa>gAa	p.G768E	CDH18_ENST00000382275.1_Missense_Mutation_p.G768E|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.G768E			Q13634	CAD18_HUMAN	cadherin 18, type 2	768					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)					TCCCCAGTCTCCAAGGTAGTG	0.448000													25	30					0	0	0.003954	0	0
NOVA1	4857	broad.mit.edu	37	14	26917300	26917300	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:26917300G>A	ENST00000539517.2	-	5	1706	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	NOVA1_ENST00000465357.2_Silent_p.F439F|NOVA1_ENST00000267422.7_Silent_p.F341F	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	466	KH 3.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGCCAGGTACGAATTCTCCTT	0.423000													22	18					0	0	0.010504	0	0
ITGB5	3693	broad.mit.edu	37	3	124536491	124536491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:124536491G>A	ENST00000296181.4	-	8	1401	c.1105C>T	c.(1105-1107)Caa>Taa	p.Q369*	ITGB5_ENST00000488466.1_Intron	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	369	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		ATAATCAGTTGAATAATATTT	0.438000													10	18					0	0	0.008291	0	0
KDR	3791	broad.mit.edu	37	4	55956127	55956127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:55956127C>T	ENST00000263923.4	-	23	3483	c.3188G>A	c.(3187-3189)gGa>gAa	p.G1063E	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1063	Protein kinase.				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)	ACTTACATCTCCTTTTCTGAC	0.413000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			22	25					0	0	0.003330	0	0
ATP13A5	344905	broad.mit.edu	37	3	193023421	193023421	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:193023421C>T	ENST00000342358.4	-	23	2722	c.2605G>A	c.(2605-2607)Gag>Aag	p.E869K	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	869					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)		GCTTCCTGCTCTGATAATGAA	0.458000													43	52					0	0	0.011902	0	0
FABP1	2168	broad.mit.edu	37	2	88425737	88425737	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:88425737C>T	ENST00000393750.3	-	2	229	c.198G>A	c.(196-198)ggG>ggA	p.G66G	FABP1_ENST00000295834.3_Silent_p.G66G|FABP1_ENST00000495375.1_5'UTR			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	66					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						CACATTCCTCCCCCACCGTGA	0.532000													67	90					0	0	0.014410	0	0
MTFMT	123263	broad.mit.edu	37	15	65297275	65297275	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:65297275C>T	ENST00000220058.4	-	8	906		c.e8-1			NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase							mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	AATTTTGGATCTGAAGAATGG	0.323000													20	24					0	0	0.010504	0	0
CDH18	1016	broad.mit.edu	37	5	19483628	19483628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:19483628C>T	ENST00000507958.1	-	14	2654	c.1664G>A	c.(1663-1665)aGa>aAa	p.R555K	CDH18_ENST00000506372.1_Intron|CDH18_ENST00000382275.1_Missense_Mutation_p.R555K|CDH18_ENST00000274170.4_Missense_Mutation_p.R555K|CDH18_ENST00000502796.1_Intron			Q13634	CAD18_HUMAN	cadherin 18, type 2	555	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)					TCGACTAAATCTCCTCCGCCT	0.443000													8	15					0	0	0.003080	0	0
ADH1B	125	broad.mit.edu	37	4	100235037	100235037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr4:100235037C>T	ENST00000305046.8	-	6	836	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	ADH1B_ENST00000394887.3_Missense_Mutation_p.E217K			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	257					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCAGTCATTTCCTTTAGCACT	0.463000													118	105					0	0	0.014410	0	0
PDE1C	5137	broad.mit.edu	37	7	31815313	31815313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:31815313G>A	ENST00000396193.1	-	18	2698	c.2105C>T	c.(2104-2106)cCa>cTa	p.P702L	PDE1C_ENST00000396191.1_Missense_Mutation_p.P642L|PDE1C_ENST00000321453.7_Missense_Mutation_p.P642L	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	642					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GCTGGTGCTTGGGGCTGGTGA	0.488000													10	15					0	0	0.008291	0	0
BCL2L12	83596	broad.mit.edu	37	19	50172183	50172183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:50172183C>T	ENST00000246785.3	+	4	836	c.578C>T	c.(577-579)cCg>cTg	p.P193L	BCL2L12_ENST00000246784.3_Silent_p.S145S|BCL2L12_ENST00000441864.2_Missense_Mutation_p.P192L	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	193					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CTGAAATCTCCGCCCAGCCCA	0.577000													13	27					0	0	0.013537	0	0
MAP3K13	9175	broad.mit.edu	37	3	185190956	185190956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:185190956G>A	ENST00000265026.3	+	11	2171	c.1837G>A	c.(1837-1839)Gaa>Aaa	p.E613K	MAP3K13_ENST00000446828.1_Missense_Mutation_p.E406K|MAP3K13_ENST00000443863.1_Missense_Mutation_p.E469K|MAP3K13_ENST00000535426.1_Missense_Mutation_p.E469K|MAP3K13_ENST00000424227.1_Missense_Mutation_p.E613K	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	613					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GCCAGCCCAGGAAAATTCACC	0.532000													94	114					0	0	0.014410	0	0
SPNS2	124976	broad.mit.edu	37	17	4435968	4435968	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:4435968C>T	ENST00000329078.3	+	6	1134	c.924C>T	c.(922-924)gcC>gcT	p.A308A		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	308					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						ATATGAAGGCCCTGATTCGAA	0.612000													15	20					0	0	0.002450	0	0
NXF5	55998	broad.mit.edu	37	X	101097735	101097735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:101097735C>T	ENST00000537026.1	-	3	389	c.30G>A	c.(28-30)atG>atA	p.M10I	NXF5_ENST00000473265.2_Missense_Mutation_p.M10I|NXF5_ENST00000361708.2_Missense_Mutation_p.M10I	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	10					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.M10I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						ACCATTTCCTCATGTTTTCAT	0.423000													79	5					0	0	0.014410	0	0
PHLPP1	23239	broad.mit.edu	37	18	60608997	60608997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:60608997C>T	ENST00000400316.4	+	11	3252	c.1471C>T	c.(1471-1473)Cca>Tca	p.P491S	PHLPP1_ENST00000262719.5_Missense_Mutation_p.P1003S	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1003					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						AAGCCTTCCTCCAGCCACGCT	0.448000													13	11					0	0	0.003163	0	0
RNF19A	25897	broad.mit.edu	37	8	101282222	101282222	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:101282222A>T	ENST00000519449.1	-	5	1219	c.903T>A	c.(901-903)tgT>tgA	p.C301*	RNF19A_ENST00000341084.2_Nonsense_Mutation_p.C301*	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	301					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CACATCGTGGACATGGCTTTA	0.363000													24	29					0	0	0.004656	0	0
MUC16	94025	broad.mit.edu	37	19	9087679	9087679	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:9087679G>A	ENST00000397910.4	-	1	4339	c.4136C>T	c.(4135-4137)cCg>cTg	p.P1379L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1379	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						TTTTGTGGCCGGACTGGTGAG	0.453000													46	32					0	0	0.014410	0	0
FCRL1	115350	broad.mit.edu	37	1	157771832	157771832	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:157771832C>T	ENST00000358292.3	-	5	810	c.759G>A	c.(757-759)tcG>tcA	p.S253S	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Silent_p.S253S|FCRL1_ENST00000491942.1_Silent_p.S253S	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	253	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			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)			CAGAGGGGGCCGACCTGCTCC	0.582000													23	69					0	0	0.014323	0	0
ANAPC1	64682	broad.mit.edu	37	2	112614438	112614438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:112614438C>T	ENST00000341068.3	-	12	2156	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	462					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGGGTTTTATCATTACTCTCT	0.358000													5	21					0	0	0.001168	0	0
COL5A3	50509	broad.mit.edu	37	19	10104324	10104324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:10104324G>A	ENST00000264828.3	-	18	1751	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	556	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)			GGCAGCCCAGGGAGGCCATCG	0.592000													15	27					0	0	0.002450	0	0
CACNG7	59284	broad.mit.edu	37	19	54445290	54445290	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:54445290G>A	ENST00000391767.1	+	6	783	c.570_splice	c.e6-1	p.G191_splice	CACNG7_ENST00000222212.2_Splice_Site_p.G191_splice			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	191				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	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|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CTTGCCGCAGGGGGCCGGCGT	0.672000													4	8					0	0	0.000602	0	0
COL5A1	1289	broad.mit.edu	37	9	137657545	137657545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:137657545G>A	ENST00000371817.3	+	21	2467	c.2053G>A	c.(2053-2055)Ggg>Agg	p.G685R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	685	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)		TGGTCTGCTTGGGCCGAAGGG	0.627000													28	45					0	0	0.003755	0	0
MARCH10	162333	broad.mit.edu	37	17	60782887	60782887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:60782887C>T	ENST00000544856.2	-	11	2759	c.2381G>A	c.(2380-2382)gGg>gAg	p.G794E	MARCH10_ENST00000456609.2_Intron|MARCH10_ENST00000311269.5_Intron|MARCH10_ENST00000583600.1_Intron|RP11-156L14.1_ENST00000584597.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	0							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAGGACTGGCCCCCAAAACCT	0.418000													12	20					0	0	0.003163	0	0
KRT10	3858	broad.mit.edu	37	17	38975078	38975078	+	Missense_Mutation	SNP	G	G	A	rs112018671		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:38975078G>A	ENST00000269576.5	-	7	1718	c.1709C>T	c.(1708-1710)tCt>tTt	p.S570F		NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	570	Gly-rich.|Ser-rich.|Tail.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				GGACCCGGAAGAGGAGGACTT	0.632000													9	19					0	0	0.008291	0	0
ABI2	10152	broad.mit.edu	37	2	204231698	204231698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:204231698C>T	ENST00000261016.6	+	2	336	c.5C>T	c.(4-6)tCc>tTc	p.S2F	ABI2_ENST00000422511.2_Silent_p.V72V|ABI2_ENST00000295851.4_Silent_p.V72V|ABI2_ENST00000261017.5_Silent_p.V72V|ABI2_ENST00000424558.1_Silent_p.V72V|ABI2_ENST00000430418.1_Silent_p.V72V			Q9NYB9	ABI2_HUMAN	abl-interactor 2	0					actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CCAACAATGTCCTGCAGATGC	0.438000													10	6					0	0	0.010729	0	0
NPBWR2	2832	broad.mit.edu	37	20	62738130	62738130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:62738130G>A	ENST00000369768.1	-	1	394	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	19						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CCCATCGTGGGGAGGGAGAAG	0.637000													19	55					0	0	0.010504	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586826	42586826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:42586826G>A	ENST00000289957.2	+	5	504	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	126					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CGGCCGCTTCGAAGGCTCCCT	0.507000													14	17					0	0	0.001855	0	0
LOX	4015	broad.mit.edu	37	5	121409775	121409775	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:121409775A>C	ENST00000231004.4	-	4	1267	c.968T>G	c.(967-969)tTc>tGc	p.F323C	LOX_ENST00000513319.1_5'UTR|SRFBP1_ENST00000504881.1_Intron	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	323	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TTCAAGACAGAAACTTGCTTT	0.488000													52	75					0	0	0.014410	0	0
PDE8B	8622	broad.mit.edu	37	5	76703223	76703223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:76703223C>T	ENST00000264917.5	+	13	1351	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C	PDE8B_ENST00000342343.4_Missense_Mutation_p.R416C|PDE8B_ENST00000333194.4_Missense_Mutation_p.R436C|PDE8B_ENST00000340978.3_Missense_Mutation_p.R389C|PDE8B_ENST00000346042.3_Missense_Mutation_p.R339C	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	436					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.R436C(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCTGCAGAATCGTCGCTATCC	0.592000													91	126					0	0	0.014410	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174815	150174815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:150174815G>A	ENST00000307271.3	+	5	2519	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	649						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.E649K(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AAATGTCCAGGAAATGTCCCA	0.413000													20	24					0	0	0.010504	0	0
FGF3	2248	broad.mit.edu	37	11	69631151	69631151	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:69631151G>A	ENST00000334134.2	-	2	351	c.261C>T	c.(259-261)gcC>gcT	p.A87A		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	87					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			GACCCCTGATGGCCACAATGC	0.627000													32	30					0	0	0.004289	0	0
FRMD3	257019	broad.mit.edu	37	9	85964641	85964641	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr9:85964641C>T	ENST00000304195.3	-	4	533	c.327G>A	c.(325-327)gtG>gtA	p.V109V	FRMD3_ENST00000376438.1_Silent_p.V109V	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	109	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GGTAGAATTTCACTCTAAAGC	0.398000													6	9					0	0	0.001984	0	0
KIF22	3835	broad.mit.edu	37	16	29809940	29809940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:29809940C>T	ENST00000561482.1	+	4	854	c.217C>T	c.(217-219)Cca>Tca	p.P73S	KIF22_ENST00000569382.2_Missense_Mutation_p.P73S|KIF22_ENST00000400751.5_Missense_Mutation_p.P73S|KIF22_ENST00000160827.4_Missense_Mutation_p.P141S|KIF22_ENST00000400750.2_5'UTR	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	141	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GCTGGGCAGCCCAGAGCAACC	0.602000													35	56					0	0	0.005524	0	0
OR52H1	390067	broad.mit.edu	37	11	5565833	5565833	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:5565833G>A	ENST00000322653.4	-	1	946	c.921C>T	c.(919-921)atC>atT	p.I307I	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTATCTCTGATCTGCTTGG	0.393000													32	20					0	0	0.010818	0	0
CACNA1E	777	broad.mit.edu	37	1	181549870	181549870	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:181549870C>T	ENST00000526775.1	+	6	1074	c.909C>T	c.(907-909)ttC>ttT	p.F303F	CACNA1E_ENST00000358338.5_Silent_p.F254F|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Silent_p.F303F|CACNA1E_ENST00000360108.3_Silent_p.F303F|CACNA1E_ENST00000357570.5_Silent_p.F254F|CACNA1E_ENST00000367570.1_Silent_p.F303F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	303					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGACTGTCTTCCAGTGCATCA	0.542000													16	56					0	0	0.004007	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951123	30951123	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr22:30951123C>T	ENST00000402321.1	-	3	1406	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q	GAL3ST1_ENST00000443111.2_Silent_p.Q363Q|GAL3ST1_ENST00000406361.1_Silent_p.Q363Q|GAL3ST1_ENST00000406955.1_Silent_p.Q363Q|GAL3ST1_ENST00000402369.1_Silent_p.Q363Q|GAL3ST1_ENST00000338911.5_Silent_p.Q363Q|GAL3ST1_ENST00000401975.1_Silent_p.Q363Q			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	363					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCTGCCAGGGCTGCATGGCCT	0.706000													14	12					0	0	0.003163	0	0
BEST3	144453	broad.mit.edu	37	12	70049327	70049327	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:70049327G>A	ENST00000330891.5	-	10	1593	c.1367C>T	c.(1366-1368)cCa>cTa	p.P456L	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.P350L|BEST3_ENST00000488961.1_Missense_Mutation_p.P243L	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	456						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GCTTCCTTCTGGGAAGCAGGA	0.592000													25	31					0	0	0.002780	0	0
TPSD1	23430	broad.mit.edu	37	16	1306584	1306584	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:1306584C>T	ENST00000211076.3	+	2	298	c.150C>T	c.(148-150)ccC>ccT	p.P50P	TPSD1_ENST00000397534.2_Silent_p.P43P	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	50	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCAAGTGGCCCTGGCAGGTGA	0.692000													37	35					0	0	0.007835	0	0
MYH8	4626	broad.mit.edu	37	17	10314205	10314205	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr17:10314205G>A	ENST00000403437.2	-	15	1570	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	492	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTGGTGGTTGAAAAACTGTT	0.448000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				34	39					0	0	0.004289	0	0
CXorf22	170063	broad.mit.edu	37	X	35993925	35993925	+	Missense_Mutation	SNP	C	C	T	rs141343030	byFrequency	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:35993925C>T	ENST00000297866.5	+	15	2674	c.2608C>T	c.(2608-2610)Cgg>Tgg	p.R870W		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	870								p.R870W(1)		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						AACATGTTTTCGGGGGACAGT	0.433000													54	1					0	0	0.014410	0	0
CCDC178	374864	broad.mit.edu	37	18	30873146	30873146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:30873146C>T	ENST00000383096.3	-	12	1335	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	CCDC178_ENST00000402325.1_Missense_Mutation_p.E385K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.E385K|CCDC178_ENST00000583930.1_Missense_Mutation_p.E385K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E385K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E385K|CCDC178_ENST00000579947.1_Missense_Mutation_p.E385K					coiled-coil domain containing 178																		GAATGTAATTCATTTTTTGAT	0.259000													10	7					0	0	0.010729	0	0
SLC26A9	115019	broad.mit.edu	37	1	205888086	205888086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:205888086C>T	ENST00000367135.3	-	19	2251	c.2138G>A	c.(2137-2139)gGa>gAa	p.G713E	SLC26A9_ENST00000367134.2_Missense_Mutation_p.G713E|SLC26A9_ENST00000340781.4_Missense_Mutation_p.G713E	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	713	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AAAGACGCCTCCATGGCTAAT	0.502000											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	317	129					0	0	0.014410	0	0
PDE1A	5136	broad.mit.edu	37	2	183387031	183387031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:183387031C>T	ENST00000435564.1	-	1	273	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	PDE1A_ENST00000358139.2_Missense_Mutation_p.E25K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E25K|PDE1A_ENST00000456212.1_Missense_Mutation_p.E25K|PDE1A_ENST00000410103.1_Missense_Mutation_p.E25K|PDE1A_ENST00000536095.1_5'UTR	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	25	Calmodulin-binding (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CACATTTTTTCAGTCTGTTCT	0.393000													10	20					0	0	0.008291	0	0
MGAM	8972	broad.mit.edu	37	7	141754683	141754683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:141754683C>T	ENST00000475668.2	+	27	3343	c.3289C>T	c.(3289-3291)Cgc>Tgc	p.R1097C	MGAM_ENST00000549489.2_Missense_Mutation_p.R1097C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1097	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R1097C(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATTGAAATTCGCCGGAAGAG	0.498000													17	23					0	0	0.004990	0	0
BCAP29	55973	broad.mit.edu	37	7	107253875	107253875	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr7:107253875C>T	ENST00000379119.2	+	6	702	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	BCAP29_ENST00000379121.2_Nonsense_Mutation_p.Q136*|BCAP29_ENST00000465919.1_Nonsense_Mutation_p.Q136*|BCAP29_ENST00000379117.2_Nonsense_Mutation_p.Q230*|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000005259.4_Nonsense_Mutation_p.Q230*|BCAP29_ENST00000445771.2_Nonsense_Mutation_p.Q230*	NM_001008405.2	NP_001008405.1	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	230					apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						CTCTGAACTTCAGGTGGGTGT	0.358000													12	16					0	0	0.010729	0	0
CDH8	1006	broad.mit.edu	37	16	61935302	61935302	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:61935302G>A	ENST00000577390.1	-	3	1282	c.328C>T	c.(328-330)Caa>Taa	p.Q110*	CDH8_ENST00000299345.6_Nonsense_Mutation_p.Q110*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.Q110*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.Q110*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	110	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCATTTATTTGAAATATGGTC	0.418000													19	2					0	0	0.007413	0	0
GALNT14	79623	broad.mit.edu	37	2	31189136	31189136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:31189136G>A	ENST00000349752.5	-	3	971	c.332C>T	c.(331-333)cCa>cTa	p.P111L	GALNT14_ENST00000420311.2_Missense_Mutation_p.P76L|GALNT14_ENST00000406653.1_Missense_Mutation_p.P91L|GALNT14_ENST00000356174.3_Intron|GALNT14_ENST00000324589.5_Missense_Mutation_p.P116L	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	111	Catalytic subdomain A.					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)					GCTAGTGGGTGGAAGGTCCGT	0.572000													9	19					0	0	0.010729	0	0
ENOX2	10495	broad.mit.edu	37	X	129804161	129804161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:129804161G>A	ENST00000338144.3	-	8	976	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	ENOX2_ENST00000394363.1_Missense_Mutation_p.R158C|ENOX2_ENST00000370935.1_Missense_Mutation_p.R158C|ENOX2_ENST00000370927.1_Missense_Mutation_p.R187C	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	187	RRM.				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GAGCCCAGGCGAATGCGGTAA	0.522000													16	0					0	0	0.003163	0	0
FITM2	128486	broad.mit.edu	37	20	42939751	42939751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:42939751C>T	ENST00000396825.3	-	1	58	c.38G>A	c.(37-39)gGa>gAa	p.G13E		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	13					cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				endometrium(2)|lung(2)|skin(2)	6						CACCAGCGTTCCCCGCAACAA	0.701000											OREG0025965	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	7					0	0	0.009096	0	0
AGBL2	79841	broad.mit.edu	37	11	47726120	47726120	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:47726120G>A	ENST00000525123.1	-	7	846	c.561C>T	c.(559-561)gtC>gtT	p.V187V	AGBL2_ENST00000298861.4_Silent_p.V187V|AGBL2_ENST00000357610.3_Silent_p.V187V|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Silent_p.V149V	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	187					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TTTCCTTGATGACCTCACATT	0.413000													23	27					0	0	0.014323	0	0
SELPLG	6404	broad.mit.edu	37	12	109017612	109017612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:109017612C>T	ENST00000388962.3	-	3	601	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	SELPLG_ENST00000550948.1_Missense_Mutation_p.A158T|SELPLG_ENST00000228463.6_Missense_Mutation_p.A174T	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	158	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCCTCCGTGGCCGTCAGTCGA	0.637000													23	32					0	0	0.003954	0	0
FBLIM1	54751	broad.mit.edu	37	1	16095071	16095071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:16095071G>A	ENST00000375766.3	+	5	1127	c.487G>A	c.(487-489)Gag>Aag	p.E163K	FBLIM1_ENST00000375771.1_Missense_Mutation_p.E163K|FBLIM1_ENST00000441801.2_Missense_Mutation_p.E163K|FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000400773.1_Intron	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	163	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CAGGCCCATGGAGGAAGAGCT	0.657000													12	26					0	0	0.003163	0	0
NLRP10	338322	broad.mit.edu	37	11	7982253	7982253	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:7982253G>A	ENST00000328600.2	-	2	1067	c.906C>T	c.(904-906)ccC>ccT	p.P302P		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	302	NACHT.						ATP binding	p.P302P(1)		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)		GTTTCAGCAAGGGCTCCAGAT	0.547000													46	51					0	0	0.014410	0	0
ENO2	2026	broad.mit.edu	37	12	7026758	7026758	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr12:7026758C>T	ENST00000535366.1	+	5	950	c.324C>T	c.(322-324)gcC>gcT	p.A108A	ENO2_ENST00000229277.1_Silent_p.A108A|ENO2_ENST00000541477.1_Silent_p.A108A|ENO2_ENST00000538763.1_Silent_p.A65A|ENO2_ENST00000545045.2_Intron|ENO2_ENST00000544774.1_Silent_p.A65A			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	108					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGTTTGGGGCCAATGCCATCC	0.572000													19	47					0	0	0.002780	0	0
ZFP41	286128	broad.mit.edu	37	8	144332413	144332413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:144332413C>T	ENST00000330701.4	+	2	769	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	ZFP41_ENST00000522452.1_Nonsense_Mutation_p.Q134*|ZFP41_ENST00000520584.1_Nonsense_Mutation_p.Q134*	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	134					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CACCAAACACCAGAGGACTCA	0.577000													25	37					0	0	0.003330	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100821580	100821580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:100821580G>A	ENST00000268070.4	-	4	748	c.643C>T	c.(643-645)Cct>Tct	p.P215S		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	215					proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TCCCGCGAAGGCCTGCCCCAC	0.582000													8	7					0	0	0.002450	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128956396	128956396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:128956396C>T	ENST00000274487.4	+	9	1691	c.1546C>T	c.(1546-1548)Ctt>Ttt	p.L516F	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	516	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGGACAGAATCTTGGTGACGT	0.403000													30	36					0	0	0.010818	0	0
TTN	7273	broad.mit.edu	37	2	179650658	179650658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:179650658C>T	ENST00000589042.1	-	14	2511	c.2287G>A	c.(2287-2289)Gca>Aca	p.A763T	TTN_ENST00000591111.1_Missense_Mutation_p.A763T|TTN_ENST00000460472.2_Missense_Mutation_p.A717T|TTN_ENST00000342175.6_Missense_Mutation_p.A717T|TTN_ENST00000360870.5_Missense_Mutation_p.A763T|TTN_ENST00000359218.5_Missense_Mutation_p.A717T|TTN_ENST00000342992.6_Missense_Mutation_p.A763T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	763							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)			GGCTTGACTGCTTTAGGGACA	0.493000													22	25					0	0	0.010504	0	0
LGI1	9211	broad.mit.edu	37	10	95557376	95557376	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:95557376C>T	ENST00000371418.4	+	8	1750	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.S449F	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	497					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AGTGATTACTCCTTTACTCAA	0.393000													21	25					0	0	0.012319	0	0
CDH6	1004	broad.mit.edu	37	5	31323113	31323113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:31323113G>A	ENST00000265071.2	+	12	2336	c.2071G>A	c.(2071-2073)Gac>Aac	p.D691N		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	691					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTACGAAGGGACATTGTGCC	0.498000													14	17					0	0	0.001855	0	0
KIAA1217	56243	broad.mit.edu	37	10	24508700	24508700	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:24508700C>T	ENST00000376454.3	+	2	246	c.216C>T	c.(214-216)ccC>ccT	p.P72P	KIAA1217_ENST00000376452.3_Silent_p.P72P|KIAA1217_ENST00000458595.1_Silent_p.P72P|KIAA1217_ENST00000376462.1_5'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	72					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						TAGGGGGGCCCCGAAGTTCCA	0.512000													16	32					0	0	0.004990	0	0
LOXL2	4017	broad.mit.edu	37	8	23225612	23225612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:23225612C>T	ENST00000389131.3	-	2	622	c.253G>A	c.(253-255)Gat>Aat	p.D85N		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	85	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AAGTCGTCATCGCACACGGTG	0.642000													18	29					0	0	0.004990	0	0
STOX1	219736	broad.mit.edu	37	10	70645141	70645141	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:70645141C>T	ENST00000298596.6	+	3	1672	c.1589C>T	c.(1588-1590)cCt>cTt	p.P530L	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.P530L|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.P420L	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	530						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AAGGAAAAGCCTTTCCAAAAG	0.443000													10	7					0	0	0.006214	0	0
GRM1	2911	broad.mit.edu	37	6	146755552	146755552	+	Missense_Mutation	SNP	C	C	T	rs150389935	by1000genomes	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:146755552C>T	ENST00000361719.2	+	9	3675	c.3205C>T	c.(3205-3207)Ccg>Tcg	p.P1069S	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1069S|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1069	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GTACCCGCCCCCGCCACCTCC	0.697000													21	2					0	0	0.008871	0	0
ELTD1	64123	broad.mit.edu	37	1	79403498	79403498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:79403498C>T	ENST00000370742.3	-	6	817	c.754G>A	c.(754-756)Gat>Aat	p.D252N		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	252					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTACCTATATCCGTTGAATTT	0.378000													33	41					0	0	0.003755	0	0
SLC22A2	6582	broad.mit.edu	37	6	160664704	160664704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr6:160664704C>T	ENST00000366953.3	-	7	1437	c.1179G>A	c.(1177-1179)atG>atA	p.M393I	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	393					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TGAGGATGATCATGAAGGCAG	0.532000													26	9					0	0	0.006320	0	0
PAK3	5063	broad.mit.edu	37	X	110366492	110366492	+	Missense_Mutation	SNP	G	G	A	rs150741170		TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chrX:110366492G>A	ENST00000519681.1	+	5	603	c.161G>A	c.(160-162)gGa>gAa	p.G54E	PAK3_ENST00000262836.4_Missense_Mutation_p.G54E|PAK3_ENST00000372010.1_Missense_Mutation_p.G54E|PAK3_ENST00000446737.1_Missense_Mutation_p.G54E|PAK3_ENST00000372007.4_Missense_Mutation_p.G54E|PAK3_ENST00000425146.1_Missense_Mutation_p.G54E|PAK3_ENST00000417227.1_Missense_Mutation_p.G54E|PAK3_ENST00000360648.4_Missense_Mutation_p.G54E|PAK3_ENST00000518291.1_Missense_Mutation_p.G54E			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	54					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						ATCTTCCCAGGAGGAGGGGAT	0.448000										TSP Lung(19;0.15)			31	1					0	0	0.008361	0	0
ARSB	411	broad.mit.edu	37	5	78251203	78251203	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr5:78251203G>A	ENST00000264914.4	-	4	1349	c.813C>T	c.(811-813)tcC>tcT	p.S271S	ARSB_ENST00000565165.1_Silent_p.S271S|ARSB_ENST00000396151.3_Silent_p.S271S	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	271					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CATCCATAAGGGACACCATTC	0.453000													21	26					0	0	0.008871	0	0
SLC33A1	9197	broad.mit.edu	37	3	155560232	155560232	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:155560232G>A	ENST00000392845.2	-	2	1332	c.952C>T	c.(952-954)Cta>Tta	p.L318L	SLC33A1_ENST00000359479.3_Silent_p.L318L	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	318					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTGCAGTTAGAATCAGAAGG	0.318000													10	12					0	0	0.008291	0	0
SLC7A2	6542	broad.mit.edu	37	8	17396429	17396429	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr8:17396429C>T	ENST00000470360.1	+	3	213	c.96C>T	c.(94-96)ctC>ctT	p.L32L	SLC7A2_ENST00000004531.10_Silent_p.L32L|SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000398090.3_Silent_p.L32L			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	0					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GCAAGTTTCTCCTGTAAGATT	0.403000													14	24					0	0	0.003163	0	0
OR5M1	390168	broad.mit.edu	37	11	56380655	56380655	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:56380655C>T	ENST00000526538.1	-	1	323	c.324G>A	c.(322-324)gtG>gtA	p.V108V		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						ACTCAGTGATCACCAGGGCGA	0.458000													25	32					0	0	0.005443	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525073	150525073	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:150525073G>A	ENST00000271643.4	+	4	311	c.75G>A	c.(73-75)caG>caA	p.Q25Q	ADAMTSL4_ENST00000369041.5_Silent_p.Q25Q|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Silent_p.Q25Q|ADAMTSL4_ENST00000369039.5_Silent_p.Q25Q	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	25					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTTGGATCAGGAGGTGAGTT	0.622000													33	7					0	0	0.004289	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558451	140558451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	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													28	361					0	0	0.008361	0	0
WDR7	23335	broad.mit.edu	37	18	54363639	54363639	+	Silent	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr18:54363639C>T	ENST00000254442.3	+	12	1735	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	WDR7_ENST00000357574.3_Silent_p.F508F|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	508										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AACATATCTTCTGTGTTCATG	0.363000													13	31					0	0	0.003163	0	0
CHRD	8646	broad.mit.edu	37	3	184100507	184100507	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr3:184100507G>A	ENST00000204604.1	+	8	1173	c.927G>A	c.(925-927)gaG>gaA	p.E309E	CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Silent_p.E309E|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Silent_p.E309E	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	309	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGACACAGAGGACTCCTTGC	0.587000													30	34					0	0	0.007291	0	0
OR2T33	391195	broad.mit.edu	37	1	248436940	248436940	+	Silent	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:248436940G>A	ENST00000318021.2	-	1	198	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGCTCAGGAGGAAGTACATGG	0.532000													101	54					0	0	0.014410	0	0
NINL	22981	broad.mit.edu	37	20	25450664	25450664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr20:25450664C>T	ENST00000278886.6	-	18	3389	c.3316G>A	c.(3316-3318)Gag>Aag	p.E1106K	NINL_ENST00000422516.1_Missense_Mutation_p.E757K	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1106					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTTCAAGCTCTTGCCGAACC	0.502000													59	74					0	0	0.014410	0	0
NEBL	10529	broad.mit.edu	37	10	21185901	21185901	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:21185901C>T	ENST00000377122.4	-	2	535	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	NEBL_ENST00000377119.1_Missense_Mutation_p.E47K|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	47					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTAATGAGTTCCGTGCATTTT	0.358000													30	44					0	0	0.003271	0	0
FAT3	120114	broad.mit.edu	37	11	92523262	92523262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr11:92523262G>A	ENST00000298047.6	+	7	4506	c.4489G>A	c.(4489-4491)Gtt>Att	p.V1497I	FAT3_ENST00000409404.2_Missense_Mutation_p.V1497I|FAT3_ENST00000525166.1_Missense_Mutation_p.V1347I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1497	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGCTACACTGTTCATAGCAG	0.507000										TCGA Ovarian(4;0.039)			161	162					0	0	0.014410	0	0
PPP1R14D	54866	broad.mit.edu	37	15	41120596	41120596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr15:41120596C>T	ENST00000299174.5	-	1	311	c.244G>A	c.(244-246)Gag>Aag	p.E82K	PPP1R14D_ENST00000427255.2_Missense_Mutation_p.E82K	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	82					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TGGAAGAGCTCCTGAACTTGA	0.627000													40	53					0	0	0.006999	0	0
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	RNA	DEL	CCA	CCA	-	rs28552466	by1000genomes	TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr1:121137791_121137793delCCA	ENST00000437515.1	-	0	329																											ATTTCGCCCTCCACCGCCGCCGC	0.631													4	9	---	---	---	---					
SLC9A4	389015	broad.mit.edu	37	2	103119958	103119959	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr2:103119958_103119959delAT	ENST00000295269.4	+	3	1229_1230	c.772_773delAT	c.(772-774)afs	p.I258fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	258					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATTTGAAGACATAGAAACTGTC	0.356													15	16	---	---	---	---					
ZNF503	84858	broad.mit.edu	37	10	77142033	77142034	+	RNA	DEL	AC	AC	-			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr10:77142033_77142034delAC	ENST00000418818.2	-	0	142																											CACAACAGCAACAAATGTTATT	0.327													4	4	---	---	---	---					
OTX2-AS1	100309464	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344																											CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483													2	4	---	---	---	---					
ZNF174	7727	broad.mit.edu	37	16	3454662	3454663	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr16:3454662_3454663insT	ENST00000572544.1	+	2	670_671	c.639_640insT	c.(637-642)gctttcfs	p.AF213fs	ZNF174_ENST00000344823.5_Intron|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000575752.1_Intron|ZNF174_ENST00000571936.1_Intron|ZNF174_ENST00000268655.4_Intron			Q15697	ZN174_HUMAN	zinc finger protein 174	0					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						AACACTCTGCCTTTTCTCTCCC	0.460													9	20	---	---	---	---					
ZNF507	22847	broad.mit.edu	37	19	32845455	32845456	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A29B-06A-11D-A197-08	TCGA-EE-A29B-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa4d35e3-fc38-4e26-a9e0-521a648acec1	9a345f68-0a6c-433e-91af-1bd41491520c	g.chr19:32845455_32845456insT	ENST00000311921.3	+	2	1911_1912	c.1719_1720insT	c.(1717-1722)gatgtcfs	p.V574fs	ZNF507_ENST00000544431.1_Frame_Shift_Ins_p.V574fs|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Frame_Shift_Ins_p.V574fs	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					GTAGGCAGGAATTGTCAGATGG	0.441													10	23	---	---	---	---					
