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
TMEM30A	55754	broad.mit.edu	37	6	75969155	75969155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:75969155G>A	ENST00000230461.6	-	5	922	c.593C>T	c.(592-594)gCt>gTt	p.A198V	TMEM30A_ENST00000370050.5_Missense_Mutation_p.A79V|TMEM30A_ENST00000475111.2_Missense_Mutation_p.A162V	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	198						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTTTTCAAAGCGATAGGTAT	0.343000													21	52					0	0	0.008871	0	0
COL1A1	1277	broad.mit.edu	37	17	48272431	48272431	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:48272431C>G	ENST00000225964.5	-	20	1448	c.1330G>C	c.(1330-1332)Gac>Cac	p.D444H		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	444	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)	GCACCAGTGTCTCCTTTGCTG	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						46	73					0	0	0.014410	0	0
VWF	7450	broad.mit.edu	37	12	6103064	6103064	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:6103064C>G	ENST00000261405.5	-	37	6816	c.6562G>C	c.(6562-6564)Ggg>Cgg	p.G2188R		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2188					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)	ACGCAGACCCCGTTGGTCCGA	0.557000													13	65					0	0	0.020292	0	0
KLF17	128209	broad.mit.edu	37	1	44595857	44595857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:44595857G>A	ENST00000372299.3	+	2	972	c.914G>A	c.(913-915)cGc>cAc	p.R305H	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	305					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					AGCCACCAGCGCAAGCACACA	0.557000													4	138					0	0	0.014758	0	0
SPOCK2	9806	broad.mit.edu	37	10	73822644	73822644	+	Silent	SNP	C	C	T	rs115217058	byFrequency	TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:73822644C>T	ENST00000373109.2	-	11	1593	c.1149G>A	c.(1147-1149)tcG>tcA	p.S383S	SPOCK2_ENST00000317376.4_Silent_p.S383S|SPOCK2_ENST00000536168.1_Silent_p.S383S	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	383					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CAAAGTCCCCCGAGAAGCCCA	0.667000													4	16					0	0	0.014758	0	0
OR10A3	26496	broad.mit.edu	37	11	7960190	7960190	+	Missense_Mutation	SNP	C	C	T	rs146552050		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:7960190C>T	ENST00000360759.3	-	1	951	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCACTGTTTCGTAAGCTATA	0.418000													16	20					0	0	0.006122	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22315338	22315338	+	RNA	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr14:22315338C>T	ENST00000390434.3	+	0	501																											GTGAAACCTCCTTCCACCTGA	0.507000													43	54					0	0	0.010771	0	0
CD300LB	124599	broad.mit.edu	37	17	72522183	72522183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:72522183C>T	ENST00000392621.1	-	2	189	c.185G>A	c.(184-186)aGa>aAa	p.R62K	CD300LB_ENST00000314401.3_Missense_Mutation_p.R62K	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	25	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CTCTGGGGCTCTCACAGACTC	0.572000													44	117					0	0	0.014410	0	0
ZNF683	257101	broad.mit.edu	37	1	26691531	26691531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:26691531G>A	ENST00000436292.1	-	4	626	c.506C>T	c.(505-507)cCc>cTc	p.P169L	ZNF683_ENST00000349618.3_Missense_Mutation_p.P169L|ZNF683_ENST00000403843.1_Missense_Mutation_p.P169L|ZNF683_ENST00000374204.1_Missense_Mutation_p.P169L			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GAAAGCCAAGGGGCTGGGGCT	0.602000													7	21					0	0	0.003080	0	0
CSMD2	114784	broad.mit.edu	37	1	34174706	34174706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:34174706C>T	ENST00000373381.4	-	22	3735	c.3559G>A	c.(3559-3561)Gaa>Aaa	p.E1187K	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.E60K	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1147	CUB 7.					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)				ACATCTCCTTCGGAGAGTTCG	0.428000													35	67					0	0	0.030466	0	0
DDR1	780	broad.mit.edu	37	6	30862335	30862335	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:30862335G>T	ENST00000324771.8	+	13	1948	c.1400G>T	c.(1399-1401)gGg>gTg	p.G467V	DDR1_ENST00000376568.3_Missense_Mutation_p.G467V|DDR1_ENST00000376567.2_Missense_Mutation_p.G467V|DDR1_ENST00000418800.2_Missense_Mutation_p.G467V|DDR1_ENST00000452441.1_Missense_Mutation_p.G467V|DDR1_ENST00000513240.1_Missense_Mutation_p.G467V|DDR1_ENST00000454612.2_Missense_Mutation_p.G467V|DDR1_ENST00000376575.3_Missense_Mutation_p.G467V|DDR1_ENST00000508312.1_Missense_Mutation_p.G485V|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376569.3_Missense_Mutation_p.G467V|DDR1_ENST00000376570.4_Missense_Mutation_p.G467V|DDR1_ENST00000446312.1_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	467					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TCTGTCCCTGGGGACACTATC	0.627000													4	113					3.59834e-05	3.66387e-05	0.021553	1	0
CCPG1	9236	broad.mit.edu	37	15	55652855	55652855	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:55652855C>T	ENST00000310958.6	-	8	1414	c.1116G>A	c.(1114-1116)agG>agA	p.R372R	CCPG1_ENST00000442196.3_Silent_p.R372R|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000569205.1_Silent_p.R372R	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	372					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		ACAGAGTCTCCCTTTGACTAA	0.398000													25	69					0	0	0.018920	0	0
CD101	9398	broad.mit.edu	37	1	117564359	117564359	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:117564359C>T	ENST00000256652.4	+	7	2240	c.2182C>T	c.(2182-2184)Ctg>Ttg	p.L728L	CD101_ENST00000369470.1_Silent_p.L728L	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	728	Ig-like C2-type 6.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCTAAAGATCCTGGAGATGGA	0.393000													12	15					0	0	0.020292	0	0
RRBP1	6238	broad.mit.edu	37	20	17640672	17640672	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:17640672G>A	ENST00000377813.1	-	3	784	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	RRBP1_ENST00000246043.4_Nonsense_Mutation_p.Q161*|RRBP1_ENST00000377807.2_Nonsense_Mutation_p.Q161*|RRBP1_ENST00000360807.4_Nonsense_Mutation_p.Q161*|RRBP1_ENST00000455029.2_Intron			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	161					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GTGAGAACCTGGATGGAATTC	0.562000													12	16					0	0	0.016723	0	0
ATG2A	23130	broad.mit.edu	37	11	64673226	64673226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:64673226G>A	ENST00000421419.2	-	23	3473	c.3359C>T	c.(3358-3360)tCt>tTt	p.S1120F	ATG2A_ENST00000377264.3_Missense_Mutation_p.S1120F			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1120							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ATAGTCCACAGAGCAGGAGAA	0.632000													24	34					0	0	0.021523	0	0
ITGA2	3673	broad.mit.edu	37	5	52360772	52360772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:52360772G>A	ENST00000296585.5	+	14	1776	c.1633G>A	c.(1633-1635)Ggc>Agc	p.G545S		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	545					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATTTCTTGAAGGCCCCGAGGG	0.413000													52	63					0	0	0.014410	0	0
NAPRT1	93100	broad.mit.edu	37	8	144659263	144659263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:144659263G>A	ENST00000449291.2	-	5	947	c.653C>T	c.(652-654)tCc>tTc	p.S218F	NAPRT1_ENST00000426292.3_Missense_Mutation_p.S218F|NAPRT1_ENST00000276844.7_Missense_Mutation_p.S218F|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000435154.3_Missense_Mutation_p.S218F			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	218					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCTGAAAAGGAAGTGACGAA	0.677000													26	37					0	0	0.027356	0	0
OR52I2	143502	broad.mit.edu	37	11	4608746	4608746	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:4608746T>A	ENST00000312614.4	+	1	726	c.704T>A	c.(703-705)cTt>cAt	p.L235H		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTTCCTCTCTTATGGTGGGC	0.483000													74	93					0	0	0.014410	0	0
EPB41L1	2036	broad.mit.edu	37	20	34776268	34776268	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:34776268G>A	ENST00000338074.2	+	9	1034		c.e9-1		EPB41L1_ENST00000441639.1_Splice_Site|EPB41L1_ENST00000202028.5_Splice_Site|EPB41L1_ENST00000373946.3_Splice_Site|EPB41L1_ENST00000373941.1_Splice_Site|EPB41L1_ENST00000373950.2_Splice_Site	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1						cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TTCTCATGCAGGACTCTGAGG	0.592000													41	117					0	0	0.014410	0	0
COL11A1	1301	broad.mit.edu	37	1	103356019	103356019	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:103356019G>A	ENST00000358392.2	-	58	4697	c.4380C>T	c.(4378-4380)tcC>tcT	p.S1460S	COL11A1_ENST00000512756.1_Silent_p.S1332S|COL11A1_ENST00000370096.3_Silent_p.S1448S|COL11A1_ENST00000353414.4_Silent_p.S1409S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1448	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTCACCCTTGGAGCCAGGGT	0.338000													5	10					0	0	0.021553	0	0
LRP1B	53353	broad.mit.edu	37	2	141607771	141607771	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:141607771G>A	ENST00000389484.3	-	29	5810	c.4839C>T	c.(4837-4839)ttC>ttT	p.F1613F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1613					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)		CAGATGCATCGAAGTCTATCA	0.373000										TSP Lung(27;0.18)			12	48					0	0	0.010729	0	0
ALS2CL	259173	broad.mit.edu	37	3	46716164	46716164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:46716164G>A	ENST00000318962.4	-	21	2404	c.2321C>T	c.(2320-2322)aCg>aTg	p.T774M	ALS2CL_ENST00000415953.1_Missense_Mutation_p.T774M|ALS2CL_ENST00000383742.3_Missense_Mutation_p.T121M	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	774					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CAGGTAGAGCGTGAAGAGCTC	0.567000													21	58					0	0	0.008871	0	0
HLA-G	3135	broad.mit.edu	37	6	29795861	29795861	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:29795861C>T	ENST00000428701.1	+	3	289	c.111C>T	c.(109-111)tcC>tcT	p.S37S	HLA-G_ENST00000376815.3_Silent_p.S37S|HLA-G_ENST00000376818.3_Silent_p.S37S|HLA-G_ENST00000360323.6_Silent_p.S37S|HLA-G_ENST00000376828.2_Silent_p.S42S	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	37	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CCGCCGTGTCCCGGCCCGGCC	0.716000													6	19					0	0	0.029380	0	0
CDH10	1008	broad.mit.edu	37	5	24593395	24593395	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:24593395C>T	ENST00000264463.4	-	2	712	c.205G>A	c.(205-207)Gga>Aga	p.G69R	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	69	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAATCAGATCCTGTATATTCT	0.338000										HNSCC(23;0.051)			5	63					0	0	0.029380	0	0
FBN1	2200	broad.mit.edu	37	15	48782180	48782180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:48782180C>T	ENST00000316623.5	-	25	3405	c.2950G>A	c.(2950-2952)Gtc>Atc	p.V984I		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	984	TB 5.		V -> I (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCTGCCCCGACGGAGCAGCAG	0.602000													21	52					0	0	0.012319	0	0
MMP13	4322	broad.mit.edu	37	11	102819836	102819836	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:102819836C>T	ENST00000260302.3	-	7	997	c.969G>A	c.(967-969)acG>acA	p.T323T	MMP13_ENST00000340273.4_Silent_p.T323T	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	323	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		AAAATGATTTCGTTAAAAACA	0.423000													15	31					0	0	0.020292	0	0
ASPM	259266	broad.mit.edu	37	1	197112160	197112160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:197112160G>A	ENST00000367409.4	-	3	1478	c.1222C>T	c.(1222-1224)Cag>Tag	p.Q408*	ASPM_ENST00000294732.7_Nonsense_Mutation_p.Q408*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	408					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CATGTTTGCTGAGATGTACAC	0.338000													22	49					0	0	0.012319	0	0
TRMT5	57570	broad.mit.edu	37	14	61446561	61446561	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr14:61446561G>A	ENST00000261249.6	-	2	439	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	19						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TGGCTTTCCAGTTTCAGAAAT	0.358000													28	32					0	0	0.030593	0	0
GSG1L	146395	broad.mit.edu	37	16	27856321	27856321	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:27856321G>A	ENST00000380898.2	-	4	696	c.147C>T	c.(145-147)ctC>ctT	p.L49L	GSG1L_ENST00000447459.2_Silent_p.L204L|GSG1L_ENST00000395724.3_Silent_p.L153L|GSG1L_ENST00000380897.3_Silent_p.L49L|GSG1L_ENST00000569166.1_Silent_p.L49L			Q6UXU4	GSG1L_HUMAN	GSG1-like	204						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CCTCAGGACCGAGGCTCACGG	0.602000													9	20					0	0	0.004482	0	0
WDR53	348793	broad.mit.edu	37	3	196281221	196281221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:196281221C>T	ENST00000332629.5	-	4	1505	c.938G>A	c.(937-939)gGc>gAc	p.G313D	WDR53_ENST00000433160.1_Missense_Mutation_p.G154D|WDR53_ENST00000429115.1_Missense_Mutation_p.G152D	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	313										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TAAAATGTTGCCATGTTCTTC	0.393000													33	80					0	0	0.019004	0	0
DNAH10	196385	broad.mit.edu	37	12	124330546	124330546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:124330546G>A	ENST00000409039.3	+	31	5330	c.5305G>A	c.(5305-5307)Gaa>Aaa	p.E1769K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1769	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)		GTTTGACTGGGAAAGTCAGTT	0.557000													41	121					0	0	0.011902	0	0
SCAND3	114821	broad.mit.edu	37	6	28542450	28542450	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:28542450G>A	ENST00000452236.2	-	3	2649	c.2032C>T	c.(2032-2034)Cca>Tca	p.P678S		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	678					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GGTGAAAATGGTGTCCCTGAT	0.403000													47	110					0	0	0.014410	0	0
ITGA11	22801	broad.mit.edu	37	15	68631854	68631854	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:68631854G>A	ENST00000423218.2	-	11	1355	c.1260C>T	c.(1258-1260)aaC>aaT	p.N420N	ITGA11_ENST00000315757.7_Silent_p.N420N			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	420					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ATGCACCATGGTTCTTGAGCT	0.622000													9	18					0	0	0.004482	0	0
HEATR1	55127	broad.mit.edu	37	1	236734652	236734652	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:236734652G>A	ENST00000366582.3	-	28	4061	c.3948_splice	c.e28+1	p.P1316_splice	HEATR1_ENST00000366581.2_Splice_Site_p.P1235_splice	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1316					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACGCTTACCGGAAATATTCC	0.403000													9	20					0	0	0.006214	0	0
DCAF11	80344	broad.mit.edu	37	14	24586912	24586912	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr14:24586912C>T	ENST00000446197.3	+	5	1174	c.447C>T	c.(445-447)tcC>tcT	p.S149S	DCAF11_ENST00000559115.1_Silent_p.S149S|DCAF11_ENST00000560171.1_Intron|DCAF11_ENST00000396941.4_Silent_p.S123S|DCAF11_ENST00000396936.1_Intron	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	149						CUL4 RING ubiquitin ligase complex	protein binding	p.S149S(1)									GAAGCTTCTCCCTTGGAGAAC	0.498000													42	64					0	0	0.011902	0	0
RIOK1	83732	broad.mit.edu	37	6	7403078	7403078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:7403078C>T	ENST00000379834.2	+	8	1222	c.715C>T	c.(715-717)Cct>Tct	p.P239S		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	239	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					TAAAGGAAACCCTAGGAAAAT	0.323000													8	20					0	0	0.004482	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603144	111603144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:111603144C>T	ENST00000431670.2	+	2	631	c.220C>T	c.(220-222)Cct>Tct	p.P74S	PHLDB2_ENST00000481953.1_Missense_Mutation_p.P74S|PHLDB2_ENST00000393923.3_Missense_Mutation_p.P101S|PHLDB2_ENST00000477695.1_Missense_Mutation_p.P74S|PHLDB2_ENST00000412622.1_Missense_Mutation_p.P74S|PHLDB2_ENST00000393925.3_Missense_Mutation_p.P74S|PHLDB2_ENST00000478922.1_Missense_Mutation_p.P74S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	74						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAGCCCTTCTCCTTTGGGAAC	0.443000													69	154					0	0	0.014410	0	0
SPECC1	92521	broad.mit.edu	37	17	20013850	20013850	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:20013850G>A	ENST00000395529.3	+	3	310	c.258G>A	c.(256-258)acG>acA	p.T86T	SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395527.4_Silent_p.T86T|SPECC1_ENST00000261503.5_Silent_p.T86T	NM_152904.4	NP_690868.3	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	86						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CGGAGCTCACGGAGAGCCGCC	0.652000													11	16					0	0	0.010729	0	0
FCRL1	115350	broad.mit.edu	37	1	157771850	157771850	+	Silent	SNP	G	G	A	rs143378896		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:157771850G>A	ENST00000358292.3	-	5	792	c.741C>T	c.(739-741)atC>atT	p.I247I	FCRL1_ENST00000491942.1_Silent_p.I247I|FCRL1_ENST00000368176.3_Silent_p.I247I|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	247	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity	p.I247I(3)		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)			TCCCCAGGGTGATATCCTCGT	0.577000													21	54					0	0	0.010504	0	0
MYH4	4622	broad.mit.edu	37	17	10366440	10366440	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:10366440G>A	ENST00000255381.2	-	10	981	c.871C>T	c.(871-873)Caa>Taa	p.Q291*	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	291	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	p.Q291E(1)		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						GACAGGATTTGATAAAATATG	0.373000													15	19					0	0	0.007413	0	0
HCN1	348980	broad.mit.edu	37	5	45262146	45262146	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:45262146G>A	ENST00000303230.4	-	8	2607	c.2550C>T	c.(2548-2550)atC>atT	p.I850I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	850						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						GGTTCGGGGGGATGGCTCCCG	0.637000													16	84					0	0	0.028581	0	0
CYP21A2	1589	broad.mit.edu	37	6	32008225	32008225	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:32008225C>T	ENST00000418967.2	+	8	1140	c.982C>T	c.(982-984)Cct>Tct	p.P328S	CYP21A2_ENST00000435122.2_Missense_Mutation_p.P298S	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	327					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						CGAACTGGGCCCTGGTGCCTC	0.677000													66	249					0	0	0.014410	0	0
ASNS	440	broad.mit.edu	37	7	97482507	97482507	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:97482507G>A	ENST00000175506.4	-	13	1869	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	ASNS_ENST00000437628.1_Silent_p.L364L|ASNS_ENST00000394308.3_Silent_p.L447L|ASNS_ENST00000455086.1_Silent_p.L364L|ASNS_ENST00000394309.3_Silent_p.L447L|ASNS_ENST00000422745.1_Silent_p.L426L|ASNS_ENST00000444334.1_Silent_p.L426L	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	447	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCTCTCTCAGGAGATGTTTTT	0.383000													23	14					0	0	0.018920	0	0
TSC2	7249	broad.mit.edu	37	16	2134315	2134315	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:2134315C>T	ENST00000219476.3	+	34	4722	c.4092C>T	c.(4090-4092)tcC>tcT	p.S1364S	TSC2_ENST00000353929.4_Silent_p.S1321S|TSC2_ENST00000382538.6_Silent_p.S1249S|TSC2_ENST00000401874.2_Silent_p.S1297S|TSC2_ENST00000568454.1_Silent_p.S1308S|TSC2_ENST00000439673.2_Silent_p.S1261S|TSC2_ENST00000350773.4_Silent_p.S1341S	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1364					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GAGTCGTCTCCTCGGAGGGTG	0.647000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				13	34					0	0	0.028581	0	0
RECQL5	9400	broad.mit.edu	37	17	73627090	73627090	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:73627090C>T	ENST00000317905.5	-	11	1708	c.1548_splice	c.e11-1	p.G517_splice	RECQL5_ENST00000423245.2_Splice_Site_p.G490_splice|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	517					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGGTCTTTGCCCTGGAGGACA	0.592000								Other identified genes with known or suspected DNA repair function					14	39					0	0	0.024245	0	0
SNHG14	104472715	broad.mit.edu	37	15	25417710	25417710	+	RNA	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:25417710C>T	ENST00000549301.1	+	0	488				SNHG14_ENST00000553149.1_RNA																							ACTCTGGTCTCCTGCACTGAG	0.607000													13	34					0	0	0.016723	0	0
KCNQ3	3786	broad.mit.edu	37	8	133142162	133142162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:133142162C>T	ENST00000388996.4	-	15	2386	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	KCNQ3_ENST00000521134.1_Missense_Mutation_p.E536K|KCNQ3_ENST00000519445.1_Missense_Mutation_p.E644K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	656					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E656K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGGTAATACTCCGTGACCTGC	0.498000													81	74					0	0	0.014410	0	0
CCR4	1233	broad.mit.edu	37	3	32995307	32995307	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:32995307G>A	ENST00000330953.5	+	2	561	c.393G>A	c.(391-393)atG>atA	p.M131I		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	131					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TCATGCTCATGAGCATTGATA	0.483000													69	199					0	0	0.014410	0	0
ZNF438	220929	broad.mit.edu	37	10	31139069	31139069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:31139069C>T	ENST00000538351.1	-	7	872	c.118G>A	c.(118-120)Gag>Aag	p.E40K	ZNF438_ENST00000442986.1_Missense_Mutation_p.E89K|ZNF438_ENST00000452305.1_Missense_Mutation_p.E79K|ZNF438_ENST00000361310.3_Missense_Mutation_p.E89K|ZNF438_ENST00000436087.2_Missense_Mutation_p.E89K|ZNF438_ENST00000444692.2_Missense_Mutation_p.E79K|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000331737.6_Missense_Mutation_p.E79K|ZNF438_ENST00000413025.1_Missense_Mutation_p.E89K	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	89					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)				AATGTCCCCTCCTGGCCAGCA	0.522000													43	51					0	0	0.033182	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42375956	42375956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:42375956C>T	ENST00000290472.3	-	7	587	c.493G>A	c.(493-495)Gat>Aat	p.D165N		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	165					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGATGCACATCCAGGCATGAC	0.607000													50	121					0	0	0.014410	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136287656	136287656	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:136287656C>T	ENST00000371929.3	+	1	537	c.93C>T	c.(91-93)tcC>tcT	p.S31S	ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371911.3_Silent_p.S31S|ADAMTS13_ENST00000371916.1_Silent_p.S31S|ADAMTS13_ENST00000356589.2_Silent_p.S31S|ADAMTS13_ENST00000355699.2_Silent_p.S31S	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	31					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGGGACCCTCCCATTTCCAGC	0.632000													41	25					0	0	0.036044	0	0
DGKI	9162	broad.mit.edu	37	7	137282635	137282635	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:137282635T>A	ENST00000453654.1	-	12	908	c.369A>T	c.(367-369)aaA>aaT	p.K123N	DGKI_ENST00000446122.1_Missense_Mutation_p.K423N|DGKI_ENST00000424189.2_Missense_Mutation_p.K423N|DGKI_ENST00000288490.5_Missense_Mutation_p.K423N			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	423					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GATTTGGTACTTTCCTATACA	0.418000													7	38					0	0	0.029380	0	0
ZNF462	58499	broad.mit.edu	37	9	109688243	109688243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:109688243C>T	ENST00000277225.5	+	3	2339	c.2050C>T	c.(2050-2052)Cct>Tct	p.P684S	ZNF462_ENST00000457913.1_Missense_Mutation_p.P684S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	684					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAATGACTTTCCTCTAGATTT	0.438000													78	152					0	0	0.014410	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6087147	6087147	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:6087147C>T	ENST00000409021.3	-	4	1283	c.834_splice	c.e4+1	p.Q278_splice	JAKMIP1_ENST00000409371.3_Splice_Site_p.Q113_splice|JAKMIP1_ENST00000282924.5_Splice_Site_p.Q278_splice|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000410077.2_Splice_Site_p.Q113_splice|JAKMIP1_ENST00000409831.1_Splice_Site_p.Q278_splice	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	278	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCCCCTCACCTGGACGCCCA	0.612000													9	10					0	0	0.006214	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41447447	41447447	+	RNA	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:41447447G>A	ENST00000599198.1	+	0	876					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						gaagagggagggaaaaggggt	0.517000													8	13					0	0	0.003080	0	0
PIK3CB	5291	broad.mit.edu	37	3	138417774	138417774	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:138417774C>T	ENST00000477593.1	-	12	1818	c.1745G>A	c.(1744-1746)tGg>tAg	p.W582*	PIK3CB_ENST00000289153.2_Nonsense_Mutation_p.W582*|PIK3CB_ENST00000544716.1_Nonsense_Mutation_p.W28*			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	582	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AAGTTTATTCCACTTGATTGA	0.373000													110	302					0	0	0.014410	0	0
IKBIP	121457	broad.mit.edu	37	12	99028092	99028092	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:99028092G>A	ENST00000299157.4	-	2	652	c.279C>T	c.(277-279)atC>atT	p.I93I	IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Silent_p.I93I	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	93					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						AAATTAAACTGATTTTACTTT	0.353000													7	24					0	0	0.003080	0	0
ENPP1	5167	broad.mit.edu	37	6	132201098	132201098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:132201098C>T	ENST00000360971.2	+	20	2044	c.2024C>T	c.(2023-2025)tCc>tTc	p.S675F		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	675	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TGTCTTCTTTCCCAGCACCAG	0.413000													30	59					0	0	0.009535	0	0
CHSY1	22856	broad.mit.edu	37	15	101719038	101719038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:101719038G>A	ENST00000254190.3	-	3	1439	c.964C>T	c.(964-966)Cgc>Tgc	p.R322C	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	322					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GATATCTTGCGGCTCAGCATG	0.468000													23	37					0	0	0.021523	0	0
TPTE	7179	broad.mit.edu	37	21	10914408	10914408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr21:10914408C>T	ENST00000298232.7	-	20	1624	c.1257G>A	c.(1255-1257)atG>atA	p.M419I	TPTE_ENST00000361285.4_Missense_Mutation_p.M437I|TPTE_ENST00000342420.5_Missense_Mutation_p.M399I|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	437	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.M419I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTTTTTCTCCATTTCTATTT	0.318000													4	48					0	0	0.009096	0	0
ZNF780B	163131	broad.mit.edu	37	19	40542123	40542123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:40542123G>A	ENST00000434248.1	-	5	708	c.643C>T	c.(643-645)Cat>Tat	p.H215Y	ZNF780B_ENST00000221355.6_Missense_Mutation_p.H67Y	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCACCAGTATGAAATTTCTGA	0.373000													11	39					0	0	0.013537	0	0
NRG2	9542	broad.mit.edu	37	5	139251407	139251407	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:139251407G>A	ENST00000394770.1	-	4	1235	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S	NRG2_ENST00000289409.4_Silent_p.S337S|NRG2_ENST00000361474.1_Silent_p.S337S|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000340391.3_Silent_p.S134S|NRG2_ENST00000545385.1_Silent_p.S337S|NRG2_ENST00000289422.7_Silent_p.S337S|NRG2_ENST00000358522.3_Silent_p.S337S			O14511	NRG2_HUMAN	neuregulin 2	337	Ser/Thr-rich.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCCGACCAGGATGACAGGG	0.577000													19	39					0	0	0.007413	0	0
AMBRA1	55626	broad.mit.edu	37	11	46465038	46465038	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:46465038C>T	ENST00000458649.2	-	12	3050	c.2632_splice	c.e12+1	p.A878_splice	AMBRA1_ENST00000314845.3_Splice_Site_p.A788_splice|AMBRA1_ENST00000298834.3_Splice_Site_p.A818_splice|AMBRA1_ENST00000426438.1_Splice_Site_p.A849_splice|AMBRA1_ENST00000534300.1_Splice_Site_p.A818_splice|AMBRA1_ENST00000533727.1_Splice_Site_p.A759_splice|AMBRA1_ENST00000528950.1_Splice_Site_p.A849_splice			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	878					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ATTGACTTACCATTACTGATT	0.458000													6	15					0	0	0.003080	0	0
CACNA1E	777	broad.mit.edu	37	1	181714493	181714493	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:181714493G>A	ENST00000357570.5	+	26	3894	c.3582G>A	c.(3580-3582)atG>atA	p.M1194I	CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000358338.5_Missense_Mutation_p.M1175I|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000367573.2_Intron|CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000360108.3_Intron			Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1243					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						ttaacagcatgaaattgggag	0.428000													11	51					0	0	0.013537	0	0
TNXB	7148	broad.mit.edu	37	6	32049920	32049920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:32049920C>T	ENST00000375244.3	-	9	3830	c.3629G>A	c.(3628-3630)cGt>cAt	p.R1210H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1210H			P22105	TENX_HUMAN	tenascin XB	1297	Fibronectin type-III 4.				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						AACAAATGAACGCTCGGGCCC	0.577000													8	503					0	0	0.003080	0	0
NOS1AP	9722	broad.mit.edu	37	1	162325096	162325096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:162325096G>A	ENST00000361897.5	+	7	1117	c.715G>A	c.(715-717)Gat>Aat	p.D239N	NOS1AP_ENST00000530878.1_Missense_Mutation_p.D234N	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	239					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGGTGTGACTGATCTAGATGC	0.577000													27	91					0	0	0.009535	0	0
TTN	7273	broad.mit.edu	37	2	179404146	179404146	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:179404146C>T	ENST00000589042.1	-	352	98870	c.98646G>A	c.(98644-98646)ttG>ttA	p.L32882L	TTN_ENST00000591111.1_Silent_p.L31241L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.L23942L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.L24009L|TTN_ENST00000460472.2_Silent_p.L23817L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.L30314L|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31241							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)			CCTCAGATTTCAAGGGTTTGC	0.388000													22	26					0	0	0.014323	0	0
TET2	54790	broad.mit.edu	37	4	106158380	106158380	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:106158380A>T	ENST00000540549.1	+	3	4141	c.3281A>T	c.(3280-3282)aAa>aTa	p.K1094I	TET2_ENST00000394764.1_Missense_Mutation_p.K1094I|TET2_ENST00000413648.2_Missense_Mutation_p.K1094I|TET2_ENST00000305737.2_Missense_Mutation_p.K1094I|TET2_ENST00000545826.1_Missense_Mutation_p.K1094I|TET2_ENST00000380013.4_Missense_Mutation_p.K1094I|TET2_ENST00000513237.1_Missense_Mutation_p.K1115I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1094					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.T1093fs*12(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACACCAACCAAAAGAACAGCT	0.388000			"""Mis N, F"""		MDS								20	23					0	0	0.008871	0	0
LRP1	4035	broad.mit.edu	37	12	57577163	57577163	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:57577163C>T	ENST00000243077.3	+	35	6130	c.5662_splice	c.e35-1	p.G1888_splice		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1888					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTCTTTCAGGCGTAGGTTCCT	0.507000											OREG0021938	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	64					0	0	0.030593	0	0
SAMSN1	64092	broad.mit.edu	37	21	15873018	15873018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr21:15873018C>T	ENST00000285670.2	-	7	978	c.804G>A	c.(802-804)atG>atA	p.M268I	SAMSN1_ENST00000400564.1_Missense_Mutation_p.M32I|SAMSN1_ENST00000400566.1_Missense_Mutation_p.M200I	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	200	SAM.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCCACATCCCCATTGGTGTTT	0.378000													25	76					0	0	0.021523	0	0
ZHX2	22882	broad.mit.edu	37	8	123963790	123963790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:123963790C>T	ENST00000314393.4	+	3	875	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	14						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			ATGCATGGTTCGGACATCACA	0.512000													13	32					0	0	0.013537	0	0
INVS	27130	broad.mit.edu	37	9	103035345	103035345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:103035345G>A	ENST00000262457.2	+	12	1956	c.1771G>A	c.(1771-1773)Gat>Aat	p.D591N	INVS_ENST00000262456.2_Missense_Mutation_p.D591N|INVS_ENST00000541287.1_Missense_Mutation_p.D495N	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	591					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	p.D591F(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GTTGAGAAAAGATGCTGCTGC	0.522000													28	75					0	0	0.024334	0	0
PSMC3	5702	broad.mit.edu	37	11	47446034	47446034	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:47446034G>A	ENST00000298852.3	-	5	556	c.399C>T	c.(397-399)ttC>ttT	p.F133F	PSMC3_ENST00000602866.1_Silent_p.F117F|PSMC3_ENST00000530912.1_Silent_p.F91F	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	133					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|interspecies interaction between organisms|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|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCACAGGAAGGAAGTACGTCT	0.567000													14	13					0	0	0.020292	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856147	62856147	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:62856147G>A	ENST00000584306.1	-	11	4647	c.4117C>T	c.(4117-4119)Ctg>Ttg	p.L1373L	LRRC37A3_ENST00000400877.3_Silent_p.L411L|LRRC37A3_ENST00000339474.5_Silent_p.L491L|LRRC37A3_ENST00000334962.5_Silent_p.L350L|LRRC37A3_ENST00000319651.5_Silent_p.L1373L	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1373						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GATACTTCCAGAAAAGGATTT	0.383000													29	56					0	0	0.027356	0	0
KIAA1045	23349	broad.mit.edu	37	9	34976626	34976626	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:34976626G>C	ENST00000242315.3	+	5	820	c.738G>C	c.(736-738)gaG>gaC	p.E246D	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.E246D	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	246							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGCAAGAAGAGCAGGCGGCCC	0.612000													6	57					0	0	0.021553	0	0
INPP5A	3632	broad.mit.edu	37	10	134595410	134595410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:134595410C>T	ENST00000368594.3	+	15	1481	c.1204C>T	c.(1204-1206)Cat>Tat	p.H402Y		NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	402					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AGGTAAACCTCATGCCCATGT	0.577000													25	63					0	0	0.024334	0	0
OR5K3	403277	broad.mit.edu	37	3	98110431	98110431	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:98110431T>A	ENST00000383695.1	+	1	922	c.922T>A	c.(922-924)Ttt>Att	p.F308I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						GAAGAGAAAATTTTGTCACAT	0.269000													18	34					0	0	0.012319	0	0
TRBV30	28557	broad.mit.edu	37	7	142510988	142510988	+	RNA	SNP	T	T	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:142510988T>A	ENST00000417977.2	-	0	96																											AAGCCAGCCTTTCCTTCAGCT	0.577000													5	9					0	0	0.021553	0	0
TPO	7173	broad.mit.edu	37	2	1437227	1437227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:1437227G>A	ENST00000345913.4	+	4	288	c.197G>A	c.(196-198)gGa>gAa	p.G66E	TPO_ENST00000382269.3_Missense_Mutation_p.G66E|TPO_ENST00000382201.3_Missense_Mutation_p.G66E|TPO_ENST00000539820.1_Missense_Mutation_p.G66E|TPO_ENST00000346956.3_Missense_Mutation_p.G66E|TPO_ENST00000337415.3_Missense_Mutation_p.G66E|TPO_ENST00000349624.3_Missense_Mutation_p.G66E|TPO_ENST00000329066.4_Missense_Mutation_p.G66E|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.G66E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	66					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)	AAGAAAAGAGGAATCCTTTCT	0.363000													14	28					0	0	0.028581	0	0
RAG2	5897	broad.mit.edu	37	11	36614751	36614751	+	Missense_Mutation	SNP	C	C	T	rs139419162		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:36614751C>T	ENST00000311485.3	-	2	1129	c.968G>A	c.(967-969)gGa>gAa	p.G323E		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	323					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	p.G323E(2)		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)				AGTTCCATTTCCCATGTTGCT	0.383000									Familial Hemophagocytic Lymphohistiocytosis				50	75					0	0	0.014410	0	0
LAMA3	3909	broad.mit.edu	37	18	21404449	21404449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr18:21404449C>T	ENST00000313654.9	+	21	2732	c.2491C>T	c.(2491-2493)Cct>Tct	p.P831S	LAMA3_ENST00000399516.3_Missense_Mutation_p.P831S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	831	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTCACTGTCCCTGGAAATGG	0.433000													32	95					0	0	0.012213	0	0
TNRC6C	57690	broad.mit.edu	37	17	76083169	76083169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:76083169C>T	ENST00000335749.4	+	13	4357	c.3788C>T	c.(3787-3789)cCt>cTt	p.P1263L	TNRC6C_ENST00000301624.4_Missense_Mutation_p.P1266L|TNRC6C_ENST00000588061.1_Missense_Mutation_p.P1266L|TNRC6C_ENST00000544502.1_Missense_Mutation_p.P1263L|TNRC6C_ENST00000588847.1_Missense_Mutation_p.P1263L|TNRC6C_ENST00000541771.1_Missense_Mutation_p.P1266L	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1266					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCTCCTTACCCTCTCGGTGAG	0.577000													49	104					0	0	0.014410	0	0
RHOH	399	broad.mit.edu	37	4	40245490	40245490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:40245490G>A	ENST00000381799.4	+	3	1208	c.484G>A	c.(484-486)Gtg>Atg	p.V162M	RHOH_ENST00000505618.1_Missense_Mutation_p.V162M	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	162					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						AGTACAGCAGGTGTTTGAGTG	0.557000													11	13					0	0	0.013537	0	0
CALCB	797	broad.mit.edu	37	11	15098931	15098931	+	Silent	SNP	C	C	T	rs145827382	byFrequency	TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:15098931C>T	ENST00000523376.1	+	9	1619	c.357C>T	c.(355-357)ttC>ttT	p.F119F	CALCB_ENST00000533448.1_Silent_p.F108F|CALCB_ENST00000324229.6_Silent_p.F108F			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	108					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity	p.F108F(1)		endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						AGAGCAACTTCGTGCCCACCA	0.577000													13	29					0	0	0.016723	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047722	46047722	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr21:46047722C>T	ENST00000397911.3	+	1	683	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	212	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GTGCTGCCAGCAGTCTGGCTG	0.637000													96	205					0	0	0.014410	0	0
CCNB3	85417	broad.mit.edu	37	X	50053615	50053615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:50053615C>T	ENST00000376042.1	+	6	2744	c.2446C>T	c.(2446-2448)Ctc>Ttc	p.L816F	CCNB3_ENST00000276014.7_Missense_Mutation_p.L816F|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	816					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GGAAGCTGTCCTCAAGGAGCC	0.567000													19	7					0	0	0.014323	0	0
ACSF2	80221	broad.mit.edu	37	17	48538069	48538069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:48538069C>T	ENST00000427954.2	+	3	278	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	ACSF2_ENST00000502667.1_Missense_Mutation_p.P54S|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000504392.1_Missense_Mutation_p.P54S|ACSF2_ENST00000300441.4_Missense_Mutation_p.P54S			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	54					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGTCTCCACGCCCATCGGAGG	0.577000													5	21					0	0	0.003080	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626671	140626671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:140626671G>A	ENST00000231173.3	+	1	1525	c.1525G>A	c.(1525-1527)Gac>Aac	p.D509N		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		509	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTAACACGGACAACGGCCA	0.677000													24	71					0	0	0.016522	0	0
ARL9	132946	broad.mit.edu	37	4	57389959	57389959	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:57389959C>T	ENST00000360096.2	+	4	603	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L		NM_206919.1	NP_996802.1	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	161							GTP binding			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					TGGAACCTACCTGACTAAGAA	0.468000													14	19					0	0	0.016723	0	0
SERPINI2	5276	broad.mit.edu	37	3	167184856	167184856	+	Silent	SNP	T	T	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:167184856T>C	ENST00000476257.1	-	4	763	c.465A>G	c.(463-465)gaA>gaG	p.E155E	SERPINI2_ENST00000471111.1_Silent_p.E155E|SERPINI2_ENST00000461846.1_Silent_p.E155E|SERPINI2_ENST00000264677.4_Silent_p.E155E			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	155					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						CTGTTTTTCTTTCTACCCAGG	0.323000													9	47					0	0	0.004482	0	0
APBA1	320	broad.mit.edu	37	9	72067160	72067160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:72067160G>A	ENST00000265381.4	-	9	2068	c.1846C>T	c.(1846-1848)Ctc>Ttc	p.L616F		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	616	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TTGGCCCTGAGGAATTCCTGG	0.527000													26	72					0	0	0.024334	0	0
STON1	11037	broad.mit.edu	37	2	48809496	48809496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:48809496C>T	ENST00000309835.3	+	1	1734	c.1724C>T	c.(1723-1725)cCa>cTa	p.P575L	STON1_ENST00000406226.1_Missense_Mutation_p.P575L|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P575L|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P575L|STON1_ENST00000404752.1_Missense_Mutation_p.P575L|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P575L|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P575L|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P575L					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTCCTGTCCCATCGCAGTGG	0.493000													36	99					0	0	0.017118	0	0
ADCY1	107	broad.mit.edu	37	7	45725676	45725676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:45725676C>T	ENST00000297323.7	+	13	2211	c.2189C>T	c.(2188-2190)gCc>gTc	p.A730V		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	730					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)	ACACACCATGCCCTGCTCTGC	0.632000													15	53					0	0	0.020292	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178554984	178554984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:178554984G>A	ENST00000251582.7	-	17	2694	c.2593C>T	c.(2593-2595)Ccg>Tcg	p.P865S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	865	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TTGGAGCACGGAGACCACTTC	0.582000													28	67					0	0	0.009535	0	0
TOX2	84969	broad.mit.edu	37	20	42694499	42694499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:42694499C>T	ENST00000358131.5	+	6	1262	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S	TOX2_ENST00000435864.2_Missense_Mutation_p.P248S|TOX2_ENST00000372999.1_Missense_Mutation_p.P328S|TOX2_ENST00000423191.1_Missense_Mutation_p.P328S|TOX2_ENST00000341197.3_Missense_Mutation_p.P370S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGGGGCCTCCCCTGCCAGCCT	0.697000													21	69					0	0	0.012319	0	0
USP31	57478	broad.mit.edu	37	16	23079464	23079464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:23079464G>A	ENST00000219689.7	-	16	3961	c.3962C>T	c.(3961-3963)cCc>cTc	p.P1321L	USP31_ENST00000567975.1_Missense_Mutation_p.P614L	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1321					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CGGAGACGAGGGAACTCCAGA	0.507000													34	88					0	0	0.021022	0	0
PTTG2	10744	broad.mit.edu	37	4	37962316	37962316	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:37962316C>T	ENST00000504686.1	+	1	261	c.261C>T	c.(259-261)agC>agT	p.S87S	TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000261439.4_Intron	NM_006607.2	NP_006598.2	Q9NZH5	PTTG2_HUMAN	pituitary tumor-transforming 2	87					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						AACAGCCAAGCTTTTCTGCCA	0.418000													19	36					0	0	0.007413	0	0
TAOK1	57551	broad.mit.edu	37	17	27802791	27802791	+	Splice_Site	SNP	T	T	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:27802791T>C	ENST00000261716.3	+	4	825		c.e4+2		TAOK1_ENST00000536202.1_Splice_Site	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1						mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			ACAGCATGGGTTGGTATTTGT	0.338000													6	26					0	0	0.021553	0	0
CELF1	10658	broad.mit.edu	37	11	47498455	47498455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:47498455C>T	ENST00000395290.2	-	9	952	c.943G>A	c.(943-945)Gga>Aga	p.G315R	CELF1_ENST00000395292.2_Missense_Mutation_p.G313R|CELF1_ENST00000361904.3_Missense_Mutation_p.G313R|CELF1_ENST00000310513.5_Missense_Mutation_p.G312R|CELF1_ENST00000358597.3_Missense_Mutation_p.G316R|CELF1_ENST00000531165.1_Missense_Mutation_p.G344R|CELF1_ENST00000532048.1_Missense_Mutation_p.G342R	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	316					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						TGCAGGGCTCCAAGTGAGGCT	0.502000													28	52					0	0	0.009535	0	0
AMFR	267	broad.mit.edu	37	16	56397837	56397837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:56397837G>A	ENST00000290649.5	-	13	1990	c.1780C>T	c.(1780-1782)Cgc>Tgc	p.R594C		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	594					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						ACTCACTTGCGAGCTTGCTGG	0.542000													17	22					0	0	0.014323	0	0
OR6C65	403282	broad.mit.edu	37	12	55795184	55795184	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:55795184G>A	ENST00000379665.2	+	1	971	c.872G>A	c.(871-873)aGa>aAa	p.R291K		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R291K(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TATACCTTAAGAAACCAGCAG	0.358000													12	36					0	0	0.020292	0	0
PIK3R5	23533	broad.mit.edu	37	17	8784242	8784242	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:8784242C>T	ENST00000447110.1	-	18	2599	c.2475G>A	c.(2473-2475)aaG>aaA	p.K825K	PIK3R5_ENST00000584803.1_Silent_p.K824K|PIK3R5_ENST00000581552.1_Silent_p.K825K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	825					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TCTGCAGGATCTTTCTCTCAT	0.567000													22	49					0	0	0.012319	0	0
ZNF492	57615	broad.mit.edu	37	19	22847002	22847002	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:22847002C>T	ENST00000456783.2	+	4	775	c.531C>T	c.(529-531)gcC>gcT	p.A177A		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GTGGGAAAGCCTATAATGAGA	0.373000													3	14					0	0	0.004672	0	0
VAC14	55697	broad.mit.edu	37	16	70778390	70778390	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:70778390G>A	ENST00000261776.5	-	13	1724	c.1464C>T	c.(1462-1464)ctC>ctT	p.L488L		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	488					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GGCTGGCCTGGAGGTCAGGGC	0.647000													26	56					0	0	0.030593	0	0
SLC13A3	64849	broad.mit.edu	37	20	45239169	45239169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:45239169G>A	ENST00000279027.4	-	3	475	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	SLC13A3_ENST00000413164.2_Missense_Mutation_p.P153S|SLC13A3_ENST00000372121.1_Missense_Mutation_p.P153S|SLC13A3_ENST00000396360.1_Missense_Mutation_p.P106S|SLC13A3_ENST00000290317.5_Missense_Mutation_p.P106S|SLC13A3_ENST00000472148.1_Missense_Mutation_p.P106S|SLC13A3_ENST00000417157.2_Missense_Mutation_p.P106S|SLC13A3_ENST00000495082.1_Missense_Mutation_p.P106S|SLC13A3_ENST00000339636.3_Missense_Mutation_p.P153S|SLC13A3_ENST00000435032.1_5'UTR	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	153						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TTGGCAATGGGAAGCATCATG	0.547000													64	136					0	0	0.014410	0	0
C8B	732	broad.mit.edu	37	1	57417821	57417821	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:57417821G>A	ENST00000543257.1	-	6	976	c.410C>T	c.(409-411)cCa>cTa	p.P137L	C8B_ENST00000371237.4_Missense_Mutation_p.P189L|C8B_ENST00000535057.1_Missense_Mutation_p.P127L	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	189	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ATCAAGAACTGGGCCCTCAAA	0.468000													42	106					0	0	0.014410	0	0
TMEM131	23505	broad.mit.edu	37	2	98373814	98373814	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:98373814G>A	ENST00000186436.5	-	41	5628	c.5400C>T	c.(5398-5400)tcC>tcT	p.S1800S		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1800	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ATGGAGTGGTGGACCACAGGC	0.597000													21	80					0	0	0.014323	0	0
LARP1	23367	broad.mit.edu	37	5	154173503	154173503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:154173503C>T	ENST00000336314.4	+	6	805	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	338							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGCTTCCTTCCGTGGCCGTGG	0.682000													5	57					0	0	0.014758	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911305	230911305	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:230911305C>T	ENST00000295190.4	-	4	995	c.537G>A	c.(535-537)ctG>ctA	p.L179L		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	179						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ACAGGTACTTCAGCAGCACAG	0.587000													40	43					0	0	0.011902	0	0
DCN	1634	broad.mit.edu	37	12	91558410	91558410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:91558410C>T	ENST00000052754.5	-	3	797	c.296G>A	c.(295-297)gGa>gAa	p.G99E	DCN_ENST00000441303.2_Missense_Mutation_p.G99E|DCN_ENST00000547568.2_Intron|DCN_ENST00000303320.3_Missense_Mutation_p.G99E|DCN_ENST00000456569.2_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.G99E|DCN_ENST00000228329.5_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.G99E|DCN_ENST00000420120.2_Intron|DCN_ENST00000425043.1_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	99					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						CTTAAAGTCTCCATCTTTGAT	0.363000													14	27					0	0	0.020292	0	0
INPP1	3628	broad.mit.edu	37	2	191235953	191235953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:191235953C>T	ENST00000392329.2	+	7	1725	c.1025C>T	c.(1024-1026)cCa>cTa	p.P342L	INPP1_ENST00000322522.4_Missense_Mutation_p.P342L|INPP1_ENST00000541441.1_Missense_Mutation_p.P342L	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	342					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	GAAAGAAATCCAGAAACAGGG	0.498000													4	68					0	0	0.009096	0	0
TTC17	55761	broad.mit.edu	37	11	43513659	43513659	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:43513659C>T	ENST00000039989.4	+	23	3254	c.3240C>T	c.(3238-3240)atC>atT	p.I1080I		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1080							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAGTAGAGATCGCACCACACT	0.522000													46	63					0	0	0.011902	0	0
TAOK2	9344	broad.mit.edu	37	16	29998830	29998830	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:29998830G>A	ENST00000308893.4	+	16	4280	c.3237G>A	c.(3235-3237)cgG>cgA	p.R1079R	TAOK2_ENST00000416441.2_Silent_p.R906R|TAOK2_ENST00000543033.1_Silent_p.R966R|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1079					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						GGGTGCGCCGGGGCATATCTC	0.692000													37	71					0	0	0.017118	0	0
ZIK1	284307	broad.mit.edu	37	19	58101701	58101701	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:58101701G>A	ENST00000597850.1	+	4	737	c.522G>A	c.(520-522)aaG>aaA	p.K174K	ZIK1_ENST00000599456.1_Silent_p.K119K|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Silent_p.K161K	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGGTTGGAAAGGACCTTCCAG	0.498000													20	60					0	0	0.008871	0	0
NRG3	10718	broad.mit.edu	37	10	83635601	83635601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:83635601C>T	ENST00000404547.1	+	1	505	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S	NRG3_ENST00000372141.2_Missense_Mutation_p.P169S			P56975	NRG3_HUMAN	neuregulin 3	169	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CACTCGCTTCCCCGGGCACCG	0.746000													14	26					0	0	0.024245	0	0
DSP	1832	broad.mit.edu	37	6	7578716	7578716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:7578716G>A	ENST00000379802.3	+	22	3346	c.3005G>A	c.(3004-3006)cGg>cAg	p.R1002Q	DSP_ENST00000418664.2_Missense_Mutation_p.R1002Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1002	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTTCATGCTCGGTACATTGAA	0.343000													32	52					0	0	0.013726	0	0
RHOU	58480	broad.mit.edu	37	1	228879439	228879439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:228879439G>A	ENST00000366691.3	+	3	1395	c.729G>A	c.(727-729)atG>atA	p.M243I		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	243					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				CAGATAAAATGAAAAACCTCT	0.443000													19	44					0	0	0.008871	0	0
RSAD2	91543	broad.mit.edu	37	2	7027287	7027287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:7027287C>T	ENST00000382040.3	+	3	866	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	RSAD2_ENST00000541728.1_Missense_Mutation_p.R137C	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	244					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		AAACCCTGTCCGCTGGAAAGT	0.383000													5	24					0	0	0.029380	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147156	52147156	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:52147156G>A	ENST00000360844.6	-	5	929	c.888C>T	c.(886-888)tcC>tcT	p.S296S	SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	296	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TTGAGGTCTGGGAAGGATTGA	0.617000													22	55					0	0	0.014323	0	0
PGLS	25796	broad.mit.edu	37	19	17628557	17628557	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:17628557G>A	ENST00000252603.2	+	4	581	c.537G>A	c.(535-537)ccG>ccA	p.P179P		NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	179						cytosol	6-phosphogluconolactonase activity			endometrium(1)|lung(1)	2						GTGACTCCCCGAAGCCACCGC	0.562000													22	60					0	0	0.014323	0	0
CES4A	283848	broad.mit.edu	37	16	67039259	67039259	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:67039259C>T	ENST00000540947.2	+	11	1462	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	CES4A_ENST00000326686.5_Silent_p.F426F|CES4A_ENST00000541479.1_Silent_p.F422F|CES4A_ENST00000540579.1_Silent_p.F328F|CES4A_ENST00000338718.4_Silent_p.F449F|CES4A_ENST00000535696.1_Silent_p.F332F|CES4A_ENST00000398354.1_Silent_p.F399F	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	426						extracellular region	carboxylesterase activity	p.F399L(1)		large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						ATGCCACTTTCGTGTATGCCA	0.532000													41	65					0	0	0.036044	0	0
PITPNM2	57605	broad.mit.edu	37	12	123477172	123477172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:123477172G>A	ENST00000280562.5	-	15	2483	c.2278C>T	c.(2278-2280)Cac>Tac	p.H760Y	PITPNM2_ENST00000542749.1_Missense_Mutation_p.H760Y|PITPNM2_ENST00000392428.1_Missense_Mutation_p.H481Y|PITPNM2_ENST00000320201.4_Missense_Mutation_p.H760Y			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	760	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TCCGCGGGGTGGAAGAGGTTG	0.682000													35	122					0	0	0.021022	0	0
OR5M9	390162	broad.mit.edu	37	11	56230826	56230826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:56230826G>A	ENST00000279791.1	-	1	51	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					AGCTCCTGACGACAGGTCAGC	0.428000													12	14					0	0	0.020292	0	0
AP1M1	8907	broad.mit.edu	37	19	16338374	16338374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:16338374C>T	ENST00000291439.3	+	7	1138	c.689C>T	c.(688-690)tCc>tTc	p.S230F	AP1M1_ENST00000541844.1_Missense_Mutation_p.S158F|AP1M1_ENST00000429941.2_Missense_Mutation_p.S230F|AP1M1_ENST00000590756.1_Missense_Mutation_p.S158F|AP1M1_ENST00000444449.2_Missense_Mutation_p.S242F	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	230	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						AAAAGCAAATCCGTGGAGCTG	0.602000													38	89					0	0	0.025465	0	0
ITGAX	3687	broad.mit.edu	37	16	31384650	31384650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:31384650G>A	ENST00000268296.4	+	20	2568	c.2447G>A	c.(2446-2448)gGa>gAa	p.G816E	ITGAX_ENST00000562522.1_Missense_Mutation_p.G816E	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	816					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GACTCCTACGGAACCACCATC	0.612000													27	47					0	0	0.030593	0	0
MLKL	197259	broad.mit.edu	37	16	74716619	74716619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:74716619C>T	ENST00000308807.7	-	6	1349	c.886G>A	c.(886-888)Gat>Aat	p.D296N	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	296	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TTTTCCCTATCCAACAGCTCC	0.572000													21	56					0	0	0.010504	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45255633	45255633	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr22:45255633C>T	ENST00000352766.7	+	16	1530	c.1530C>T	c.(1528-1530)gtC>gtT	p.V510V	ARHGAP8_ENST00000389773.5_Silent_p.V422V|ARHGAP8_ENST00000517296.3_Silent_p.V510V|ARHGAP8_ENST00000336963.4_Intron|ARHGAP8_ENST00000356099.6_Silent_p.V300V|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.V431V|ARHGAP8_ENST00000389774.2_Silent_p.V331V																breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						GCCTGCGTGTCACTGGCTGCC	0.667000													32	30					0	0	0.017118	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92706125	92706125	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:92706125C>T	ENST00000318445.6	+	10	2107	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	SLCO3A1_ENST00000424469.2_Silent_p.I631I|RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR|RP11-152L20.3_ENST00000561674.1_RNA	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	631					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GCATCGCCATCGCGCTCAAAT	0.552000													20	58					0	0	0.014323	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102537323	102537323	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:102537323G>A	ENST00000321521.9	+	30	4230	c.3657G>A	c.(3655-3657)ggG>ggA	p.G1219G	PPIP5K2_ENST00000414217.1_Silent_p.G1219G|PPIP5K2_ENST00000358359.3_Silent_p.G1240G			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1240					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAAACACTGGGAAAAAGAAAT	0.318000													9	12					0	0	0.004482	0	0
MYO10	4651	broad.mit.edu	37	5	16764485	16764485	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:16764485G>A	ENST00000513610.1	-	12	1654	c.1200C>T	c.(1198-1200)tcC>tcT	p.S400S		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	400	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCATGGCCAGGGAGTCCCTGC	0.552000													13	50					0	0	0.013537	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395968	47395968	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:47395968T>A	ENST00000310638.4	-	12	1410	c.1379A>T	c.(1378-1380)aAa>aTa	p.K460I	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.K461I	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	460					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGCAAATTGTTTCCCGATGCA	0.582000													31	88					0	0	0.010818	0	0
MYO15A	51168	broad.mit.edu	37	17	18046115	18046115	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:18046115C>T	ENST00000205890.5	+	25	6209	c.5871C>T	c.(5869-5871)tcC>tcT	p.S1957S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1957	IQ 3.|Neck or regulatory domain.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGTTCCGGTCCCTGGTACACG	0.597000													3	7					0	0	0.014758	0	0
ARGFX	503582	broad.mit.edu	37	3	121305189	121305189	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:121305189C>T	ENST00000334384.3	+	4	700	c.690C>T	c.(688-690)atC>atT	p.I230I		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	230						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TATTCCAAATCATAGAACTGT	0.453000													42	113					0	0	0.027894	0	0
SNAPC4	6621	broad.mit.edu	37	9	139272679	139272679	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:139272679G>A	ENST00000298532.2	-	21	3968	c.3600C>T	c.(3598-3600)ccC>ccT	p.P1200P		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	1200	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGGACCAAGGGGGTTCTGCTT	0.682000													6	22					0	0	0.029380	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146619	156146619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:156146619C>T	ENST00000368285.3	+	15	2384	c.2117C>T	c.(2116-2118)cCa>cTa	p.P706L	SEMA4A_ENST00000368282.1_Missense_Mutation_p.P706L|SEMA4A_ENST00000368284.1_Missense_Mutation_p.P574L|SEMA4A_ENST00000355014.2_Missense_Mutation_p.P706L|SEMA4A_ENST00000368286.2_Missense_Mutation_p.P574L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	706					axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GTGGCCTCCCCATTGAGAGCA	0.622000													24	51					0	0	0.018920	0	0
KCNH6	81033	broad.mit.edu	37	17	61611504	61611504	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:61611504C>T	ENST00000583023.1	+	5	944	c.933C>T	c.(931-933)ttC>ttT	p.F311F	KCNH6_ENST00000581784.1_Silent_p.F311F|KCNH6_ENST00000456941.2_Silent_p.F311F|KCNH6_ENST00000580652.1_Silent_p.F311F|KCNH6_ENST00000314672.5_Silent_p.F311F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	311					regulation of transcription, DNA-dependent|signal transduction			p.F311F(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ACATCATGTTCGTCGTGGACA	0.587000													102	163					0	0	0.014410	0	0
RNF139	11236	broad.mit.edu	37	8	125498977	125498977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:125498977G>A	ENST00000303545.3	+	2	1459	c.1087G>A	c.(1087-1089)Gtc>Atc	p.V363I		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	363					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ATTAACTGCAGTCCTGCATTT	0.393000													67	228					0	0	0.014410	0	0
PRR23B	389151	broad.mit.edu	37	3	138739227	138739227	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:138739227C>T	ENST00000329447.5	-	1	541	c.277G>A	c.(277-279)Ggt>Agt	p.G93S	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	93										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTGTGTCCACCGAGAGACACT	0.662000													20	53					0	0	0.010504	0	0
SEMA3A	10371	broad.mit.edu	37	7	83764220	83764220	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:83764220T>A	ENST00000265362.3	-	2	474	c.160A>T	c.(160-162)Agc>Tgc	p.S54C	SEMA3A_ENST00000436949.1_Missense_Mutation_p.S54C	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	54	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TAACTGGAGCTGTTGGCCAAG	0.398000													12	57					0	0	0.024245	0	0
TMEM8C	389827	broad.mit.edu	37	9	136384048	136384048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:136384048C>T	ENST00000339996.3	-	3	448	c.347G>A	c.(346-348)gGg>gAg	p.G116E	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	116						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						CGAGTACACCCCGTAGCCCCA	0.617000													25	61					0	0	0.021523	0	0
TRPM2	7226	broad.mit.edu	37	21	45784067	45784067	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr21:45784067C>T	ENST00000397928.1	+	3	770	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	TRPM2_ENST00000300482.5_Nonsense_Mutation_p.Q109*|TRPM2_ENST00000397932.2_Nonsense_Mutation_p.Q109*|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.Q109*	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	109						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						CCACACCTTCCAGGGCACACA	0.572000													27	44					0	0	0.024334	0	0
GP1BA	2811	broad.mit.edu	37	17	4836270	4836270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:4836270C>T	ENST00000329125.5	+	2	446	c.371C>T	c.(370-372)tCc>tTc	p.S124F		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	124										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CTGGACGTCTCCTTCAACCGG	0.607000													8	87					0	0	0.006214	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725347	140725347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:140725347G>A	ENST00000253812.6	+	1	1747	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCTCCGCAGAGCCCGGCTA	0.682000													29	79					0	0	0.009535	0	0
NCAM2	4685	broad.mit.edu	37	21	22838993	22838993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr21:22838993G>A	ENST00000400546.1	+	13	1970	c.1721G>A	c.(1720-1722)gGa>gAa	p.G574E	NCAM2_ENST00000284894.7_Missense_Mutation_p.G432E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	574	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCTGTAAATGGAAAGGGACAA	0.318000													6	11					0	0	0.003080	0	0
KCNB2	9312	broad.mit.edu	37	8	73848683	73848683	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:73848683T>C	ENST00000523207.1	+	3	1681	c.1093T>C	c.(1093-1095)Ttc>Ctc	p.F365L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	365					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGCTACCAAGTTCACCAGTAT	0.423000													40	131					0	0	0.010771	0	0
STK11	6794	broad.mit.edu	37	19	1218459	1218459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:1218459C>T	ENST00000326873.7	+	2	1507	c.334C>T	c.(334-336)Cag>Tag	p.Q112*	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	112	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AAATGTCATCCAGCTGGTGGA	0.562000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			54	69					0	0	0.014410	0	0
SCN11A	11280	broad.mit.edu	37	3	38888816	38888816	+	Missense_Mutation	SNP	G	G	A	rs150988853		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:38888816G>A	ENST00000450244.1	-	26	4943	c.4745C>T	c.(4744-4746)tCc>tTc	p.S1582F	SCN11A_ENST00000456224.3_Missense_Mutation_p.S1544F|SCN11A_ENST00000302328.3_Missense_Mutation_p.S1582F			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1582					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1582F(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)	GACAAAGTAGGATGTGGCTAT	0.438000													10	46					0	0	0.008291	0	0
WNK2	65268	broad.mit.edu	37	9	96079878	96079878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:96079878C>T	ENST00000297954.4	+	29	6704	c.6704C>T	c.(6703-6705)cCc>cTc	p.P2235L	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P1847L|WNK2_ENST00000395477.2_Missense_Mutation_p.P2198L|WNK2_ENST00000471076.1_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.P1810L			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2235					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ACGGTCATTCCCGGAGCCGCC	0.657000													18	38					0	0	0.008871	0	0
NRXN3	9369	broad.mit.edu	37	14	80328179	80328179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr14:80328179G>A	ENST00000281127.7	+	6	2050	c.1171G>A	c.(1171-1173)Gtg>Atg	p.V391M	NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Missense_Mutation_p.V596M|NRXN3_ENST00000428277.2_Missense_Mutation_p.V418M|NRXN3_ENST00000335750.5_Missense_Mutation_p.V1020M|NRXN3_ENST00000554719.1_Missense_Mutation_p.V1020M	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	596					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTCCTATCAAGTGGACGAGAC	0.572000													11	24					0	0	0.013537	0	0
WIZ	58525	broad.mit.edu	37	19	15538239	15538239	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:15538239A>T	ENST00000389282.4	-	6	3419	c.3206T>A	c.(3205-3207)aTg>aAg	p.M1069K	WIZ_ENST00000545156.1_Missense_Mutation_p.M383K|WIZ_ENST00000263381.6_Missense_Mutation_p.M212K|WIZ_ENST00000599910.1_Missense_Mutation_p.M386K|WIZ_ENST00000599686.2_Missense_Mutation_p.M253K			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1069						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GGTCACGCCCATTTGCCGCAG	0.642000													17	35					0	0	0.007413	0	0
ADAM22	53616	broad.mit.edu	37	7	87765295	87765295	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:87765295G>A	ENST00000398204.4	+	14	1492	c.1168_splice	c.e14-1	p.G390_splice	ADAM22_ENST00000398209.3_Splice_Site_p.G390_splice|ADAM22_ENST00000398201.4_Splice_Site_p.G390_splice|ADAM22_ENST00000265727.7_Splice_Site_p.G390_splice|ADAM22_ENST00000315984.7_Splice_Site_p.G390_splice	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	390	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTTCTCTTAGGTGAATGTAAA	0.368000													16	59					0	0	0.033300	0	0
CCDC153	283152	broad.mit.edu	37	11	119061485	119061485	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:119061485G>A	ENST00000503566.2	-	5	413	c.414C>T	c.(412-414)gaC>gaT	p.D138D	CCDC153_ENST00000415318.1_Silent_p.D138D			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	138										lung(3)|stomach(1)	4						CCAGGGCCTGGTCCCGCTCTC	0.617000													40	35					0	0	0.023175	0	0
COQ9	57017	broad.mit.edu	37	16	57485015	57485015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:57485015C>T	ENST00000262507.6	+	2	206	c.137C>T	c.(136-138)tCt>tTt	p.S46F	COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_Missense_Mutation_p.S46F|COQ9_ENST00000567933.1_Missense_Mutation_p.S46F	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	46					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						GGGCTAAGGTCTTCAGATGAG	0.542000													21	28					0	0	0.008871	0	0
DNAJC12	56521	broad.mit.edu	37	10	69565494	69565494	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:69565494C>T	ENST00000225171.2	-	4	501	c.349G>A	c.(349-351)Gac>Aac	p.D117N	DNAJC12_ENST00000483798.2_Missense_Mutation_p.D147N	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	117					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						TGAGTCTTGTCAGATTCTTCC	0.368000													39	102					0	0	0.030466	0	0
SSPO	23145	broad.mit.edu	37	7	149526051	149526051	+	RNA	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:149526051G>A	ENST00000378016.2	+	0	15108							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)			TGGAGCCAGGGAGCTGCTGTC	0.657000													13	15					0	0	0.024245	0	0
WNK2	65268	broad.mit.edu	37	9	96055255	96055255	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:96055255C>T	ENST00000297954.4	+	23	5619	c.5619C>T	c.(5617-5619)ttC>ttT	p.F1873F	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_Silent_p.F200F|WNK2_ENST00000349097.3_Silent_p.F1485F|WNK2_ENST00000395477.2_Silent_p.F1836F|WNK2_ENST00000427277.2_Silent_p.F1448F			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1873					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTGGCGACTTCGTGAAGAAGG	0.706000													6	29					0	0	0.021553	0	0
FNDC7	163479	broad.mit.edu	37	1	109270661	109270661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:109270661C>T	ENST00000370017.3	+	7	1620	c.1343C>T	c.(1342-1344)tCa>tTa	p.S448L	FNDC7_ENST00000271311.2_Missense_Mutation_p.S449L	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	449	Fibronectin type-III 5.					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)		AGCAATATGTCATGTACTCCC	0.483000													50	69					0	0	0.014410	0	0
COL13A1	1305	broad.mit.edu	37	10	71690275	71690275	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:71690275G>A	ENST00000356340.3	+	28	2153	c.1617G>A	c.(1615-1617)ggG>ggA	p.G539G	COL13A1_ENST00000398973.3_Silent_p.G539G|COL13A1_ENST00000398972.3_Silent_p.G539G|COL13A1_ENST00000398964.3_Silent_p.G510G|COL13A1_ENST00000398974.3_Silent_p.G527G|COL13A1_ENST00000398969.3_Silent_p.G482G|COL13A1_ENST00000398971.3_Silent_p.G539G|COL13A1_ENST00000398966.3_Silent_p.G517G|COL13A1_ENST00000520267.1_Silent_p.G482G|COL13A1_ENST00000357811.3_Silent_p.G517G|COL13A1_ENST00000522165.1_Silent_p.G520G|COL13A1_ENST00000354547.3_Silent_p.G517G|COL13A1_ENST00000520133.1_Silent_p.G488G|COL13A1_ENST00000398968.3_Silent_p.G520G|COL13A1_ENST00000398978.3_Silent_p.G539G|COL13A1_ENST00000517713.1_Silent_p.G517G			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	539	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GAGAGAAGGGGGAAAAAGGGG	0.632000													14	32					0	0	0.020292	0	0
DIEXF	27042	broad.mit.edu	37	1	210016907	210016907	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:210016907C>T	ENST00000491415.2	+	11	1950	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	631					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GAAATTACTTCAAGAAGGAGG	0.453000													13	48					0	0	0.016723	0	0
ABCA8	10351	broad.mit.edu	37	17	66928525	66928525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:66928525G>A	ENST00000269080.2	-	6	838	c.701C>T	c.(700-702)tCc>tTc	p.S234F	ABCA8_ENST00000430352.2_Missense_Mutation_p.S234F|ABCA8_ENST00000586539.1_Missense_Mutation_p.S234F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	234						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AATGAATGAGGAAAATGAAAT	0.378000													14	42					0	0	0.016723	0	0
WBSCR17	64409	broad.mit.edu	37	7	70880955	70880955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:70880955G>A	ENST00000333538.5	+	4	1304	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	224	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCAGAAGAGGGAAGGCCTGAT	0.562000													20	78					0	0	0.014323	0	0
PTPRF	5792	broad.mit.edu	37	1	44086843	44086843	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:44086843C>T	ENST00000359947.4	+	33	5935	c.5595C>T	c.(5593-5595)gtC>gtT	p.V1865V	PTPRF_ENST00000438120.1_Silent_p.V1856V|PTPRF_ENST00000372413.3_Silent_p.V1856V|PTPRF_ENST00000372414.3_Silent_p.V1865V|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.V1224V	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1865	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGGCGTGGTCGACATGTTTC	0.622000													17	31					0	0	0.033300	0	0
CUL9	23113	broad.mit.edu	37	6	43167862	43167862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:43167862C>T	ENST00000252050.4	+	14	3436	c.3352C>T	c.(3352-3354)Ctc>Ttc	p.L1118F	CUL9_ENST00000354495.3_Missense_Mutation_p.L1008F|CUL9_ENST00000372647.2_Missense_Mutation_p.L1118F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1118					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTATAGCAACCTCACCTCCAG	0.567000													16	45					0	0	0.007413	0	0
FLAD1	80308	broad.mit.edu	37	1	154961378	154961378	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:154961378C>T	ENST00000368431.3	+	3	1693	c.873C>T	c.(871-873)ccC>ccT	p.P291P	FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000368433.1_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368428.1_Intron|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000292180.3_Intron|FLAD1_ENST00000315144.10_Intron	NM_001184892.1	NP_001171821.1	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	0					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGTGGCACCCCAGATCTCAGT	0.493000													12	16					0	0	0.010729	0	0
GRM3	2913	broad.mit.edu	37	7	86469000	86469000	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:86469000G>A	ENST00000361669.2	+	4	3269	c.2170G>A	c.(2170-2172)Gaa>Aaa	p.E724K	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.E316K|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.E596K	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	724					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGAGAAGCGGGAAACAGTCAT	0.498000													33	35					0	0	0.017118	0	0
UBR5	51366	broad.mit.edu	37	8	103311078	103311078	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:103311078G>A	ENST00000520539.1	-	25	3930	c.3324C>T	c.(3322-3324)gcC>gcT	p.A1108A	UBR5_ENST00000521922.1_Silent_p.A1102A|UBR5_ENST00000220959.4_Silent_p.A1108A	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1108					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCTCTTACTTGGCAGAAAGAA	0.333000													10	30					0	0	0.010729	0	0
DNAH5	1767	broad.mit.edu	37	5	13824396	13824396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:13824396G>A	ENST00000265104.4	-	39	6595	c.6491C>T	c.(6490-6492)aCc>aTc	p.T2164I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2164	AAA 1 (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)					TGCTCCCAAGGTCCGAAGAAC	0.418000									Kartagener syndrome				4	31					0	0	0.009096	0	0
USH2A	7399	broad.mit.edu	37	1	216497652	216497652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:216497652C>T	ENST00000366943.2	-	7	1572	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	USH2A_ENST00000366942.3_Missense_Mutation_p.E396K|USH2A_ENST00000307340.3_Missense_Mutation_p.E396K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	396	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCCTTATTTCCGTTGGTTGT	0.313000										HNSCC(13;0.011)			6	17					0	0	0.029380	0	0
DENND2C	163259	broad.mit.edu	37	1	115137132	115137132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:115137132C>T	ENST00000393274.1	-	18	3018	c.2393G>A	c.(2392-2394)cGa>cAa	p.R798Q	DENND2C_ENST00000393277.1_Missense_Mutation_p.R686Q|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.R741Q	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	798										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATTTCATTTCGTTCTTCCAA	0.353000													26	49					0	0	0.027356	0	0
RUSC2	9853	broad.mit.edu	37	9	35561090	35561090	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:35561090C>T	ENST00000455600.1	+	11	4914	c.4345C>T	c.(4345-4347)Ccg>Tcg	p.P1449S		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1449	SH3.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCAGTCCTCCGTGGTAAGC	0.647000													15	19					0	0	0.020292	0	0
SLC30A8	169026	broad.mit.edu	37	8	118170030	118170030	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:118170030C>T	ENST00000427715.2	+	7	806	c.372C>T	c.(370-372)atC>atT	p.I124I	SLC30A8_ENST00000519688.1_Silent_p.I124I|SLC30A8_ENST00000456015.2_Silent_p.I173I|SLC30A8_ENST00000521243.1_Silent_p.I124I	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	173					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ATTACCAGATCCAGGCGACTG	0.567000													163	567					0	0	0.014410	0	0
KATNB1	10300	broad.mit.edu	37	16	57785893	57785893	+	Silent	SNP	T	T	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:57785893T>G	ENST00000379661.3	+	8	950	c.558T>G	c.(556-558)ccT>ccG	p.P186P		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	186	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CTGAGTTCCCTGGTCACACGG	0.637000													10	28					0	0	0.008291	0	0
PSD	5662	broad.mit.edu	37	10	104174684	104174684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:104174684C>T	ENST00000020673.5	-	4	1586	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N	PSD_ENST00000406432.1_Missense_Mutation_p.D354N	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	354					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCCTCATCGTCGTCCTCATCC	0.667000													33	55					0	0	0.015359	0	0
NPIPB4	440345	broad.mit.edu	37	16	21858749	21858749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:21858749C>T	ENST00000415645.2	-	2	273	c.234G>A	c.(232-234)tgG>tgA	p.W78*	NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000451409.1_5'UTR|NPIPB4_ENST00000357370.5_Nonsense_Mutation_p.W78*					nuclear pore complex interacting protein family, member B4																		GGTAAACTATCCAGAGGGTAA	0.358000													15	49					0	0	0.024245	0	0
KTN1	3895	broad.mit.edu	37	14	56104545	56104545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr14:56104545C>T	ENST00000416613.1	+	11	1837	c.1765C>T	c.(1765-1767)Cat>Tat	p.H589Y	KTN1_ENST00000438792.2_Missense_Mutation_p.H589Y|KTN1_ENST00000413890.2_Missense_Mutation_p.H589Y|KTN1_ENST00000395308.1_Missense_Mutation_p.H589Y|KTN1_ENST00000395314.3_Missense_Mutation_p.H589Y|KTN1_ENST00000395309.3_Missense_Mutation_p.H589Y|KTN1_ENST00000395311.1_Missense_Mutation_p.H589Y			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	589					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TCAGCAGTTCCATTCCCAGAT	0.373000			T	RET	papillary thryoid								38	42					0	0	0.027894	0	0
NLRP1	22861	broad.mit.edu	37	17	5456793	5456793	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:5456793T>C	ENST00000345221.3	-	5	2995	c.2441A>G	c.(2440-2442)gAc>gGc	p.D814G	NLRP1_ENST00000262467.5_Missense_Mutation_p.D814G|NLRP1_ENST00000269280.4_Missense_Mutation_p.D814G|NLRP1_ENST00000354411.3_Missense_Mutation_p.D814G|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.D814G|NLRP1_ENST00000577119.1_Missense_Mutation_p.D814G	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	814					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCCACTTAGGTCCAGCTCCTT	0.567000													21	33					0	0	0.008871	0	0
PARS2	25973	broad.mit.edu	37	1	55223653	55223653	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:55223653G>A	ENST00000371279.3	-	2	1264	c.1182C>T	c.(1180-1182)taC>taT	p.Y394Y		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	394					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TGATGTGGTCGTACAGCTGCC	0.602000													4	111					0	0	0.009096	0	0
ACSL5	51703	broad.mit.edu	37	10	114136158	114136158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:114136158G>A	ENST00000356116.1	+	1	203	c.91G>A	c.(91-93)Gga>Aga	p.G31R	ACSL5_ENST00000479936.1_Intron|ACSL5_ENST00000354655.4_Intron|ACSL5_ENST00000433418.1_5'UTR|ACSL5_ENST00000393081.1_Intron|ACSL5_ENST00000354273.4_5'UTR	NM_016234.3	NP_057318.2	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	0					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CTCAGAGCCGGGAAGCCCCCA	0.602000													34	82					0	0	0.019004	0	0
LLGL2	3993	broad.mit.edu	37	17	73569281	73569281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:73569281C>T	ENST00000392550.3	+	20	2764	c.2647C>T	c.(2647-2649)Ccc>Tcc	p.P883S	LLGL2_ENST00000577200.1_Missense_Mutation_p.P883S|LLGL2_ENST00000167462.5_Missense_Mutation_p.P883S	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	883					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTGCTCAAGCCCCAGGTGCG	0.647000													19	78					0	0	0.008871	0	0
KCNK10	54207	broad.mit.edu	37	14	88729741	88729741	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr14:88729741C>T	ENST00000340700.5	-	2	643	c.192G>A	c.(190-192)caG>caA	p.Q64Q	KCNK10_ENST00000312350.5_Silent_p.Q69Q|KCNK10_ENST00000319231.5_Silent_p.Q69Q	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	64					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCATGACGGTCTGCAAGCCCC	0.607000													39	48					0	0	0.023175	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6081910	6081910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:6081910C>T	ENST00000409021.3	-	7	1680	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.D246N|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.D411N|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.D246N|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.D411N	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	411	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTGAGAGGTCGTCAATGACG	0.617000													9	9					0	0	0.006214	0	0
WNT5B	81029	broad.mit.edu	37	12	1748983	1748983	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:1748983G>A	ENST00000397196.2	+	4	694	c.462G>A	c.(460-462)cgG>cgA	p.R154R	WNT5B_ENST00000542408.1_Intron|WNT5B_ENST00000537031.1_Silent_p.R154R|WNT5B_ENST00000310594.3_Silent_p.R154R	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	154					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			ACCTGCCCCGGGACTGGCTGT	0.701000													19	40					0	0	0.008871	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996243	143996243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:143996243G>A	ENST00000323110.2	-	4	679	c.677C>T	c.(676-678)gCc>gTc	p.A226V		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	226					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GACCTCCAGGGCATGGAGGAA	0.597000									Familial Hyperaldosteronism type I				19	77					0	0	0.012319	0	0
TENM2	57451	broad.mit.edu	37	5	167626002	167626002	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:167626002C>T	ENST00000519204.1	+	15	2800	c.2682C>T	c.(2680-2682)tcC>tcT	p.S894S	TENM2_ENST00000403607.2_Silent_p.S839S|TENM2_ENST00000520394.1_Silent_p.S783S|TENM2_ENST00000545108.1_Silent_p.S1015S|TENM2_ENST00000518659.1_Silent_p.S1015S					teneurin transmembrane protein 2																		AGGAGAACTCCATCCCCAGCT	0.582000													9	15					0	0	0.006214	0	0
SHKBP1	92799	broad.mit.edu	37	19	41096183	41096183	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:41096183C>T	ENST00000291842.5	+	16	1672	c.1623C>T	c.(1621-1623)ccC>ccT	p.P541P	SHKBP1_ENST00000597649.1_3'UTR|SHKBP1_ENST00000600733.1_Silent_p.P516P	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	541						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACGGCTCACCCACGACAGCCT	0.701000													4	15					0	0	0.014758	0	0
PHAX	51808	broad.mit.edu	37	5	125939782	125939782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:125939782G>A	ENST00000297540.4	+	2	1312	c.617G>A	c.(616-618)aGg>aAg	p.R206K		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	206	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						GTCAAAGACAGGCTAGGGAAC	0.418000													9	10					0	0	0.008291	0	0
ZNF99	7652	broad.mit.edu	37	19	22941691	22941691	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:22941691G>A	ENST00000397104.3	-	5	746	c.747C>T	c.(745-747)ccC>ccT	p.P249P	ZNF99_ENST00000596209.1_Silent_p.P340P					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CACATTTGTAGGGTTTCTTTC	0.368000													12	40					0	0	0.010729	0	0
MYO1G	64005	broad.mit.edu	37	7	45007302	45007302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:45007302C>T	ENST00000258787.7	-	14	1820	c.1684G>A	c.(1684-1686)Ggg>Agg	p.G562R		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	562	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCCTGCTGCCCGTCCGGCCAC	0.642000													25	93					0	0	0.024334	0	0
SLC12A6	9990	broad.mit.edu	37	15	34527391	34527391	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:34527391C>T	ENST00000354181.3	-	25	3844	c.3352G>A	c.(3352-3354)Gat>Aat	p.D1118N	SLC12A6_ENST00000458406.2_Missense_Mutation_p.D1059N|SLC12A6_ENST00000397702.2_Missense_Mutation_p.D1059N|SLC12A6_ENST00000290209.5_Missense_Mutation_p.D1067N|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D1109N|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D1118N|SLC12A6_ENST00000451844.2_Missense_Mutation_p.D930N|SLC12A6_ENST00000397707.2_Missense_Mutation_p.D1103N|SLC12A6_ENST00000560164.1_Missense_Mutation_p.D930N|SLC12A6_ENST00000560611.1_Missense_Mutation_p.D1118N			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	1118					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CAGTTTTCATCACCCTCAGGG	0.428000													31	85					0	0	0.012213	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741427	140741427	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:140741427C>T	ENST00000522605.1	+	1	1725	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCCTCTTCGATATGGTGC	0.657000													10	34					0	0	0.033300	0	0
VPS8	23355	broad.mit.edu	37	3	184542424	184542424	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:184542424G>A	ENST00000287546.4	+	2	175	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	VPS8_ENST00000446204.2_Missense_Mutation_p.E2K|VPS8_ENST00000436792.2_Missense_Mutation_p.E2K|VPS8_ENST00000437079.3_Missense_Mutation_p.E2K|VPS8_ENST00000424463.2_Missense_Mutation_p.E2K	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	2							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AGTAAATATGGAAAATGAACC	0.373000													8	33					0	0	0.004482	0	0
PRKDC	5591	broad.mit.edu	37	8	48869985	48869985	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:48869985T>A	ENST00000314191.2	-	2	217	c.161A>T	c.(160-162)cAg>cTg	p.Q54L	PRKDC_ENST00000338368.3_Missense_Mutation_p.Q54L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	54					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TAAAGATGTCTGTAATGCTGT	0.333000								Non-homologous end-joining					7	12					0	0	0.029380	0	0
ATP13A1	57130	broad.mit.edu	37	19	19767573	19767573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:19767573G>A	ENST00000357324.6	-	7	1005	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	ATP13A1_ENST00000291503.5_Missense_Mutation_p.R209C	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	327					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGTGGGGAGCGGCCTGCAGGG	0.672000													8	27					0	0	0.006214	0	0
PIAS2	9063	broad.mit.edu	37	18	44424036	44424036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr18:44424036C>T	ENST00000585916.1	-	8	1021	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q	PIAS2_ENST00000324794.7_Missense_Mutation_p.R341Q|PIAS2_ENST00000545673.1_Missense_Mutation_p.R51Q	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	341					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding	p.R341L(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CAAGGATACCCGAAGGCTAGT	0.303000													22	84					0	0	0.016522	0	0
MUC16	94025	broad.mit.edu	37	19	9061597	9061597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:9061597G>A	ENST00000397910.4	-	3	26052	c.25849C>T	c.(25849-25851)Cca>Tca	p.P8617S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8619	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCAAATTTGGAGGTGAACTG	0.483000													23	67					0	0	0.018920	0	0
FBN3	84467	broad.mit.edu	37	19	8176006	8176006	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:8176006G>A	ENST00000600128.1	-	33	4560	c.4146C>T	c.(4144-4146)ccC>ccT	p.P1382P	FBN3_ENST00000270509.2_Silent_p.P1382P|FBN3_ENST00000601739.1_Silent_p.P1382P			Q75N90	FBN3_HUMAN	fibrillin 3	1382	EGF-like 21; 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						GGTACCCGCCGGGCGCATTGA	0.657000													18	38					0	0	0.033300	0	0
EXPH5	23086	broad.mit.edu	37	11	108409813	108409813	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:108409813G>A	ENST00000265843.4	-	3	491	c.381C>T	c.(379-381)tcC>tcT	p.S127S	EXPH5_ENST00000428840.1_Silent_p.S51S|EXPH5_ENST00000525344.1_Silent_p.S120S	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	127					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)		ATGAGAACAGGGAAGCAAATG	0.408000													45	50					0	0	0.014410	0	0
NHSL2	340527	broad.mit.edu	37	X	71360111	71360111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:71360111C>T	ENST00000373677.1	+	2	2877	c.1615C>T	c.(1615-1617)Ccc>Tcc	p.P539S	NHSL2_ENST00000535692.1_Missense_Mutation_p.P539S|NHSL2_ENST00000540800.1_Missense_Mutation_p.P905S|NHSL2_ENST00000510661.1_Missense_Mutation_p.P674S			F5H593	F5H593_HUMAN	NHS-like 2	905										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CTTGGCTATGCCCCCCAGGAG	0.577000													3	35					0	0	0.004672	0	0
SOX10	6663	broad.mit.edu	37	22	38370097	38370097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr22:38370097G>A	ENST00000396884.2	-	4	1088	c.806C>T	c.(805-807)cCt>cTt	p.P269L	SOX10_ENST00000360880.2_Missense_Mutation_p.P269L|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	269						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GTCGATGTGAGGCTTCCCGCC	0.622000													84	89					0	0	0.014410	0	0
MUC4	4585	broad.mit.edu	37	3	195516830	195516830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:195516830C>T	ENST00000463781.3	-	2	2080	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.E541K	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	546					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCTCCTGGTTCCCCTATTGCT	0.547000													66	146					0	0	0.014410	0	0
KPNA2	3838	broad.mit.edu	37	17	66039321	66039321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:66039321C>T	ENST00000537025.2	+	7	1392	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	KPNA2_ENST00000330459.3_Missense_Mutation_p.R258W			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	258					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TACCTTAGTTCGGCTCCTGCA	0.453000													103	171					0	0	0.014410	0	0
OR1L6	392390	broad.mit.edu	37	9	125512178	125512178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:125512178C>T	ENST00000373684.1	+	1	160	c.160C>T	c.(160-162)Ctc>Ttc	p.L54F	OR1L6_ENST00000304720.2_Missense_Mutation_p.L18F			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						CCTCCTGGGCCTCTCTTCCAA	0.532000													59	137					0	0	0.014410	0	0
LUZP2	338645	broad.mit.edu	37	11	24750779	24750779	+	Missense_Mutation	SNP	C	C	T	rs150458536		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:24750779C>T	ENST00000336930.6	+	2	193	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_5'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	43						extracellular region		p.R43C(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CACCATTCTTCGTCAGCTGAC	0.433000													15	22					0	0	0.024245	0	0
ESRP2	80004	broad.mit.edu	37	16	68269602	68269602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:68269602C>T	ENST00000473183.2	-	2	800	c.262G>A	c.(262-264)Gag>Aag	p.E88K	ESRP2_ENST00000565858.1_Missense_Mutation_p.E88K			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	88					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CCGCTCGCCTCGCGGCACTGC	0.726000													5	19					0	0	0.014758	0	0
TET3	200424	broad.mit.edu	37	2	74327599	74327599	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:74327599C>T	ENST00000409262.3	+	9	3279	c.3279C>T	c.(3277-3279)tcC>tcT	p.S1093S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1093							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACTTCAGCTCCTTCAAGTACA	0.597000													7	4					0	0	0.003080	0	0
CRTAM	56253	broad.mit.edu	37	11	122738147	122738147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:122738147G>A	ENST00000227348.4	+	8	895	c.848G>A	c.(847-849)aGa>aAa	p.R283K	CRTAM_ENST00000533709.1_Missense_Mutation_p.R84K	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	283					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGACTGGCAAGAAAGAAAAGT	0.388000													11	24					0	0	0.008291	0	0
FGFR2	2263	broad.mit.edu	37	10	123274775	123274775	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:123274775G>A	ENST00000358487.5	-	9	1415	c.1143C>T	c.(1141-1143)taC>taT	p.Y381Y	FGFR2_ENST00000369061.4_Silent_p.Y269Y|FGFR2_ENST00000357555.5_Silent_p.Y292Y|FGFR2_ENST00000356226.4_Silent_p.Y266Y|FGFR2_ENST00000369059.1_Silent_p.Y267Y|FGFR2_ENST00000457416.2_Silent_p.Y382Y|FGFR2_ENST00000351936.6_Silent_p.Y381Y|FGFR2_ENST00000346997.2_Silent_p.Y381Y|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000369056.1_Silent_p.Y382Y|FGFR2_ENST00000478859.1_Silent_p.Y153Y|FGFR2_ENST00000360144.3_Silent_p.Y293Y	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	381					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CCCCTATGCAGTAAATGGCTA	0.512000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				33	73					0	0	0.023175	0	0
NLRP13	126204	broad.mit.edu	37	19	56424075	56424075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:56424075C>T	ENST00000588751.1	-	5	1132	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	NLRP13_ENST00000342929.3_Missense_Mutation_p.D370N			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	370	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCCTTAAGATCTCTCACAAAC	0.453000													22	75					0	0	0.018920	0	0
COL21A1	81578	broad.mit.edu	37	6	55933851	55933851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:55933851C>T	ENST00000244728.5	-	22	2481	c.2084G>A	c.(2083-2085)gGa>gAa	p.G695E	COL21A1_ENST00000535941.1_Missense_Mutation_p.G695E|COL21A1_ENST00000370819.1_Missense_Mutation_p.G692E|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.G95E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	695	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACCTTTTTTCCTTGAATCCC	0.403000													4	20					0	0	0.014758	0	0
DCX	1641	broad.mit.edu	37	X	110544956	110544956	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:110544956G>A	ENST00000338081.3	-	7	1456	c.1285C>T	c.(1285-1287)Ctg>Ttg	p.L429L	DCX_ENST00000371993.2_Silent_p.L348L|DCX_ENST00000356220.3_Silent_p.L353L|DCX_ENST00000356915.2_Silent_p.L353L|DCX_ENST00000488120.1_Silent_p.L348L	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	429					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TCCAAGGACAGAGGCAGGTAC	0.413000													29	21					0	0	0.037714	0	0
RYR1	6261	broad.mit.edu	37	19	38976703	38976703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:38976703C>T	ENST00000355481.4	+	34	5539	c.5408C>T	c.(5407-5409)cCg>cTg	p.P1803L	RYR1_ENST00000360985.3_Missense_Mutation_p.P1803L|RYR1_ENST00000359596.3_Missense_Mutation_p.P1803L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1803	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTGCCATCCCGCTGGAGGCC	0.731000													16	40					0	0	0.033300	0	0
OVCH2	341277	broad.mit.edu	37	11	7722018	7722018	+	RNA	SNP	A	A	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:7722018A>T	ENST00000454689.1	-	0	725				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		ACATGAGTGAACCTCCTGAAT	0.517000													3	6					0	0	0.004672	0	0
AKAP1	8165	broad.mit.edu	37	17	55183373	55183373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:55183373C>T	ENST00000337714.3	+	2	781	c.548C>T	c.(547-549)cCc>cTc	p.P183L	AKAP1_ENST00000571629.1_Missense_Mutation_p.P183L|AKAP1_ENST00000572557.1_Missense_Mutation_p.P183L|AKAP1_ENST00000314126.3_Missense_Mutation_p.P183L|AKAP1_ENST00000539273.1_Missense_Mutation_p.P183L	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	183					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CCAGGCTACCCCGTAGTCCCC	0.577000													27	50					0	0	0.021523	0	0
BAGE2	85319	broad.mit.edu	37	21	11039421	11039421	+	RNA	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr21:11039421C>T	ENST00000470054.1	-	0	782									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTCCAATTCGGTATTCACT	0.279000													8	136					0	0	0.004482	0	0
CLCN1	1180	broad.mit.edu	37	7	143036388	143036388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:143036388G>A	ENST00000343257.2	+	13	1531	c.1444G>A	c.(1444-1446)Gga>Aga	p.G482R		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	482			G -> R (in MCR).		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CATACCCTGCGGAGGCTTCAT	0.502000													53	201					0	0	0.014410	0	0
MGAM	8972	broad.mit.edu	37	7	141730492	141730492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:141730492G>A	ENST00000475668.2	+	12	1459	c.1405G>A	c.(1405-1407)Gac>Aac	p.D469N	MGAM_ENST00000549489.2_Missense_Mutation_p.D469N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	469	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)	TGGCCCATATGACAGGGGTTC	0.468000													26	94					0	0	0.027356	0	0
IDO2	169355	broad.mit.edu	37	8	39872789	39872789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:39872789G>A	ENST00000502986.2	+	11	1173	c.931G>A	c.(931-933)Gat>Aat	p.D311N	IDO2_ENST00000389060.4_Missense_Mutation_p.D298N|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	298					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CAGAATGAGGGATTACATGCC	0.458000													18	15					0	0	0.008871	0	0
MPP7	143098	broad.mit.edu	37	10	28347518	28347518	+	Missense_Mutation	SNP	C	C	T	rs145704516		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:28347518C>T	ENST00000337532.5	-	16	1589	c.1313G>A	c.(1312-1314)gGa>gAa	p.G438E	MPP7_ENST00000540098.1_Missense_Mutation_p.G438E|MPP7_ENST00000375732.1_Missense_Mutation_p.G438E|MPP7_ENST00000445954.2_Missense_Mutation_p.G313E|MPP7_ENST00000375719.3_Missense_Mutation_p.G438E	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	438	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTTATATTCTCCATATTCAAT	0.313000													33	86					0	0	0.012213	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47585753	47585753	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:47585753G>C	ENST00000371917.4	+	9	1129	c.1129G>C	c.(1129-1131)Gtg>Ctg	p.V377L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	377					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGCCTTCCTTGTGTTCCGCTC	0.532000													32	56					0	0	0.009535	0	0
NMNAT3	349565	broad.mit.edu	37	3	139279987	139279987	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:139279987G>A	ENST00000406824.1	-	7	1488	c.294C>T	c.(292-294)gcC>gcT	p.A98A	RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000413939.2_Silent_p.A119A|NMNAT3_ENST00000511444.1_3'UTR|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000406164.1_Silent_p.A171A|NMNAT3_ENST00000339837.5_Silent_p.A171A|NMNAT3_ENST00000296202.7_Silent_p.A208A			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	208					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CTTGGCCCAAGGCTCGCCTGA	0.542000													35	70					0	0	0.013726	0	0
OR6C70	390327	broad.mit.edu	37	12	55863781	55863781	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:55863781G>A	ENST00000327335.4	-	1	141	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GAATCCAGCAGAATGAGGGCA	0.373000													15	37					0	0	0.020292	0	0
TMEM180	79847	broad.mit.edu	37	10	104231132	104231132	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:104231132C>T	ENST00000238936.4	+	6	1044	c.807C>T	c.(805-807)ttC>ttT	p.F269F	TMEM180_ENST00000369931.3_Silent_p.F118F|TMEM180_ENST00000366277.2_5'UTR	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	269						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCCTGTGGTTCGTGAGCATGG	0.617000													27	64					0	0	0.034045	0	0
EPHA6	285220	broad.mit.edu	37	3	97251218	97251218	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:97251218C>T	ENST00000389672.5	+	11	2255	c.2217C>T	c.(2215-2217)gtC>gtT	p.V739V	EPHA6_ENST00000502694.1_Silent_p.V131V|EPHA6_ENST00000442602.2_Silent_p.V105V|EPHA6_ENST00000514100.1_Silent_p.V131V	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	644	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTGGAGAAGTCTGTAGTGGGC	0.383000													27	72					0	0	0.030593	0	0
ROS1	6098	broad.mit.edu	37	6	117686903	117686903	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:117686903C>T	ENST00000368508.3	-	19	3012	c.2812_splice	c.e19-1	p.G938_splice	ROS1_ENST00000368507.3_Splice_Site_p.G933_splice|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	938					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGAAAAGTTCCCTACAGGAT	0.318000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								5	10					0	0	0.014758	0	0
FAR2	55711	broad.mit.edu	37	12	29460611	29460611	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:29460611T>G	ENST00000182377.4	+	5	834	c.566T>G	c.(565-567)aTt>aGt	p.I189S	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Missense_Mutation_p.I189S|FAR2_ENST00000547116.1_Missense_Mutation_p.I92S	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	189					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						GATGCTATTATTGACGAGATT	0.403000													27	73					0	0	0.010818	0	0
OR52I2	143502	broad.mit.edu	37	11	4608745	4608745	+	Missense_Mutation	SNP	C	C	T	rs137965376	byFrequency	TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:4608745C>T	ENST00000312614.4	+	1	725	c.703C>T	c.(703-705)Ctt>Ttt	p.L235F		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTTCCTCTCTTATGGTGGG	0.488000													73	92					0	0	0.014410	0	0
ZNF670	93474	broad.mit.edu	37	1	247201207	247201207	+	Silent	SNP	A	A	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:247201207A>G	ENST00000366503.2	-	4	872	c.714T>C	c.(712-714)agT>agC	p.S238S		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GGCGAAGAGAACTGGAAAAAG	0.388000													13	41					0	0	0.020292	0	0
FLAD1	80308	broad.mit.edu	37	1	154961377	154961377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:154961377C>T	ENST00000368431.3	+	3	1692	c.872C>T	c.(871-873)cCc>cTc	p.P291L	FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000368433.1_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368428.1_Intron|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000292180.3_Intron|FLAD1_ENST00000315144.10_Intron	NM_001184892.1	NP_001171821.1	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	0					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGTGGCACCCCAGATCTCAG	0.493000													13	16					0	0	0.013537	0	0
LRRC30	339291	broad.mit.edu	37	18	7231816	7231816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr18:7231816C>T	ENST00000383467.2	+	1	694	c.680C>T	c.(679-681)tCg>tTg	p.S227L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	227										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TTCCCGAGGTCGCTTTGCCTG	0.577000													24	51					0	0	0.018920	0	0
ULBP1	80329	broad.mit.edu	37	6	150291158	150291158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:150291158C>T	ENST00000229708.2	+	4	675	c.632C>T	c.(631-633)cCc>cTc	p.P211L	ULBP1_ENST00000367345.1_Missense_Mutation_p.P211L	NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	211					antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		TCAGAACCACCCTCTCTGGCC	0.562000													3	6					0	0	0.004672	0	0
HRH2	3274	broad.mit.edu	37	5	175110686	175110686	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:175110686C>T	ENST00000231683.2	+	1	2223	c.450C>T	c.(448-450)tcC>tcT	p.S150S	HRH2_ENST00000377291.2_Silent_p.S150S	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	150					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	TTACCCTGTCCTTTCTGTCTA	0.547000													14	22					0	0	0.020292	0	0
NHS	4810	broad.mit.edu	37	X	17746034	17746034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:17746034C>T	ENST00000380060.3	+	6	4083	c.3745C>T	c.(3745-3747)Ccc>Tcc	p.P1249S	NHS_ENST00000398097.3_Missense_Mutation_p.P1093S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1249						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CTGTGCTTTTCCCACAGAAGG	0.448000													49	24					0	0	0.014410	0	0
OR52A5	390054	broad.mit.edu	37	11	5153503	5153503	+	Missense_Mutation	SNP	G	G	A	rs143161168		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:5153503G>A	ENST00000307388.1	-	1	369	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCCACATAGCGATCCAGGGCC	0.468000													10	22					0	0	0.008291	0	0
KLHL4	56062	broad.mit.edu	37	X	86868978	86868978	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:86868978A>G	ENST00000373119.4	+	2	666	c.521A>G	c.(520-522)aAc>aGc	p.N174S	KLHL4_ENST00000373114.4_Missense_Mutation_p.N174S	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	174						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AAAATGGAGAACTACTTGAAA	0.403000													22	7					0	0	0.012319	0	0
CD300LF	146722	broad.mit.edu	37	17	72700740	72700740	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:72700740T>C	ENST00000469092.1	-	3	544	c.268A>G	c.(268-270)Aaa>Gaa	p.K90E	CD300LF_ENST00000343125.4_Missense_Mutation_p.K90E|CD300LF_ENST00000581500.1_Missense_Mutation_p.K90E|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000464910.1_Missense_Mutation_p.K90E|CD300LF_ENST00000301573.9_Missense_Mutation_p.K87E|CD300LF_ENST00000583937.1_Missense_Mutation_p.K87E|CD300LF_ENST00000326165.6_Missense_Mutation_p.K87E|CD300LF_ENST00000361254.4_Missense_Mutation_p.K90E			Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	87	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTGCGGTTTTTCTGATTGTCC	0.493000													82	179					0	0	0.014410	0	0
SIRT6	51548	broad.mit.edu	37	19	4174812	4174812	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:4174812G>A	ENST00000337491.2	-	8	934	c.870C>T	c.(868-870)ccC>ccT	p.P290P	SIRT6_ENST00000305232.6_Silent_p.P263P|SIRT6_ENST00000594279.1_3'UTR|SIRT6_ENST00000601488.1_3'UTR|SIRT6_ENST00000381935.3_Silent_p.P218P	NM_016539.2	NP_057623.2	Q8N6T7	SIRT6_HUMAN	sirtuin 6	290	Pro-rich.				chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCGGGCGGGGCAGGGGTG	0.706000													4	3					0	0	0.014758	0	0
PTX4	390667	broad.mit.edu	37	16	1537732	1537732	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:1537732G>A	ENST00000447419.2	-	2	406	c.381C>T	c.(379-381)ctC>ctT	p.L127L	PTX4_ENST00000293922.1_Silent_p.L122L|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	127						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						CGCCCAGGGTGAGGTCCAAGG	0.706000													21	60					0	0	0.010504	0	0
ZNF749	388567	broad.mit.edu	37	19	57956710	57956710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:57956710G>A	ENST00000334181.4	+	3	2444	c.2194G>A	c.(2194-2196)Gac>Aac	p.D732N	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		ATGTGGGAAAGACTTCAACAA	0.393000													31	74					0	0	0.013726	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996386	140996386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:140996386C>T	ENST00000285879.4	+	4	3482	c.3196C>T	c.(3196-3198)Cgt>Tgt	p.R1066C	MAGEC1_ENST00000406005.2_Missense_Mutation_p.R133C	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1066	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCCTCCTCGTTACGAATT	0.493000										HNSCC(15;0.026)			64	51					0	0	0.014410	0	0
WNK1	65125	broad.mit.edu	37	12	968444	968444	+	Silent	SNP	C	C	T	rs61736906		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:968444C>T	ENST00000537687.1	+	6	2077	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	WNK1_ENST00000535572.1_Silent_p.F478F|WNK1_ENST00000530271.2_Silent_p.F478F|WNK1_ENST00000315939.6_Silent_p.F478F|WNK1_ENST00000340908.4_Silent_p.F71F|WNK1_ENST00000540360.1_3'UTR	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	478	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACCATGCCTTCTTCCAAGAGG	0.323000													12	54					0	0	0.013537	0	0
DHTKD1	55526	broad.mit.edu	37	10	12162807	12162807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:12162807C>T	ENST00000263035.4	+	17	2742	c.2680C>T	c.(2680-2682)Cct>Tct	p.P894S		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	894					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GGGCCGGCCCCCTTTGCCAGT	0.473000													105	378					0	0	0.014410	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481351	142481351	+	RNA	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:142481351C>T	ENST00000603901.1	+	0	425					NR_001296.3																						TGCCTTATCTCCGGCTGGGGC	0.562000													15	8					0	0	0.020292	0	0
NCAM2	4685	broad.mit.edu	37	21	22804491	22804491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr21:22804491C>T	ENST00000400546.1	+	12	1793	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	NCAM2_ENST00000284894.7_Missense_Mutation_p.S373F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	515	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCCAAGGTTTCCTTCAACAAA	0.453000													11	33					0	0	0.010729	0	0
MGAT3	4248	broad.mit.edu	37	22	39884917	39884917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr22:39884917C>T	ENST00000341184.6	+	2	1780	c.1565C>T	c.(1564-1566)cCg>cTg	p.P522L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	522					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GAGGGAAGGCCGCCCGCCCGG	0.677000													6	6					0	0	0.021553	0	0
PADI2	11240	broad.mit.edu	37	1	17420166	17420166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:17420166C>T	ENST00000375486.4	-	5	488	c.425G>A	c.(424-426)tGg>tAg	p.W142*	PADI2_ENST00000444885.2_Intron|PADI2_ENST00000375481.1_Nonsense_Mutation_p.W142*	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	142					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CTCGGGGCCCCAGGTCCAGGA	0.592000													23	55					0	0	0.012319	0	0
KCNG3	170850	broad.mit.edu	37	2	42720488	42720488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:42720488C>T	ENST00000306078.1	-	1	749	c.154G>A	c.(154-156)Gac>Aac	p.D52N	KCNG3_ENST00000394973.4_Missense_Mutation_p.D52N	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	52						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						TCGTAGTCGTCGCACACCTCG	0.682000													6	11					0	0	0.029380	0	0
DCHS1	8642	broad.mit.edu	37	11	6654053	6654053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:6654053G>A	ENST00000299441.3	-	6	3101	c.2690C>T	c.(2689-2691)cCt>cTt	p.P897L	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	897	Cadherin 9.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGTGTCTTCAGGTGCAGGAAA	0.582000													7	18					0	0	0.029380	0	0
CYC1	1537	broad.mit.edu	37	8	145151058	145151058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:145151058G>A	ENST00000318911.4	+	3	431	c.358G>A	c.(358-360)Gtg>Atg	p.V120M		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	120	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATATAAGCAGGTGTGCGCCTC	0.597000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	154	174					0	0	0.014410	0	0
OR10H4	126541	broad.mit.edu	37	19	16060411	16060411	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:16060411C>T	ENST00000322107.1	+	1	594	c.594C>T	c.(592-594)atC>atT	p.I198I		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CATCTGTCATCATGGGTGTGA	0.463000													85	151					0	0	0.014410	0	0
STAU2	27067	broad.mit.edu	37	8	74464404	74464404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:74464404G>A	ENST00000355780.5	-	12	1495	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L	STAU2_ENST00000522695.1_Missense_Mutation_p.S426L|STAU2_ENST00000521210.1_Missense_Mutation_p.S354L|STAU2_ENST00000519961.1_Missense_Mutation_p.S458L|STAU2_ENST00000524300.1_Missense_Mutation_p.S458L|STAU2_ENST00000523558.1_Missense_Mutation_p.S286L|STAU2_ENST00000517542.1_Missense_Mutation_p.S420L|STAU2_ENST00000521727.1_Missense_Mutation_p.S438L|STAU2_ENST00000521451.1_Missense_Mutation_p.S238L|STAU2_ENST00000522509.1_Missense_Mutation_p.S426L	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	458	Required for dendritic transport (By similarity).				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TGAACTATTCGATGTGGGAGA	0.443000													42	124					0	0	0.010771	0	0
VPS29	51699	broad.mit.edu	37	12	110933831	110933831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:110933831C>T	ENST00000549578.1	-	2	246	c.181G>A	c.(181-183)Gga>Aga	p.G61R	VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000360579.7_Missense_Mutation_p.G65R|VPS29_ENST00000549970.1_5'UTR|VPS29_ENST00000546588.1_Missense_Mutation_p.G93R	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	61					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCGAAGTCTCCTCTCACAATA	0.403000													15	39					0	0	0.028581	0	0
ZBTB38	253461	broad.mit.edu	37	3	141164718	141164718	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:141164718A>T	ENST00000514251.1	+	4	3767	c.3488A>T	c.(3487-3489)cAc>cTc	p.H1163L	ZBTB38_ENST00000441582.2_Missense_Mutation_p.H1163L|ZBTB38_ENST00000321464.5_Missense_Mutation_p.H1164L			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	1163					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GACGTGTGCCACGAAAACTCA	0.418000													54	125					0	0	0.014410	0	0
KCNK1	3775	broad.mit.edu	37	1	233807105	233807105	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:233807105C>T	ENST00000366621.3	+	3	1008	c.840C>T	c.(838-840)ttC>ttT	p.F280F	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Silent_p.F164F	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	280						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GAAAAATGTTCTATGTGAAGA	0.458000													15	41					0	0	0.020292	0	0
PXN	5829	broad.mit.edu	37	12	120652731	120652731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:120652731C>T	ENST00000397506.3	-	6	1664	c.611G>A	c.(610-612)gGa>gAa	p.G204E	PXN_ENST00000228307.7_Missense_Mutation_p.G392E|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000536957.1_Missense_Mutation_p.G390E|PXN_ENST00000458477.2_Missense_Mutation_p.G225E|PXN_ENST00000424649.2_Missense_Mutation_p.G358E|PXN_ENST00000267257.7_Missense_Mutation_p.G406E			P49023	PAXI_HUMAN	paxillin	392					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTTCCGGGATCCGATCTCCTC	0.612000													23	66					0	0	0.014323	0	0
IDO2	169355	broad.mit.edu	37	8	39873110	39873110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:39873110C>T	ENST00000502986.2	+	11	1494	c.1252C>T	c.(1252-1254)Cca>Tca	p.P418S	IDO2_ENST00000389060.4_Missense_Mutation_p.P405S|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	405					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						AATCCTTCACCCACGTGGTTA	0.572000													19	38					0	0	0.007413	0	0
GJB4	127534	broad.mit.edu	37	1	35227278	35227278	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:35227278G>A	ENST00000339480.1	+	2	793	c.423G>A	c.(421-423)gtG>gtA	p.V141V	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	141					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGGCCGCCGTGGATGCTGGCT	0.607000													19	63					0	0	0.008871	0	0
DST	667	broad.mit.edu	37	6	56513381	56513381	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:56513381G>A	ENST00000370754.5	-	12	1441	c.1442C>T	c.(1441-1443)cCt>cTt	p.P481L	DST_ENST00000370788.2_Missense_Mutation_p.P303L|DST_ENST00000312431.6_Missense_Mutation_p.P303L|DST_ENST00000421834.2_Missense_Mutation_p.P303L|DST_ENST00000370769.4_Missense_Mutation_p.P303L|DST_ENST00000361203.3_Missense_Mutation_p.P303L			Q03001	DYST_HUMAN	dystonin	303					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAGTTCTACAGGATTATTAGG	0.338000													8	9					0	0	0.004482	0	0
MGAT3	4248	broad.mit.edu	37	22	39884916	39884916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr22:39884916C>T	ENST00000341184.6	+	2	1779	c.1564C>T	c.(1564-1566)Ccg>Tcg	p.P522S		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	522					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CGAGGGAAGGCCGCCCGCCCG	0.677000													6	6					0	0	0.021553	0	0
LMTK3	114783	broad.mit.edu	37	19	49000828	49000828	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:49000828C>T	ENST00000600059.1	-	11	3725	c.3498G>A	c.(3496-3498)ccG>ccA	p.P1166P	LMTK3_ENST00000270238.3_Silent_p.P1195P					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCCTGGCTCTCGGGGGCGCTG	0.756000													4	16					0	0	0.009096	0	0
MIR563	693148	broad.mit.edu	37	3	15915345	15915345	+	RNA	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:15915345C>T	ENST00000385080.1	+	0	68					NR_030289.1																						ACATACGTTTCCCTGGTAGCC	0.388000													9	44					0	0	0.006214	0	0
DMBT1	1755	broad.mit.edu	37	10	124395546	124395546	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:124395546C>T	ENST00000338354.3	+	50	6307	c.6201C>T	c.(6199-6201)ttC>ttT	p.F2067F	DMBT1_ENST00000344338.3_Silent_p.F2057F|DMBT1_ENST00000359586.6_Silent_p.F787F|DMBT1_ENST00000330163.4_Silent_p.F1439F|DMBT1_ENST00000368955.3_Silent_p.F2057F|DMBT1_ENST00000368956.2_Silent_p.F1439F|DMBT1_ENST00000368909.3_Silent_p.F2067F			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2067	CUB 2.				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)				TTGAAGTTTTCGATGGCCCCT	0.502000													14	41					0	0	0.020292	0	0
NPAP1	23742	broad.mit.edu	37	15	24923207	24923207	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:24923207G>A	ENST00000329468.2	+	1	2667	c.2193G>A	c.(2191-2193)ggG>ggA	p.G731G		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTGGTTCTGGGAACACACAAC	0.537000													40	102					0	0	0.023175	0	0
CCNA1	8900	broad.mit.edu	37	13	37006838	37006838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr13:37006838G>A	ENST00000418263.1	+	1	430	c.80G>A	c.(79-81)gGa>gAa	p.G27E	CCNA1_ENST00000449823.1_Intron|CCNA1_ENST00000463403.1_Intron|CCNA1_ENST00000440264.1_Intron|CCNA1_ENST00000255465.4_Missense_Mutation_p.G27E	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	27					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AGCTGGGAAGGACCGGGGCTC	0.547000													4	14					0	0	0.009096	0	0
TBX5	6910	broad.mit.edu	37	12	114793507	114793507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:114793507G>A	ENST00000310346.4	-	9	2053	c.1387C>T	c.(1387-1389)Cac>Tac	p.H463Y	TBX5_ENST00000349716.5_Missense_Mutation_p.H413Y|TBX5_ENST00000405440.2_Missense_Mutation_p.H463Y	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	463					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		ACAGGCTGGTGGGCCACGGAG	0.662000													29	26					0	0	0.009535	0	0
BMI1	648	broad.mit.edu	37	10	22615839	22615839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:22615839C>T	ENST00000376663.3	+	3	638	c.133C>T	c.(133-135)Cgt>Tgt	p.R45C	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.R188C	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						GTGTATTGTTCGTTACCTGGA	0.363000													63	120					0	0	0.014410	0	0
ABCA1	19	broad.mit.edu	37	9	107599324	107599324	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:107599324C>T	ENST00000374736.3	-	11	1642	c.1248G>A	c.(1246-1248)tgG>tgA	p.W416*		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	416					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGAGTTCCTCCCACATGCCTT	0.547000													16	28					0	0	0.033300	0	0
SCNN1G	6340	broad.mit.edu	37	16	23224037	23224037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:23224037G>A	ENST00000300061.2	+	9	1476	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	445					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CTTTGTCCAGGAAGAGCTGGG	0.587000													16	71					0	0	0.033300	0	0
PORCN	64840	broad.mit.edu	37	X	48371041	48371041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:48371041C>T	ENST00000367574.4	+	6	912	c.407C>T	c.(406-408)tCc>tTc	p.S136F	PORCN_ENST00000359882.4_Missense_Mutation_p.S207F|PORCN_ENST00000537758.1_Missense_Mutation_p.S207F|PORCN_ENST00000326194.6_Missense_Mutation_p.S207F|PORCN_ENST00000355961.4_Missense_Mutation_p.S207F|PORCN_ENST00000355092.3_Missense_Mutation_p.S207F|PORCN_ENST00000361988.3_Missense_Mutation_p.S207F			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	207			S -> F (in FODH).		Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTGTGCTGTCCACTTGCGTG	0.642000													22	5					0	0	0.021523	0	0
CLCN1	1180	broad.mit.edu	37	7	143036389	143036389	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:143036389G>A	ENST00000343257.2	+	13	1532	c.1445G>A	c.(1444-1446)gGa>gAa	p.G482E		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	482			G -> R (in MCR).		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ATACCCTGCGGAGGCTTCATG	0.502000													53	199					0	0	0.014410	0	0
MTHFR	4524	broad.mit.edu	37	1	11856335	11856335	+	Silent	SNP	G	G	A	rs34279942	byFrequency	TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:11856335G>A	ENST00000376592.1	-	4	836	c.708C>T	c.(706-708)ttC>ttT	p.F236F	MTHFR_ENST00000376585.1_Silent_p.F277F|MTHFR_ENST00000376583.3_Silent_p.F277F|MTHFR_ENST00000376590.3_Silent_p.F236F			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	236					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	CAAAGCGGAAGAATGTGTCAG	0.557000													69	192					0	0	0.014410	0	0
NGLY1	55768	broad.mit.edu	37	3	25805745	25805745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:25805745G>A	ENST00000428257.1	-	3	411	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	NGLY1_ENST00000422724.2_Missense_Mutation_p.R25C|NGLY1_ENST00000417874.2_Missense_Mutation_p.R60C|NGLY1_ENST00000280700.5_Missense_Mutation_p.R102C|NGLY1_ENST00000396649.3_Missense_Mutation_p.R102C	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	102					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	p.R102S(1)|p.R102C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ATCAGGTCACGAATTTTTTGC	0.403000													34	128					0	0	0.017118	0	0
CERS3	204219	broad.mit.edu	37	15	100943031	100943031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:100943031C>T	ENST00000284382.4	-	13	1462	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	RP11-168G16.2_ENST00000560718.1_RNA|CERS3_ENST00000538112.2_Missense_Mutation_p.E347K|CERS3_ENST00000560944.1_5'UTR|CERS3_ENST00000394113.1_Missense_Mutation_p.E347K|RP11-168G16.2_ENST00000560643.1_RNA	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	347	Poly-Glu.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										tcctcttcctcttcATAATCC	0.468000													5	13					0	0	0.014758	0	0
RUNX1T1	862	broad.mit.edu	37	8	92998378	92998378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:92998378G>A	ENST00000523629.1	-	9	1707	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P381L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P418L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P391L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P381L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P391L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P429L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P381L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	418					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGGGTTGACGGGACTCTGCTG	0.458000													49	177					0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13920681	13920681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:13920681C>T	ENST00000265104.4	-	6	810	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	236	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)					TCCGTAGGTTCCTTTAGGGTT	0.353000									Kartagener syndrome				21	40					0	0	0.008871	0	0
SARS2	54938	broad.mit.edu	37	19	39408363	39408363	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:39408363C>T	ENST00000221431.6	-	12	1320		c.e12+1		CTC-360G5.8_ENST00000599996.1_Splice_Site|SARS2_ENST00000600042.1_Splice_Site|SARS2_ENST00000594171.1_Splice_Site|SARS2_ENST00000598831.1_Splice_Site|SARS2_ENST00000448145.2_Splice_Site|SARS2_ENST00000430193.3_Splice_Site	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial						seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CCTCTCCACACCGGAAGTGCA	0.642000													22	69					0	0	0.012319	0	0
ROBO2	6092	broad.mit.edu	37	3	77656973	77656973	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:77656973A>T	ENST00000461745.1	+	21	4061	c.3161A>T	c.(3160-3162)aAa>aTa	p.K1054I	ROBO2_ENST00000487694.3_Missense_Mutation_p.K1070I|ROBO2_ENST00000332191.8_Missense_Mutation_p.K1054I|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1054					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAAAAGAAGAAAAATAAAAAC	0.433000													11	35					0	0	0.010729	0	0
SLC13A2	9058	broad.mit.edu	37	17	26822813	26822813	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:26822813C>T	ENST00000444914.3	+	10	2016	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	SLC13A2_ENST00000537681.1_Silent_p.F412F|SLC13A2_ENST00000545060.1_Silent_p.F440F|SLC13A2_ENST00000314669.5_Silent_p.F483F	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	483						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)	CTACGATCTTCCTGCCCATCC	0.632000													36	64					0	0	0.027894	0	0
DHTKD1	55526	broad.mit.edu	37	10	12162808	12162808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:12162808C>T	ENST00000263035.4	+	17	2743	c.2681C>T	c.(2680-2682)cCt>cTt	p.P894L		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	894					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.P894L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GGCCGGCCCCCTTTGCCAGTA	0.478000													106	380					0	0	0.014410	0	0
KIF1B	23095	broad.mit.edu	37	1	10364548	10364548	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:10364548A>G	ENST00000377093.4	+	21	3458	c.3305A>G	c.(3304-3306)aAt>aGt	p.N1102S	KIF1B_ENST00000377083.1_Missense_Mutation_p.N1102S|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCTTACTGTAATTATAACACT	0.507000													47	26					0	0	0.014410	0	0
BRINP1	1620	broad.mit.edu	37	9	121971120	121971120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:121971120C>T	ENST00000265922.3	-	7	1483	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	DBC1_ENST00000482797.1_5'UTR	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		341					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GAGCTTGTAGCGGTTCTGCAG	0.552000													24	53					0	0	0.018920	0	0
PNMA5	114824	broad.mit.edu	37	X	152158843	152158843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:152158843C>T	ENST00000439251.1	-	2	1738	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	PNMA5_ENST00000361887.5_Missense_Mutation_p.E434K|PNMA5_ENST00000535214.1_Missense_Mutation_p.E434K|PNMA5_ENST00000452693.1_Missense_Mutation_p.E434K	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	434					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCCTGCCTCGTTTCCCAAC	0.612000													50	24					0	0	0.014410	0	0
RBM42	79171	broad.mit.edu	37	19	36124004	36124004	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:36124004C>T	ENST00000588161.1	+	5	568	c.442_splice	c.e5-1	p.A148_splice	RBM42_ENST00000586618.1_Intron|RBM42_ENST00000592202.1_Silent_p.A124A|RBM42_ENST00000262633.4_Silent_p.A178A|RBM42_ENST00000589871.1_Silent_p.A156A|RBM42_ENST00000360475.4_Silent_p.A149A|RBM42_ENST00000589559.1_Silent_p.A149A			Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	148						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTGCAGCAGCCGGCCCCCGCC	0.682000													40	131					0	0	0.033182	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502848	140502848	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:140502848C>A	ENST00000194152.1	+	1	1268	c.1268C>A	c.(1267-1269)aCt>aAt	p.T423N		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		423	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCGCCGTCACTGACTTGGGG	0.517000													7	62					5.18039e-06	5.28348e-06	0.003080	1	0
KMT2B	9757	broad.mit.edu	37	19	36223175	36223175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:36223175C>T	ENST00000420124.1	+	28	5725	c.5725C>T	c.(5725-5727)Ccc>Tcc	p.P1909S	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.P1909S																							CTTCCCAGCTCCCCCCAGACG	0.652000													5	8					0	0	0.021553	0	0
SUFU	51684	broad.mit.edu	37	10	104357021	104357021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:104357021G>A	ENST00000369902.3	+	7	1047	c.881G>A	c.(880-882)gGc>gAc	p.G294D	SUFU_ENST00000369899.2_Missense_Mutation_p.G294D|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000423559.2_Missense_Mutation_p.G294D	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	294					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ATCTGCATCGGCACACAGCCC	0.617000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation		OREG0020482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	93					0	0	0.009096	0	0
HGF	3082	broad.mit.edu	37	7	81381466	81381466	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:81381466C>T	ENST00000222390.5	-	5	821	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	HGF_ENST00000444829.2_Missense_Mutation_p.E199K|HGF_ENST00000457544.2_Missense_Mutation_p.E194K|HGF_ENST00000423064.2_Missense_Mutation_p.E199K|HGF_ENST00000453411.1_Missense_Mutation_p.E194K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	199	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.E199K(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCACAGACTTCGTAGCGTACC	0.468000													26	61					0	0	0.034045	0	0
TSIX	9383	broad.mit.edu	37	X	73046482	73046482	+	RNA	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:73046482C>T	ENST00000604411.1	+	0	34443				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TTAGGGTTCTCATCTTGGGAT	0.428000													55	40					0	0	0.014410	0	0
COX18	285521	broad.mit.edu	37	4	73923972	73923972	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:73923972G>A	ENST00000295890.4	-	6	952	c.861C>T	c.(859-861)ttC>ttT	p.F287F	COX18_ENST00000507544.2_Silent_p.F288F	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	287					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity	p.F287F(1)		large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAAGGCCCACGAAGCTGGAGC	0.408000													12	23					0	0	0.016723	0	0
LRP1B	53353	broad.mit.edu	37	2	141460005	141460005	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:141460005G>A	ENST00000389484.3	-	38	7112	c.6141C>T	c.(6139-6141)atC>atT	p.I2047I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2047					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)		CCTCATAGTCGATGGAGATGC	0.398000										TSP Lung(27;0.18)			16	46					0	0	0.033300	0	0
RMND5B	64777	broad.mit.edu	37	5	177569981	177569981	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:177569981G>A	ENST00000515098.1	+	6	765	c.414G>A	c.(412-414)gaG>gaA	p.E138E	RMND5B_ENST00000313386.4_Silent_p.E138E|RMND5B_ENST00000542098.1_Silent_p.E125E			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	138	LisH.									endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGTGGCCGAGGAGCTGTGCC	0.592000													10	41					0	0	0.006214	0	0
SLA2	84174	broad.mit.edu	37	20	35269716	35269716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:35269716C>T	ENST00000262866.4	-	2	445	c.23G>A	c.(22-24)aGa>aAa	p.R8K	SLA2_ENST00000360672.2_Missense_Mutation_p.R8K	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	8					antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CAGAGATTTTCTTCTGCTGGG	0.557000													25	60					0	0	0.027356	0	0
NR0B2	8431	broad.mit.edu	37	1	27239984	27239984	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:27239984G>A	ENST00000254227.3	-	1	473	c.448C>T	c.(448-450)Caa>Taa	p.Q150*		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	150	Ligand-binding (By similarity).				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		AGACAGCATTGAAGCCACTGC	0.597000													55	23					0	0	0.014410	0	0
GKAP1	80318	broad.mit.edu	37	9	86357495	86357495	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:86357495G>A	ENST00000376371.2	-	11	1325	c.925C>T	c.(925-927)Ctt>Ttt	p.L309F	GKAP1_ENST00000376362.1_5'UTR|GKAP1_ENST00000376365.3_Missense_Mutation_p.L258F	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	309					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						ACTTGCAGAAGTATTTCTGCC	0.363000													18	82					0	0	0.006122	0	0
PHLPP2	23035	broad.mit.edu	37	16	71710360	71710360	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:71710360G>A	ENST00000393524.2	-	8	2194	c.1461C>T	c.(1459-1461)gcC>gcT	p.A487A	PHLPP2_ENST00000567016.1_Silent_p.A522A|PHLPP2_ENST00000356272.3_Silent_p.A487A|PHLPP2_ENST00000568954.1_Silent_p.A487A|PHLPP2_ENST00000360429.3_Silent_p.A487A			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	487						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TGTTGGAACTGGCATAGAGGG	0.502000													17	34					0	0	0.007413	0	0
ZNF683	257101	broad.mit.edu	37	1	26691525	26691525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:26691525G>A	ENST00000436292.1	-	4	632	c.512C>T	c.(511-513)gCt>gTt	p.A171V	ZNF683_ENST00000349618.3_Missense_Mutation_p.A171V|ZNF683_ENST00000403843.1_Missense_Mutation_p.A171V|ZNF683_ENST00000374204.1_Missense_Mutation_p.A171V			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGGGCAGAAAGCCAAGGGGCT	0.617000													14	13					0	0	0.024245	0	0
ZNF676	163223	broad.mit.edu	37	19	22363330	22363330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:22363330C>T	ENST00000397121.2	-	3	1506	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATTCTTCACATTTG	0.418000													15	49					0	0	0.006122	0	0
BTN1A1	696	broad.mit.edu	37	6	26508969	26508969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:26508969G>A	ENST00000244513.6	+	7	1214	c.1148G>A	c.(1147-1149)gGa>gAa	p.G383E		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	383	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						ATGAAGAAAGGATTTGACCCC	0.552000													44	124					0	0	0.033182	0	0
UBR5	51366	broad.mit.edu	37	8	103338881	103338881	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:103338881G>C	ENST00000520539.1	-	13	2098	c.1492C>G	c.(1492-1494)Cct>Gct	p.P498A	UBR5_ENST00000521922.1_Missense_Mutation_p.P492A|UBR5_ENST00000220959.4_Missense_Mutation_p.P498A	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	498					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGACTAAAAGGAACTACACCC	0.328000													23	18					0	0	0.018920	0	0
PAPD4	167153	broad.mit.edu	37	5	78964811	78964811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:78964811C>T	ENST00000453514.1	+	12	1861	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F	PAPD4_ENST00000296783.3_Missense_Mutation_p.L390F|PAPD4_ENST00000428308.2_Missense_Mutation_p.L390F|PAPD4_ENST00000504233.1_Missense_Mutation_p.L347F|PAPD4_ENST00000423041.2_Missense_Mutation_p.L386F	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	390	PAP-associated.				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		CCTTGGGGACCTCTTACTGGG	0.368000													45	76					0	0	0.014410	0	0
IMPG1	3617	broad.mit.edu	37	6	76712660	76712660	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:76712660C>T	ENST00000369950.3	-	12	1455	c.1266G>A	c.(1264-1266)gtG>gtA	p.V422V	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	422					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CTGCTCCGTCCACTGTCTCAA	0.433000													19	52					0	0	0.008871	0	0
KCND3	3752	broad.mit.edu	37	1	112524279	112524279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:112524279G>A	ENST00000369697.1	-	1	1139	c.1070C>T	c.(1069-1071)tCg>tTg	p.S357L	KCND3_ENST00000315987.2_Missense_Mutation_p.S357L|KCND3_ENST00000302127.4_Missense_Mutation_p.S357L			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	357						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GTACCAAAACGAGGCAGGGAT	0.537000													24	24					0	0	0.016522	0	0
TP53TG3D	729264	broad.mit.edu	37	16	32265026	32265026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:32265026G>A	ENST00000398664.3	+	1	987	c.352G>A	c.(352-354)Ggg>Agg	p.G118R	TP53TG3D_ENST00000569631.1_Intron|TP53TG3D_ENST00000354614.3_Missense_Mutation_p.G118R|RP11-56L13.7_ENST00000562604.1_RNA	NM_001243722.1	NP_001230651.1			TP53 target 3D																		CTCCGCGGCAGGGTTGTCAAG	0.602000													21	91					0	0	0.016522	0	0
CYC1	1537	broad.mit.edu	37	8	145151057	145151057	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:145151057G>A	ENST00000318911.4	+	3	430	c.357G>A	c.(355-357)caG>caA	p.Q119Q		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	119	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TATATAAGCAGGTGTGCGCCT	0.597000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	151	173					0	0	0.014410	0	0
ZFHX3	463	broad.mit.edu	37	16	72991913	72991913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:72991913G>A	ENST00000268489.5	-	2	2804	c.2132C>T	c.(2131-2133)cCc>cTc	p.P711L	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	711					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGCCAGCCGGGGGTGGGGCTG	0.582000													38	92					0	0	0.023175	0	0
IFRD2	7866	broad.mit.edu	37	3	50326110	50326110	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:50326110G>A	ENST00000436390.1	-	13	1553	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	IFRD2_ENST00000417626.2_Silent_p.F352F|IFRD2_ENST00000429673.2_Silent_p.F416F|IFRD2_ENST00000336089.4_Silent_p.F518F			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	416							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCTCAAAGCCGAAGCGCACTA	0.607000													12	19					0	0	0.013537	0	0
PLCH1	23007	broad.mit.edu	37	3	155200622	155200622	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:155200622T>C	ENST00000460012.1	-	23	3460	c.3103A>G	c.(3103-3105)Aat>Gat	p.N1035D	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.N1035D|PLCH1_ENST00000334686.6_Missense_Mutation_p.N1035D|PLCH1_ENST00000340059.7_Missense_Mutation_p.N1073D			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1073					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCTGGCAATTGCTTGTGGCA	0.522000													45	148					0	0	0.013114	0	0
CFAP54	144535	broad.mit.edu	37	12	97136274	97136274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:97136274G>A	ENST00000524981.3	+	19	2482	c.2482G>A	c.(2482-2484)Gaa>Aaa	p.E828K				Q6ZTY8	CL063_HUMAN		802										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AAATGCCCGAGAATATTTCAA	0.353000													12	28					0	0	0.010729	0	0
ABCA13	154664	broad.mit.edu	37	7	48392067	48392067	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:48392067C>T	ENST00000435803.1	+	31	10695	c.10671C>T	c.(10669-10671)ccC>ccT	p.P3557P		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3557					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						CCCCTTACCCCTGCCATACCA	0.557000													4	16					0	0	0.009096	0	0
SLC17A7	57030	broad.mit.edu	37	19	49933840	49933840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:49933840G>A	ENST00000221485.3	-	12	1790	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	SLC17A7_ENST00000600601.1_Missense_Mutation_p.S473F|SLC17A7_ENST00000543531.1_Missense_Mutation_p.S528F	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	540	Pro-rich.				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGCCCCATAGGAGGGCGGGGG	0.652000													13	34					0	0	0.016723	0	0
TENM1	10178	broad.mit.edu	37	X	123775804	123775804	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:123775804G>A	ENST00000422452.2	-	11	1977	c.1914C>T	c.(1912-1914)atC>atT	p.I638I	TENM1_ENST00000371130.3_Silent_p.I638I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTTTTACACAGATGCCATGGT	0.488000													93	66					0	0	0.014410	0	0
NUCKS1	64710	broad.mit.edu	37	1	205696889	205696889	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:205696889G>A	ENST00000367142.4	-	3	414	c.112C>T	c.(112-114)Cga>Tga	p.R38*		NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	38						nucleus				endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GGAGATGATCGAATTTTCTTA	0.363000													10	41					0	0	0.010729	0	0
ABCA7	10347	broad.mit.edu	37	19	1054604	1054604	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:1054604C>T	ENST00000263094.6	+	28	3993	c.3762C>T	c.(3760-3762)ctC>ctT	p.L1254L	ABCA7_ENST00000435683.2_Silent_p.L1116L|ABCA7_ENST00000433129.1_Silent_p.L1254L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1254					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTGGCCCTCGTGTTCAGCC	0.632000													28	27					0	0	0.034045	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26107905	26107905	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:26107905C>T	ENST00000338379.4	-	1	459	c.417G>A	c.(415-417)agG>agA	p.R139R		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	139					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						ACTTGGAGTCCCTGGATAAAA	0.453000													23	74					0	0	0.014323	0	0
POLR2I	5438	broad.mit.edu	37	19	36604965	36604965	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:36604965G>A	ENST00000221859.4	-	5	756	c.267C>T	c.(265-267)tgC>tgT	p.C89C		NM_006233.4	NP_006224.1	P36954	RPB9_HUMAN	polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa	89					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCTTGTGGCCGCACCTGAGAG	0.607000											OREG0025437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	151					0	0	0.021553	0	0
IP6K3	117283	broad.mit.edu	37	6	33694609	33694609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:33694609C>T	ENST00000451316.1	-	5	1023	c.488G>A	c.(487-489)gGa>gAa	p.G163E	IP6K3_ENST00000293756.4_Missense_Mutation_p.G163E	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	163					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						AACCTGGTTTCCGTTGGTGTC	0.637000													34	94					0	0	0.019004	0	0
BTNL8	79908	broad.mit.edu	37	5	180335629	180335629	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:180335629G>A	ENST00000231229.4	+	2	327	c.93G>A	c.(91-93)ttG>ttA	p.L31L	BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Silent_p.L31L|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Silent_p.L31L	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	31	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCAGGCCTTGGTGGGGGAGG	0.547000													7	75					0	0	0.004482	0	0
DNAH3	55567	broad.mit.edu	37	16	21048133	21048133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:21048133G>A	ENST00000261383.3	-	35	4987	c.4988C>T	c.(4987-4989)cCa>cTa	p.P1663L	DNAH3_ENST00000415178.1_Missense_Mutation_p.P1663L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1663					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTCTGGCTTTGGAAGAACAAC	0.328000													20	30					0	0	0.012319	0	0
VPS13D	55187	broad.mit.edu	37	1	12326959	12326959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:12326959C>T	ENST00000358136.3	+	14	1746	c.1616C>T	c.(1615-1617)tCt>tTt	p.S539F	VPS13D_ENST00000356315.4_Missense_Mutation_p.S539F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	539					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTAGCAGAGTCTCTTCCTCGA	0.358000													20	15					0	0	0.010504	0	0
GRIK4	2900	broad.mit.edu	37	11	120838011	120838011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:120838011G>A	ENST00000527524.2	+	19	2661	c.2374G>A	c.(2374-2376)Gag>Aag	p.E792K	GRIK4_ENST00000438375.2_Missense_Mutation_p.E792K			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	792					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GTGCCCCAAGGAGGAAGATCA	0.532000													12	20					0	0	0.024245	0	0
TTN	7273	broad.mit.edu	37	2	179568878	179568878	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:179568878G>A	ENST00000589042.1	-	106	30443	c.30219C>T	c.(30217-30219)atC>atT	p.I10073I	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Silent_p.I9756I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.I8829I|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9756	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGCACCTTCGATTCTGAGTT	0.468000													14	136					0	0	0.028581	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37727924	37727924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:37727924C>T	ENST00000524118.1	-	3	1939	c.1301G>A	c.(1300-1302)aGa>aAa	p.R434K	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000330843.4_Intron|RAB11FIP1_ENST00000523182.1_Intron|RAB11FIP1_ENST00000522727.1_Intron			Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	0					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			ACACCAGCTTCTCAGAGGACA	0.502000													3	9					0	0	0.004672	0	0
COL4A5	1287	broad.mit.edu	37	X	107865092	107865092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:107865092C>T	ENST00000328300.6	+	32	2981	c.2737C>T	c.(2737-2739)Cct>Tct	p.P913S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P913S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	913	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTGGGAATTCCTGGCAGGAG	0.423000									Alport syndrome with Diffuse Leiomyomatosis				18	15					0	0	0.012319	0	0
CRP	1401	broad.mit.edu	37	1	159683929	159683929	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:159683929C>T	ENST00000255030.5	-	2	165		c.e2-1		CRP_ENST00000368111.1_Splice_Site|CRP_ENST00000368110.1_Splice_Site|CRP_ENST00000437342.1_Intron|CRP_ENST00000368112.1_Splice_Site|CRP_ENST00000343919.2_Splice_Site	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related						acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CTCGACATGTCTGTGAGCCAG	0.438000													35	68					0	0	0.019004	0	0
NUP85	79902	broad.mit.edu	37	17	73214302	73214302	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:73214302C>T	ENST00000245544.4	+	7	569	c.498C>T	c.(496-498)ctC>ctT	p.L166L	NUP85_ENST00000447371.2_Intron|NUP85_ENST00000541827.1_Silent_p.L120L|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000579298.1_Silent_p.L166L|NUP85_ENST00000579324.1_Silent_p.L54L	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	166					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TCCTCCATCTCCTTGACTGGG	0.527000													33	44					0	0	0.012213	0	0
KCNB2	9312	broad.mit.edu	37	8	73850264	73850264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:73850264C>T	ENST00000523207.1	+	3	3262	c.2674C>T	c.(2674-2676)Cca>Tca	p.P892S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	892					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTTGTTTGCCCCAGAAATTCA	0.413000													14	72					0	0	0.020292	0	0
OR10K1	391109	broad.mit.edu	37	1	158436236	158436236	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:158436236G>A	ENST00000289451.2	+	1	965	c.885G>A	c.(883-885)aaG>aaA	p.K295K		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TGAGAAATAAGGAATTCAAAT	0.378000													17	48					0	0	0.006122	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431982	117431982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:117431982G>A	ENST00000160373.3	-	4	1359	c.1268C>T	c.(1267-1269)cCa>cTa	p.P423L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	423	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTGCATAGGTGGAGCTTGCGA	0.517000													60	195					0	0	0.014410	0	0
APOB	338	broad.mit.edu	37	2	21229486	21229486	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:21229486C>T	ENST00000233242.1	-	26	10381	c.10254G>A	c.(10252-10254)acG>acA	p.T3418T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3418	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCATATTTTTCGTGGTTAAGC	0.388000													224	492					0	0	0.014410	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				36	48					0	0	0.030466	0	0
DNA2	1763	broad.mit.edu	37	10	70227960	70227960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:70227960G>A	ENST00000399180.2	-	3	618	c.619C>T	c.(619-621)Cca>Tca	p.P207S	DNA2_ENST00000358410.3_Missense_Mutation_p.P121S|DNA2_ENST00000399179.2_Missense_Mutation_p.P121S			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	121					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AGCATGTCTGGATACAGAATC	0.388000													8	29					0	0	0.006214	0	0
ABI3BP	25890	broad.mit.edu	37	3	100527029	100527029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:100527029G>A	ENST00000471714.1	-	50	3788	c.3679C>T	c.(3679-3681)Cca>Tca	p.P1227S	ABI3BP_ENST00000383691.4_Missense_Mutation_p.P504S|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P550S			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	550						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGGATTCTTGGGCGTGGTGAT	0.393000													10	21					0	0	0.010729	0	0
TRIM28	10155	broad.mit.edu	37	19	59059687	59059687	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:59059687C>T	ENST00000253024.5	+	8	1417	c.1128C>T	c.(1126-1128)ctC>ctT	p.L376L	TRIM28_ENST00000341753.6_Silent_p.L294L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	376	Leucine zipper alpha helical coiled-coil region.|RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ACCGGGCCCTCAAGATGATTG	0.542000													21	64					0	0	0.010504	0	0
PRPH2	5961	broad.mit.edu	37	6	42690018	42690018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:42690018C>T	ENST00000230381.5	-	1	294	c.55G>A	c.(55-57)Ggg>Agg	p.G19R		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	19					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			AGCCAGAGCCCTTGGGCCAAC	0.532000													25	65					0	0	0.027356	0	0
CHAT	1103	broad.mit.edu	37	10	50856581	50856581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:50856581G>A	ENST00000395562.2	+	10	1533	c.1064G>A	c.(1063-1065)gGt>gAt	p.G355D	CHAT_ENST00000455728.2_Missense_Mutation_p.G319D|CHAT_ENST00000351556.3_Missense_Mutation_p.G319D|CHAT_ENST00000395559.2_Missense_Mutation_p.G319D|CHAT_ENST00000339797.1_Missense_Mutation_p.G319D|CHAT_ENST00000337653.2_Missense_Mutation_p.G437D	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	437					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GGCACCTGCGGTGTGGTGTGC	0.607000													9	26					0	0	0.006214	0	0
DOCK2	1794	broad.mit.edu	37	5	169474612	169474612	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:169474612C>T	ENST00000256935.8	+	40	4145	c.4065C>T	c.(4063-4065)ttC>ttT	p.F1355F	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.F847F|DOCK2_ENST00000540750.1_Silent_p.F416F	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1355	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCCCTCCTTCCTGCGGGTGA	0.537000													18	31					0	0	0.033300	0	0
SLC44A2	57153	broad.mit.edu	37	19	10736962	10736962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:10736962G>A	ENST00000586078.1	+	2	180	c.71G>A	c.(70-72)gGa>gAa	p.G24E	SLC44A2_ENST00000407327.4_Missense_Mutation_p.G22E|SLC44A2_ENST00000335757.5_Missense_Mutation_p.G24E	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	24					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	ACTTTCAAAGGACCCATTTAC	0.507000													31	109					0	0	0.021022	0	0
OR13C3	138803	broad.mit.edu	37	9	107298400	107298400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:107298400G>A	ENST00000374781.2	-	1	737	c.695C>T	c.(694-696)tCa>tTa	p.S232L		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GGCCATATTTGATATCACCAT	0.398000													22	60					0	0	0.014323	0	0
MUC16	94025	broad.mit.edu	37	19	9089206	9089206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:9089206G>A	ENST00000397910.4	-	1	2812	c.2609C>T	c.(2608-2610)tCg>tTg	p.S870L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	870	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						AGATGGATTCGAAGTTTCCTC	0.483000													14	37					0	0	0.020292	0	0
VWF	7450	broad.mit.edu	37	12	6103063	6103063	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:6103063C>T	ENST00000261405.5	-	37	6817	c.6563G>A	c.(6562-6564)gGg>gAg	p.G2188E		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2188					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)	AACGCAGACCCCGTTGGTCCG	0.557000													13	65					0	0	0.020292	0	0
ADCY1	107	broad.mit.edu	37	7	45743040	45743040	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:45743040C>T	ENST00000297323.7	+	15	2542	c.2520C>T	c.(2518-2520)ctC>ctT	p.L840L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	840					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)	TCTTCAACCTCCTGCCGGCCC	0.607000													22	83					0	0	0.012319	0	0
ENTPD7	57089	broad.mit.edu	37	10	101439504	101439504	+	Silent	SNP	T	T	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:101439504T>C	ENST00000370489.4	+	5	598	c.420T>C	c.(418-420)acT>acC	p.T140T		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	140						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TGGCAGACACTCCAGAACATG	0.443000													28	79					0	0	0.010818	0	0
ACSM2B	348158	broad.mit.edu	37	16	20566652	20566652	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:20566652T>A	ENST00000329697.6	-	4	703	c.535A>T	c.(535-537)Att>Ttt	p.I179F	ACSM2B_ENST00000567001.1_Missense_Mutation_p.I179F|ACSM2B_ENST00000565232.1_Missense_Mutation_p.I179F|ACSM2B_ENST00000565322.1_Missense_Mutation_p.I100F|ACSM2B_ENST00000414188.2_Missense_Mutation_p.I179F	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	179					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGTAGCTTAATTCTCAGAGAA	0.433000													65	127					0	0	0.014410	0	0
RTTN	25914	broad.mit.edu	37	18	67692000	67692000	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr18:67692000A>G	ENST00000255674.6	-	44	6194	c.5908T>C	c.(5908-5910)Tct>Cct	p.S1970P	RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1970							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGCTGCAGAGAAATTTGCATC	0.388000													17	39					0	0	0.007413	0	0
FAM131C	348487	broad.mit.edu	37	1	16390059	16390059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:16390059G>A	ENST00000375662.4	-	2	278	c.95C>T	c.(94-96)tCg>tTg	p.S32L	FAM131C_ENST00000494078.1_Intron	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	32										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGCGGCCCGAGGGCAGATC	0.617000													21	58					0	0	0.012319	0	0
SSR2	6746	broad.mit.edu	37	1	155984846	155984846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:155984846G>A	ENST00000295702.4	-	4	340	c.269C>T	c.(268-270)tCc>tTc	p.S90F	SSR2_ENST00000496742.1_Intron|SSR2_ENST00000480567.1_Missense_Mutation_p.S90F|SSR2_ENST00000529008.1_Intron	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	90					cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CACAGTGTGGGAGACATTGCT	0.498000													16	24					0	0	0.033300	0	0
NOTCH3	4854	broad.mit.edu	37	19	15281344	15281344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:15281344C>T	ENST00000263388.2	-	27	4987	c.4912G>A	c.(4912-4914)Gaa>Aaa	p.E1638K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1638					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACGCTGGGTTCTGGAGGCTCC	0.701000													5	16					0	0	0.021553	0	0
ARAP1	116985	broad.mit.edu	37	11	72408489	72408489	+	Silent	SNP	A	A	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:72408489A>G	ENST00000359373.5	-	21	3683	c.2832T>C	c.(2830-2832)ggT>ggC	p.G944G	ARAP1_ENST00000426523.1_Silent_p.G699G|ARAP1_ENST00000429686.1_Silent_p.G638G|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Silent_p.G699G|ARAP1_ENST00000393609.3_Silent_p.G944G|ARAP1_ENST00000393605.3_Silent_p.G704G|ARAP1_ENST00000455638.2_Silent_p.G944G			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	944					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCCCCAGCCAACCCATGAAGT	0.642000													122	154					0	0	0.014410	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249119065	249119065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:249119065C>T	ENST00000366472.5	-	2	1299	c.70G>A	c.(70-72)Gag>Aag	p.E24K	SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	24										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ACTTCATCCTCTACAACTTCA	0.612000													44	121					0	0	0.013114	0	0
PCDH15	65217	broad.mit.edu	37	10	55780154	55780154	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:55780154G>T	ENST00000373965.2	-	21	2964	c.2570C>A	c.(2569-2571)gCa>gAa	p.A857E	PCDH15_ENST00000395445.1_Missense_Mutation_p.A857E|PCDH15_ENST00000395430.1_Missense_Mutation_p.A850E|PCDH15_ENST00000320301.6_Missense_Mutation_p.A850E|PCDH15_ENST00000395432.2_Missense_Mutation_p.A813E|PCDH15_ENST00000437009.1_Missense_Mutation_p.A779E|PCDH15_ENST00000395433.1_Missense_Mutation_p.A828E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.A850E|PCDH15_ENST00000395438.1_Missense_Mutation_p.A850E|PCDH15_ENST00000373955.1_Missense_Mutation_p.A850E|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.A461E|PCDH15_ENST00000414778.1_Missense_Mutation_p.A855E|PCDH15_ENST00000373957.3_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	850	Cadherin 8.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGACACATTTGCTCCAAGGTC	0.388000										HNSCC(58;0.16)			17	122					0.00400662	0.00407285	0.028581	1	0
NALCN	259232	broad.mit.edu	37	13	101717761	101717761	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr13:101717761G>A	ENST00000251127.6	-	40	4680	c.4599C>T	c.(4597-4599)gtC>gtT	p.V1533V		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1533						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTACCTCAGGACATCATGGA	0.542000													32	96					0	0	0.017118	0	0
DSG1	1828	broad.mit.edu	37	18	28934899	28934899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr18:28934899C>T	ENST00000257192.4	+	15	2952	c.2740C>T	c.(2740-2742)Cct>Tct	p.P914S	RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.P273S|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	914					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TATCCATCATCCTAGAGAGTC	0.468000													61	123					0	0	0.014410	0	0
OR1M1	125963	broad.mit.edu	37	19	9204508	9204508	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:9204508G>A	ENST00000429566.3	+	1	654	c.588G>A	c.(586-588)agG>agA	p.R196R		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTGTGAATAGGATCTTCATCC	0.567000													44	84					0	0	0.010771	0	0
FREM2	341640	broad.mit.edu	37	13	39264487	39264487	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr13:39264487G>A	ENST00000280481.7	+	1	3222	c.3006G>A	c.(3004-3006)gaG>gaA	p.E1002E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1002					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)		TTCCAGCAGAGCAGTTTACTC	0.453000													46	57					0	0	0.014410	0	0
PLA2R1	22925	broad.mit.edu	37	2	160843733	160843733	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:160843733C>T	ENST00000283243.7	-	12	2177	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E	PLA2R1_ENST00000392771.1_Silent_p.E657E	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	657					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						AGGGCCATCTCTCTTCATACT	0.493000													24	35					0	0	0.018920	0	0
NPNT	255743	broad.mit.edu	37	4	106859538	106859538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:106859538C>T	ENST00000379987.2	+	5	682	c.466C>T	c.(466-468)Cct>Tct	p.P156S	NPNT_ENST00000453617.2_Missense_Mutation_p.P173S|NPNT_ENST00000514622.1_Missense_Mutation_p.P156S|NPNT_ENST00000506666.1_Missense_Mutation_p.P186S|NPNT_ENST00000427316.2_Missense_Mutation_p.P186S|NPNT_ENST00000305572.8_Missense_Mutation_p.P156S	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	156	EGF-like 3.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GTGCCCATCCCCTGGCCTGCA	0.522000													29	30					0	0	0.037714	0	0
ZFHX3	463	broad.mit.edu	37	16	72991912	72991912	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:72991912G>A	ENST00000268489.5	-	2	2805	c.2133C>T	c.(2131-2133)ccC>ccT	p.P711P	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	711					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTGCCAGCCGGGGGTGGGGCT	0.582000													37	95					0	0	0.021022	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51041860	51041860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr22:51041860C>T	ENST00000329492.3	+	3	497	c.380C>T	c.(379-381)tCc>tTc	p.S127F	MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.S127F|MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.S100F	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	127	JNK-binding domain (JBD).				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|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)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTATCCCCTCCCCTTCCGTG	0.697000													9	4					0	0	0.006214	0	0
WSCD2	9671	broad.mit.edu	37	12	108626526	108626526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:108626526G>A	ENST00000332082.4	+	8	1816	c.998G>A	c.(997-999)aGa>aAa	p.R333K	WSCD2_ENST00000547525.1_Missense_Mutation_p.R333K|WSCD2_ENST00000549903.1_Missense_Mutation_p.R333K|WSCD2_ENST00000261400.3_Missense_Mutation_p.R333K			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	333						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGCATGGACAGAAGGTTCCTG	0.582000													13	37					0	0	0.020292	0	0
ZNF79	7633	broad.mit.edu	37	9	130206806	130206806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:130206806C>T	ENST00000342483.5	+	5	1233	c.827C>T	c.(826-828)cCc>cTc	p.P276L	ZNF79_ENST00000543471.1_Missense_Mutation_p.P252L	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GGAGAGAAGCCCTACAGATGC	0.532000													28	72					0	0	0.037714	0	0
SLC18A1	6570	broad.mit.edu	37	8	20004874	20004874	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:20004874C>T	ENST00000440926.1	-	16	1829	c.1359G>A	c.(1357-1359)aaG>aaA	p.K453K	SLC18A1_ENST00000519026.1_Silent_p.K421K|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000265808.7_Silent_p.K421K|SLC18A1_ENST00000276373.5_Silent_p.K453K	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	453					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		AACCGATGGCCTTTACAATGG	0.537000													13	18					0	0	0.028581	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307590	46307590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:46307590C>T	ENST00000221538.3	-	3	1715	c.1573G>A	c.(1573-1575)Gac>Aac	p.D525N	RSPH6A_ENST00000600188.1_Missense_Mutation_p.D261N|RSPH6A_ENST00000597055.1_Missense_Mutation_p.D525N	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	525	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CCCTCGAAGTCCGGGTTCTCC	0.657000													24	41					0	0	0.018920	0	0
TTN	7273	broad.mit.edu	37	2	179568880	179568880	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:179568880T>A	ENST00000589042.1	-	106	30441	c.30217A>T	c.(30217-30219)Atc>Ttc	p.I10073F	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I9756F|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I8829F|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9756	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACCTTCGATTCTGAGTTCT	0.473000													13	143					0	0	0.028581	0	0
PAX3	5077	broad.mit.edu	37	2	223161826	223161826	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:223161826G>A	ENST00000350526.4	-	2	328	c.192C>T	c.(190-192)caC>caT	p.H64H	PAX3_ENST00000258387.5_Silent_p.H64H|PAX3_ENST00000409828.3_Silent_p.H64H|PAX3_ENST00000336840.6_Silent_p.H64H|PAX3_ENST00000392070.2_Silent_p.H64H|PAX3_ENST00000392069.2_Silent_p.H64H|PAX3_ENST00000409551.3_Silent_p.H64H|PAX3_ENST00000344493.4_Silent_p.H64H	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	64	Paired.		Missing (in WS1).		apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGATGCCGTGGTGGGCCATCT	0.657000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						5	14					0	0	0.021553	0	0
TBX4	9496	broad.mit.edu	37	17	59557575	59557575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:59557575G>A	ENST00000393853.4	+	8	1079	c.916G>A	c.(916-918)Gag>Aag	p.E306K	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Missense_Mutation_p.E306K			P57082	TBX4_HUMAN	T-box 4	306					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTACCAGCACGAGAACGGGGC	0.637000													31	86					0	0	0.012213	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33091980	33091980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr13:33091980G>A	ENST00000267068.3	-	6	1875	c.1711C>T	c.(1711-1713)Ctt>Ttt	p.L571F	N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	571										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TGTGAGCCAAGAGAGCCTCCC	0.413000													16	21					0	0	0.008871	0	0
RHOH	399	broad.mit.edu	37	4	40245489	40245489	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:40245489G>A	ENST00000381799.4	+	3	1207	c.483G>A	c.(481-483)caG>caA	p.Q161Q	RHOH_ENST00000505618.1_Silent_p.Q161Q	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	161					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GAGTACAGCAGGTGTTTGAGT	0.557000													11	12					0	0	0.013537	0	0
GFRAL	389400	broad.mit.edu	37	6	55263984	55263984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:55263984C>T	ENST00000340465.2	+	7	1045	c.959C>T	c.(958-960)cCa>cTa	p.P320L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	320						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCAGATTATCCAACCCTGTCT	0.294000													3	23					0	0	0.009096	0	0
TGM3	7053	broad.mit.edu	37	20	2315889	2315889	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:2315889C>T	ENST00000381458.5	+	11	1833	c.1770C>T	c.(1768-1770)atC>atT	p.I590I		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	590					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AGCGGGACATCATCCTGGACA	0.602000													22	59					0	0	0.016522	0	0
CHAT	1103	broad.mit.edu	37	10	50856580	50856580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:50856580G>A	ENST00000395562.2	+	10	1532	c.1063G>A	c.(1063-1065)Ggt>Agt	p.G355S	CHAT_ENST00000455728.2_Missense_Mutation_p.G319S|CHAT_ENST00000351556.3_Missense_Mutation_p.G319S|CHAT_ENST00000395559.2_Missense_Mutation_p.G319S|CHAT_ENST00000339797.1_Missense_Mutation_p.G319S|CHAT_ENST00000337653.2_Missense_Mutation_p.G437S	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	437					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CGGCACCTGCGGTGTGGTGTG	0.602000													9	25					0	0	0.006214	0	0
RABL6	55684	broad.mit.edu	37	9	139733722	139733722	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:139733722G>A	ENST00000371675.3	+	12	2082	c.1197G>A	c.(1195-1197)agG>agA	p.R399R	RABL6_ENST00000432842.2_Intron|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_Silent_p.R514R|RABL6_ENST00000371663.4_Silent_p.R515R					RAB, member RAS oncogene family-like 6																		CTCCCACGAGGACCGCAGCAC	0.657000													5	13					0	0	0.014758	0	0
CACNA1E	777	broad.mit.edu	37	1	181702639	181702639	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:181702639C>T	ENST00000526775.1	+	20	3123	c.2958C>T	c.(2956-2958)ccC>ccT	p.P986P	CACNA1E_ENST00000367567.4_Silent_p.P612P|CACNA1E_ENST00000358338.5_Silent_p.P937P|CACNA1E_ENST00000367573.2_Silent_p.P1005P|CACNA1E_ENST00000357570.5_Silent_p.P956P|CACNA1E_ENST00000367570.1_Silent_p.P1005P|CACNA1E_ENST00000360108.3_Silent_p.P986P	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1005					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						CTGACACCCCCCTAGTCCTGC	0.622000													14	40					0	0	0.024245	0	0
ADAM23	8745	broad.mit.edu	37	2	207482325	207482325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:207482325G>A	ENST00000264377.3	+	26	2801	c.2473G>A	c.(2473-2475)Gat>Aat	p.D825N	ADAM23_ENST00000374415.3_Missense_Mutation_p.D825N|ADAM23_ENST00000374416.1_Silent_p.S794S	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	825					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GAGAAGGTTCGATCCTACTCA	0.473000													13	19					0	0	0.020292	0	0
CCNA1	8900	broad.mit.edu	37	13	37006837	37006837	+	Missense_Mutation	SNP	G	G	A	rs113565588	byFrequency	TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr13:37006837G>A	ENST00000418263.1	+	1	429	c.79G>A	c.(79-81)Gga>Aga	p.G27R	CCNA1_ENST00000449823.1_Intron|CCNA1_ENST00000463403.1_Intron|CCNA1_ENST00000440264.1_Intron|CCNA1_ENST00000255465.4_Missense_Mutation_p.G27R	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	27					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CAGCTGGGAAGGACCGGGGCT	0.542000													5	14					0	0	0.014758	0	0
CDK13	8621	broad.mit.edu	37	7	40085609	40085609	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:40085609T>A	ENST00000181839.4	+	6	3133	c.2528T>A	c.(2527-2529)aTc>aAc	p.I843N	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.I843N	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	843	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TGTTCCAATATCCTTCTAAAT	0.328000													19	108					0	0	0.010504	0	0
TEAD2	8463	broad.mit.edu	37	19	49846519	49846519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:49846519G>A	ENST00000377214.4	-	9	1417	c.1055C>T	c.(1054-1056)tCt>tTt	p.S352F	TEAD2_ENST00000601519.1_Missense_Mutation_p.S352F|TEAD2_ENST00000311227.2_Missense_Mutation_p.S349F|TEAD2_ENST00000539846.1_Missense_Mutation_p.S221F|TEAD2_ENST00000598810.1_Missense_Mutation_p.S353F|TEAD2_ENST00000593945.1_Missense_Mutation_p.S353F			Q15562	TEAD2_HUMAN	TEA domain family member 2	349	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CTTGCCAAAAGAGCAGACCTT	0.597000													25	45					0	0	0.016522	0	0
COQ5	84274	broad.mit.edu	37	12	120942760	120942760	+	Silent	SNP	C	C	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:120942760C>A	ENST00000288532.6	-	5	748	c.708G>T	c.(706-708)ctG>ctT	p.L236L	COQ5_ENST00000445328.2_Silent_p.L162L	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	236					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCTGGTTTCAGCACCCGAT	0.473000													21	60					1.42536e-11	1.45614e-11	0.024334	1	0
MMP26	56547	broad.mit.edu	37	11	5010899	5010899	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:5010899C>T	ENST00000380390.1	+	3	337	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L	MMP26_ENST00000300762.1_Silent_p.L41L|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	41					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCAATTTTTCCTGACCAAGAA	0.463000													9	11					0	0	0.008291	0	0
NMD3	51068	broad.mit.edu	37	3	160967344	160967344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:160967344G>A	ENST00000460469.1	+	13	1761	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	NMD3_ENST00000351193.2_Missense_Mutation_p.E436K|NMD3_ENST00000472947.1_Missense_Mutation_p.E436K			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	436	Necessary for the nuclear export of the 60S ribosomal subunit.				protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TACAGATGATGAAAGGTCTCG	0.343000													3	13					0	0	0.004672	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345634	135345634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:135345634C>T	ENST00000463117.2	+	6	766	c.494C>T	c.(493-495)cCt>cTt	p.P165L	CYP2E1_ENST00000480558.1_3'UTR|CYP2E1_ENST00000252945.3_Missense_Mutation_p.P165L|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	165					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|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			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GTAGGCCAGCCTTTCGACCCC	0.557000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				25	71					0	0	0.034045	0	0
BRCA2	675	broad.mit.edu	37	13	32918773	32918773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr13:32918773C>T	ENST00000544455.1	+	12	7147	c.6920C>T	c.(6919-6921)tCa>tTa	p.S2307L	BRCA2_ENST00000380152.3_Missense_Mutation_p.S2307L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2307					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)		TTAAAGGCTTCAAAAAGCACT	0.308000			"""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)			9	16					0	0	0.006214	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52800411	52800411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:52800411G>A	ENST00000287727.3	+	15	3813	c.3641G>A	c.(3640-3642)gGa>gAa	p.G1214E	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.G1155E|ZFYVE9_ENST00000469134.1_3'UTR|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.G1214E	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1214					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TCCTCTTCTGGATACCTTGCC	0.403000													20	66					0	0	0.016522	0	0
ZNF786	136051	broad.mit.edu	37	7	148768588	148768588	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:148768588A>T	ENST00000316286.9	-	3	1290	c.1018T>A	c.(1018-1020)Tcc>Acc	p.S340T	ZNF786_ENST00000451334.3_Missense_Mutation_p.S389T|ZNF786_ENST00000491431.1_Missense_Mutation_p.S426T			Q8N393	ZN786_HUMAN	zinc finger protein 786	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTCCTGCAGGAGAACGGTCTC	0.617000													8	43					0	0	0.004482	0	0
MFSD4	148808	broad.mit.edu	37	1	205553164	205553164	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:205553164C>T	ENST00000367147.4	+	4	865	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	MFSD4_ENST00000536357.1_Silent_p.L171L|MFSD4_ENST00000539267.1_Silent_p.L258L	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	258					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)			GCCCCTGCTTCTGTCTGCTGA	0.602000													26	48					0	0	0.021523	0	0
PRTG	283659	broad.mit.edu	37	15	55930812	55930812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:55930812C>T	ENST00000389286.4	-	14	2434	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	796	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CACATGTAATCGAACGGCAAA	0.393000													13	22					0	0	0.024245	0	0
POLR3K	51728	broad.mit.edu	37	16	101619	101619	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:101619C>T	ENST00000293860.5	-	2	179	c.138G>A	c.(136-138)ctG>ctA	p.L46L		NM_016310.3	NP_057394.2	Q9Y2Y1	RPC10_HUMAN	polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa	46					innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CCACTTCTTTCAGTTTTGGGT	0.438000													20	39					0	0	0.014323	0	0
C1orf173	127254	broad.mit.edu	37	1	75038358	75038358	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:75038358G>A	ENST00000326665.5	-	14	3254	c.3036C>T	c.(3034-3036)agC>agT	p.S1012S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1012	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTCCTCAGGGCTGCCCTCCG	0.517000													22	29					0	0	0.010504	0	0
FMNL2	114793	broad.mit.edu	37	2	153481964	153481964	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:153481964A>G	ENST00000288670.9	+	16	2217	c.1850A>G	c.(1849-1851)aAg>aGg	p.K617R	FMNL2_ENST00000497192.1_3'UTR|FMNL2_ENST00000475377.2_5'UTR	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	617	FH2.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GTGAAAATTAAGAAGCCAATC	0.418000													12	24					0	0	0.010729	0	0
CMTR2	55783	broad.mit.edu	37	16	71319448	71319448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:71319448G>A	ENST00000338099.5	-	3	712	c.376C>T	c.(376-378)Cca>Tca	p.P126S	FTSJD1_ENST00000434935.2_Missense_Mutation_p.P126S			Q8IYT2	FTSJ1_HUMAN		126						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGAATAAGTGGAAAGCTGCAC	0.378000													19	47					0	0	0.010504	0	0
POTEF	728378	broad.mit.edu	37	2	130832617	130832617	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:130832617G>A	ENST00000357462.5	-	15	2521	c.2428C>T	c.(2428-2430)Ctg>Ttg	p.L810L	POTEF_ENST00000409914.2_Silent_p.L810L			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	810	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTAGGGTTCAGGGTGGCCTCG	0.587000													64	143					0	0	0.014410	0	0
LINGO4	339398	broad.mit.edu	37	1	151773710	151773710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:151773710C>T	ENST00000368820.3	-	2	2408	c.1471G>A	c.(1471-1473)Ggg>Agg	p.G491R		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	491	Ig-like C2-type.					integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTCATTCCCAGCGACATTG	0.592000													66	165					0	0	0.014410	0	0
ARIH2	10425	broad.mit.edu	37	3	49002404	49002404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:49002404C>T	ENST00000356401.4	+	5	715	c.376C>T	c.(376-378)Cca>Tca	p.P126S	ARIH2_ENST00000449376.1_Missense_Mutation_p.P126S|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	126					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P126A(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCAGCCTAATCCATCAAAACA	0.398000													9	42					0	0	0.006214	0	0
ARAP2	116984	broad.mit.edu	37	4	36122870	36122870	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:36122870C>T	ENST00000303965.4	-	23	4314	c.3825G>A	c.(3823-3825)acG>acA	p.T1275T		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1275	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTGTCCCTTCGTTTGAAACA	0.338000													5	21					0	0	0.014758	0	0
ZNF12	7559	broad.mit.edu	37	7	6731942	6731942	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:6731942G>A	ENST00000405858.1	-	5	1172	c.631C>T	c.(631-633)Cgt>Tgt	p.R211C	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.R173C|ZNF12_ENST00000404360.1_Missense_Mutation_p.R137C	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	211					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TCCAAAATACGAATTTTCTGA	0.328000													10	32					0	0	0.008291	0	0
NRXN1	9378	broad.mit.edu	37	2	50280446	50280446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:50280446C>T	ENST00000404971.1	-	22	5550	c.4211G>A	c.(4210-4212)aGa>aAa	p.R1404K	NRXN1_ENST00000342183.5_Missense_Mutation_p.R299K|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1364K|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1356K|NRXN1_ENST00000406316.2_Missense_Mutation_p.R1334K|NRXN1_ENST00000401710.1_Missense_Mutation_p.R352K|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1334K|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1356K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1334					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)			CTTTCCTCTTCTGGCTGTGCT	0.453000													37	88					0	0	0.027894	0	0
DGKI	9162	broad.mit.edu	37	7	137282634	137282634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:137282634C>T	ENST00000453654.1	-	12	909	c.370G>A	c.(370-372)Gta>Ata	p.V124I	DGKI_ENST00000446122.1_Missense_Mutation_p.V424I|DGKI_ENST00000424189.2_Missense_Mutation_p.V424I|DGKI_ENST00000288490.5_Missense_Mutation_p.V424I			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	424					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGATTTGGTACTTTCCTATAC	0.418000													8	37					0	0	0.003080	0	0
DYSF	8291	broad.mit.edu	37	2	71742867	71742867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:71742867C>T	ENST00000258104.3	+	7	1055	c.778C>T	c.(778-780)Cca>Tca	p.P260S	DYSF_ENST00000410020.3_Missense_Mutation_p.P292S|DYSF_ENST00000409582.3_Missense_Mutation_p.P291S|DYSF_ENST00000410041.1_Missense_Mutation_p.P292S|DYSF_ENST00000409366.1_Missense_Mutation_p.P261S|DYSF_ENST00000394120.2_Missense_Mutation_p.P261S|DYSF_ENST00000409744.1_Missense_Mutation_p.P261S|DYSF_ENST00000429174.2_Missense_Mutation_p.P260S|DYSF_ENST00000409762.1_Missense_Mutation_p.P291S|DYSF_ENST00000413539.2_Missense_Mutation_p.P291S|DYSF_ENST00000409651.1_Missense_Mutation_p.P292S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	260	C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGGAAACAGCCCACTCTTCAA	0.597000													24	64					0	0	0.014323	0	0
ICOSLG	23308	broad.mit.edu	37	21	45655373	45655373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr21:45655373G>A	ENST00000407780.3	-	4	606	c.479C>T	c.(478-480)tCc>tTc	p.S160F	ICOSLG_ENST00000344330.4_Missense_Mutation_p.S160F|ICOSLG_ENST00000400379.3_Missense_Mutation_p.S160F|ICOSLG_ENST00000400377.3_Missense_Mutation_p.S43F			O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	160	Ig-like C2-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GCCGTTTATGGATGTACACGT	0.567000													41	85					0	0	0.033182	0	0
SHANK2	22941	broad.mit.edu	37	11	70332254	70332254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:70332254C>T	ENST00000338508.4	-	32	4146	c.4147G>A	c.(4147-4149)Gaa>Aaa	p.E1383K	SHANK2_ENST00000423696.2_Missense_Mutation_p.E1003K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E786K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E787K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1003					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACCGCCTCTTCCATGGAGCCC	0.587000													20	22					0	0	0.010504	0	0
PCDH15	65217	broad.mit.edu	37	10	55912989	55912989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:55912989G>A	ENST00000373965.2	-	15	2070	c.1676C>T	c.(1675-1677)gCt>gTt	p.A559V	PCDH15_ENST00000395445.1_Missense_Mutation_p.A559V|PCDH15_ENST00000395430.1_Missense_Mutation_p.A552V|PCDH15_ENST00000320301.6_Missense_Mutation_p.A552V|PCDH15_ENST00000395432.2_Missense_Mutation_p.A515V|PCDH15_ENST00000437009.1_Missense_Mutation_p.A552V|PCDH15_ENST00000395433.1_Missense_Mutation_p.A530V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.A552V|PCDH15_ENST00000395438.1_Missense_Mutation_p.A552V|PCDH15_ENST00000373955.1_Missense_Mutation_p.A552V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.A552V|PCDH15_ENST00000409834.1_Missense_Mutation_p.A163V|PCDH15_ENST00000414778.1_Missense_Mutation_p.A557V|PCDH15_ENST00000373957.3_Missense_Mutation_p.A530V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	552	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.A557D(2)|p.A552D(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTCTCCCTGAGCCCCAACAAG	0.488000										HNSCC(58;0.16)			25	57					0	0	0.024334	0	0
ITGB4	3691	broad.mit.edu	37	17	73739906	73739906	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:73739906C>T	ENST00000200181.3	+	26	3262	c.3075C>T	c.(3073-3075)tcC>tcT	p.S1025S	ITGB4_ENST00000579662.1_Silent_p.S1025S|ITGB4_ENST00000339591.3_Silent_p.S1025S|ITGB4_ENST00000450894.3_Silent_p.S1025S|ITGB4_ENST00000449880.2_Silent_p.S1025S	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1025	Calx-beta.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCAGGTCTCCTACCGCACAC	0.697000													5	11					0	0	0.014758	0	0
HS1BP3	64342	broad.mit.edu	37	2	20838187	20838187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:20838187G>A	ENST00000402541.1	-	4	646	c.632C>T	c.(631-633)tCc>tTc	p.S211F	HS1BP3_ENST00000304031.3_Intron			Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	0					cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAACAACAGGAGACCAACCG	0.602000													10	20					0	0	0.008291	0	0
C10orf71	118461	broad.mit.edu	37	10	50532253	50532253	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:50532253G>A	ENST00000374144.3	+	3	1951	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	C10orf71_ENST00000323868.4_Missense_Mutation_p.E555K			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	555										endometrium(1)	1						CCCTCCAAATGAGCTTTCTAA	0.522000													14	38					0	0	0.024245	0	0
GATA2	2624	broad.mit.edu	37	3	128199922	128199922	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:128199922G>A	ENST00000341105.2	-	6	1714	c.1383C>T	c.(1381-1383)ccC>ccT	p.P461P	GATA2_ENST00000430265.2_Silent_p.P447P|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Silent_p.P461P	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	461					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGCTGGAGGAGGGGTGGATGG	0.682000			Mis		AML(CML blast transformation)								18	33					0	0	0.033300	0	0
NAALAD2	10003	broad.mit.edu	37	11	89885592	89885592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:89885592G>A	ENST00000534061.1	+	6	966	c.736G>A	c.(736-738)Gga>Aga	p.G246R	NAALAD2_ENST00000525171.1_Missense_Mutation_p.G246R|NAALAD2_ENST00000375944.3_Missense_Mutation_p.G246R|NAALAD2_ENST00000321955.4_Missense_Mutation_p.G246R	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	246					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AGCCCAGAGAGGAAATGTGTT	0.458000													22	28					0	0	0.016522	0	0
MUC17	140453	broad.mit.edu	37	7	100696355	100696355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:100696355G>A	ENST00000306151.4	+	10	13256	c.13192G>A	c.(13192-13194)Ggg>Agg	p.G4398R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4398						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)					CGTGGGGGCAGGGGTCGTGCT	0.592000													35	34					0	0	0.019004	0	0
C1orf109	54955	broad.mit.edu	37	1	38155520	38155520	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:38155520C>T	ENST00000358011.4	-	2	222	c.33G>A	c.(31-33)caG>caA	p.Q11Q	C1orf109_ENST00000494120.1_5'UTR	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109	11										lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				TCAGCGCCTCCTGCACGGCAA	0.597000													5	42					0	0	0.021553	0	0
RABL6	55684	broad.mit.edu	37	9	139733721	139733721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:139733721G>A	ENST00000371675.3	+	12	2081	c.1196G>A	c.(1195-1197)aGg>aAg	p.R399K	RABL6_ENST00000432842.2_Intron|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_Missense_Mutation_p.R514K|RABL6_ENST00000371663.4_Missense_Mutation_p.R515K					RAB, member RAS oncogene family-like 6																		GCTCCCACGAGGACCGCAGCA	0.657000													5	13					0	0	0.014758	0	0
TP63	8626	broad.mit.edu	37	3	189587118	189587118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:189587118C>T	ENST00000264731.3	+	9	1224	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	TP63_ENST00000392460.3_Missense_Mutation_p.R379C|TP63_ENST00000320472.5_Missense_Mutation_p.R379C|TP63_ENST00000392463.2_Missense_Mutation_p.R285C|TP63_ENST00000437221.1_Missense_Mutation_p.R285C|TP63_ENST00000392461.3_Missense_Mutation_p.R285C|TP63_ENST00000449992.1_Missense_Mutation_p.R200C|TP63_ENST00000354600.5_Missense_Mutation_p.R285C|TP63_ENST00000418709.2_Missense_Mutation_p.R379C|TP63_ENST00000456148.1_Missense_Mutation_p.R281C|TP63_ENST00000382063.4_Missense_Mutation_p.R294C|TP63_ENST00000440651.2_Missense_Mutation_p.R375C	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	379	Interaction with HIPK2.				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	p.R379C(1)		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)		ACCAGCGTTTCGTCAGAACAC	0.363000										HNSCC(45;0.13)			13	29					0	0	0.024245	0	0
NPAP1	23742	broad.mit.edu	37	15	24922173	24922173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:24922173G>A	ENST00000329468.2	+	1	1633	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GGATAAAACAGAGACCATGAC	0.527000													8	35					0	0	0.003080	0	0
BMP5	653	broad.mit.edu	37	6	55639005	55639005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:55639005C>T	ENST00000370830.3	-	4	1567	c.869G>A	c.(868-870)gGa>gAa	p.G290E	BMP5_ENST00000446683.2_Missense_Mutation_p.G290E	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	290					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCCTGTCTTCCCACAAGACC	0.423000													21	62					0	0	0.012319	0	0
SEPT8	23176	broad.mit.edu	37	5	132101113	132101113	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:132101113T>G	ENST00000296873.7	-	2	422	c.139A>C	c.(139-141)Atc>Ctc	p.I47L	SEPT8_ENST00000458488.2_Missense_Mutation_p.I47L|SEPT8_ENST00000378699.2_5'UTR|SEPT8_ENST00000448933.1_5'UTR|SEPT8_ENST00000378719.2_Missense_Mutation_p.I47L|SEPT8_ENST00000378721.4_Missense_Mutation_p.I47L|SEPT8_ENST00000378701.1_Missense_Mutation_p.I47L|SEPT8_ENST00000378706.1_Missense_Mutation_p.I47L	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	47					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACACAGAGGATGTTGAAGCTG	0.647000													40	77					0	0	0.030466	0	0
NOS2	4843	broad.mit.edu	37	17	26089889	26089889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:26089889G>A	ENST00000313735.6	-	22	2968	c.2735C>T	c.(2734-2736)tCc>tTc	p.S912F		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	912	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	ATCCCGGGAGGAGCTGATGGA	0.632000													6	10					0	0	0.021553	0	0
PIAS3	10401	broad.mit.edu	37	1	145580316	145580316	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:145580316C>T	ENST00000393045.2	+	6	888	c.798C>T	c.(796-798)ttC>ttT	p.F266F	PIAS3_ENST00000369299.3_Silent_p.F257F|PIAS3_ENST00000369298.1_Silent_p.F231F	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	266	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATCTGAGTTCGGACGGGTGA	0.567000													37	106					0	0	0.021022	0	0
EPB41L1	2036	broad.mit.edu	37	20	34782228	34782228	+	Silent	SNP	G	G	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:34782228G>C	ENST00000338074.2	+	12	1556	c.1395G>C	c.(1393-1395)cgG>cgC	p.R465R	EPB41L1_ENST00000441639.1_Silent_p.R403R|EPB41L1_ENST00000202028.5_Silent_p.R403R|EPB41L1_ENST00000373946.3_Silent_p.R434R|EPB41L1_ENST00000373941.1_Silent_p.R465R|EPB41L1_ENST00000373950.2_Silent_p.R368R	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	465					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGGGGCAACGGTCAGAGGCTG	0.602000													7	31					0	0	0.004482	0	0
SLC2A2	6514	broad.mit.edu	37	3	170715716	170715716	+	Silent	SNP	G	G	A	rs148414372		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:170715716G>A	ENST00000314251.3	-	11	1630	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	SLC2A2_ENST00000382808.4_Silent_p.F398F	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	517					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TAGCTCCTAGGAATTTCATTT	0.398000													22	85					0	0	0.016522	0	0
NUDT4	11163	broad.mit.edu	37	12	93793086	93793086	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:93793086C>T	ENST00000337179.5	+	5	917	c.477C>T	c.(475-477)tcC>tcT	p.S159S	NUDT4_ENST00000549992.1_Silent_p.S106S|NUDT4_ENST00000547014.1_Silent_p.S107S|NUDT4_ENST00000548662.1_Silent_p.S106S|NUDT4_ENST00000415493.2_Silent_p.S158S	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	158					calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						CAGTCCCTTCCCTTCCGGATA	0.473000													22	227					0	0	0.024334	0	0
PLCL1	5334	broad.mit.edu	37	2	198948543	198948543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:198948543C>T	ENST00000428675.1	+	2	700	c.302C>T	c.(301-303)tCg>tTg	p.S101L	PLCL1_ENST00000437704.2_Missense_Mutation_p.S3L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	101	Interaction with PPP1C.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGCATGCCATCGGAAAAGAAA	0.383000													13	18					0	0	0.024245	0	0
BCR	613	broad.mit.edu	37	22	23653911	23653911	+	Silent	SNP	C	C	T	rs141798488	byFrequency	TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr22:23653911C>T	ENST00000305877.8	+	19	3961	c.3210C>T	c.(3208-3210)atC>atT	p.I1070I	BCR_ENST00000359540.3_Silent_p.I1026I|BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1070	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TGCCCTACATCGTGCGCCAGT	0.617000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								10	15					0	0	0.008291	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	40					0	0	0.014758	0	0
PAPD4	167153	broad.mit.edu	37	5	78964810	78964810	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:78964810C>T	ENST00000453514.1	+	12	1860	c.1167C>T	c.(1165-1167)gaC>gaT	p.D389D	PAPD4_ENST00000296783.3_Silent_p.D389D|PAPD4_ENST00000428308.2_Silent_p.D389D|PAPD4_ENST00000504233.1_Silent_p.D346D|PAPD4_ENST00000423041.2_Silent_p.D385D	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	389	PAP-associated.				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		ACCTTGGGGACCTCTTACTGG	0.373000													45	76					0	0	0.014410	0	0
CLCN5	1184	broad.mit.edu	37	X	49845367	49845367	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:49845367C>T	ENST00000376088.3	+	8	1361	c.720C>T	c.(718-720)atC>atT	p.I240I	CLCN5_ENST00000376108.3_Silent_p.I170I|CLCN5_ENST00000376091.3_Silent_p.I240I|CLCN5_ENST00000307367.2_Silent_p.I170I	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	170					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GCTCTGGAATCCCTGAGGTGA	0.388000													29	12					0	0	0.019004	0	0
FAM71B	153745	broad.mit.edu	37	5	156590534	156590534	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:156590534C>T	ENST00000302938.4	-	2	837	c.742G>A	c.(742-744)Gct>Act	p.A248T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	248	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATGGAGAAGCCGCACTAGCC	0.582000													22	161					0	0	0.014323	0	0
ZNF777	27153	broad.mit.edu	37	7	149152452	149152452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:149152452G>A	ENST00000247930.4	-	2	985	c.662C>T	c.(661-663)gCc>gTc	p.A221V		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CTCGCAGTCGGCTATCTTCTT	0.612000													88	75					0	0	0.014410	0	0
C7	730	broad.mit.edu	37	5	40958182	40958182	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:40958182G>A	ENST00000313164.9	+	11	1667	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	436	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTGCCTCTGTGAAAAAACTAT	0.408000													15	17					0	0	0.024245	0	0
SOX10	6663	broad.mit.edu	37	22	38370098	38370098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr22:38370098G>A	ENST00000396884.2	-	4	1087	c.805C>T	c.(805-807)Cct>Tct	p.P269S	SOX10_ENST00000360880.2_Missense_Mutation_p.P269S|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	269						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					TCGATGTGAGGCTTCCCGCCC	0.622000													84	88					0	0	0.014410	0	0
HBD	3045	broad.mit.edu	37	11	5255394	5255394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:5255394C>T	ENST00000380299.3	-	2	356	c.142G>A	c.(142-144)Gat>Aat	p.D48N	HBD_ENST00000292901.3_Missense_Mutation_p.D48N	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	48			D -> V (in Parkville; dbSNP:rs34977235).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGACAGATCCCCAAAGGAC	0.522000													31	35					0	0	0.021022	0	0
SH2D3A	10045	broad.mit.edu	37	19	6755166	6755166	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:6755166G>A	ENST00000245908.6	-	5	926	c.657C>T	c.(655-657)ttC>ttT	p.F219F	SH2D3A_ENST00000437152.3_Silent_p.F97F|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	219					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CAGGCAGTTCGAAGGAGGGTG	0.657000													88	225					0	0	0.014410	0	0
TNK1	8711	broad.mit.edu	37	17	7292014	7292014	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:7292014G>A	ENST00000570896.1	+	12	2213	c.1767G>A	c.(1765-1767)aaG>aaA	p.K589K	TNK1_ENST00000576812.1_Silent_p.K594K|TNK1_ENST00000311668.2_Silent_p.K589K			Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	594					protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				TGCAGAGGAAGATTATGGAGG	0.577000													13	28					0	0	0.020292	0	0
SNORD113-6	767566	broad.mit.edu	37	14	101405923	101405923	+	RNA	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr14:101405923G>A	ENST00000363345.2	+	0	31					NR_003234.1																						TGGGGTTTCTGAAACAACATT	0.363000													10	13					0	0	0.016723	0	0
ZNF672	79894	broad.mit.edu	37	1	249142580	249142580	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:249142580C>T	ENST00000306562.3	+	4	1853	c.1107C>T	c.(1105-1107)tgC>tgT	p.C369C		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CACACAAATGCCCCGAGTGCA	0.637000													5	27					0	0	0.014758	0	0
CUX1	1523	broad.mit.edu	37	7	101877387	101877387	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:101877387C>T	ENST00000360264.3	+	22	3542	c.3522C>T	c.(3520-3522)gaC>gaT	p.D1174D	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Silent_p.D1005D|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000550008.2_Silent_p.D1107D|CUX1_ENST00000292535.7_Silent_p.D1163D|CUX1_ENST00000549414.2_Silent_p.D1141D|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000546411.2_Silent_p.D1061D|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1163					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTGTCTCTGACCTCCTTGCCC	0.557000													50	57					0	0	0.014410	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869684	151869684	+	Missense_Mutation	SNP	G	G	A	rs140660790	byFrequency	TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:151869684G>A	ENST00000329342.5	+	3	599	c.374G>A	c.(373-375)cGa>cAa	p.R125Q		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	125	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAAGTATCGAGCCAGGGAG	0.532000													46	36					0	0	0.014410	0	0
COPE	11316	broad.mit.edu	37	19	19016389	19016389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:19016389C>T	ENST00000600932.1	-	6	593	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	COPE_ENST00000598969.1_5'UTR|COPE_ENST00000351079.4_Missense_Mutation_p.A114T|COPE_ENST00000349893.4_Missense_Mutation_p.A165T|COPE_ENST00000262812.4_Missense_Mutation_p.A165T			O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	165					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	binding|structural molecule activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						GCTCACCGGGCGAGGTCCAGG	0.662000													14	36					0	0	0.020292	0	0
CFTR	1080	broad.mit.edu	37	7	117230474	117230474	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:117230474G>A	ENST00000003084.6	+	13	1879	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	CFTR_ENST00000454343.1_Missense_Mutation_p.E522K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	583	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGTTTTAACAGAAAAAGAAAT	0.284000									Cystic Fibrosis				22	101					0	0	0.018920	0	0
SLC24A3	57419	broad.mit.edu	37	20	19698203	19698203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:19698203C>T	ENST00000328041.6	+	16	1948	c.1751C>T	c.(1750-1752)tCc>tTc	p.S584F		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	584						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGATCTACTCCGTAGGCTTG	0.502000													91	204					0	0	0.014410	0	0
TUBA1B	10376	broad.mit.edu	37	12	49521861	49521861	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:49521861C>T	ENST00000336023.5	-	4	1330	c.1236G>A	c.(1234-1236)ggG>ggA	p.G412G	RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	412					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						CTTCCTCCATCCCCTCACCCA	0.552000													44	98					0	0	0.014410	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664560	169664560	+	RNA	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:169664560G>A	ENST00000483289.2	-	0	2734				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						TATAGCTGGAGGGACCTCACT	0.512000													9	13					0	0	0.004482	0	0
NRG1	3084	broad.mit.edu	37	8	32617780	32617780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:32617780C>T	ENST00000338921.4	+	12	1665	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F	NRG1_ENST00000405005.2_Missense_Mutation_p.S375F|NRG1_ENST00000356819.4_Missense_Mutation_p.S380F|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.S372F|NRG1_ENST00000521670.1_Missense_Mutation_p.S375F|NRG1_ENST00000539990.1_Missense_Mutation_p.S218F|NRG1_ENST00000287845.5_Missense_Mutation_p.S346F|NRG1_ENST00000287840.5_Missense_Mutation_p.S375F|NRG1_ENST00000519301.1_Missense_Mutation_p.S325F|NRG1_ENST00000523079.1_Missense_Mutation_p.S372F			Q02297	NRG1_HUMAN	neuregulin 1	375					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GTGATGTCATCCGTAGAAAAC	0.527000													55	73					0	0	0.014410	0	0
LRP1B	53353	broad.mit.edu	37	2	142567968	142567968	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:142567968G>A	ENST00000389484.3	-	2	1056	c.85C>T	c.(85-87)Cag>Tag	p.Q29*	LRP1B_ENST00000486364.1_5'UTR	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	29					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)		CACAACTGCTGATCTGAAAAT	0.423000										TSP Lung(27;0.18)			12	15					0	0	0.010729	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879284	144879284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:144879284G>A	ENST00000369359.4	-	30	4612	c.4574C>T	c.(4573-4575)tCg>tTg	p.S1525L	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1525L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1389L|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1389L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1345L|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1389					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAGACTAGACGAATAATCACT	0.517000			T	PDGFRB	MPD								36	272					0	0	0.019004	0	0
MTSS1	9788	broad.mit.edu	37	8	125570059	125570059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:125570059C>T	ENST00000518547.1	-	11	1566	c.1093G>A	c.(1093-1095)Ggt>Agt	p.G365S	MTSS1_ENST00000354184.4_Intron|MTSS1_ENST00000524090.1_Missense_Mutation_p.G255S|MTSS1_ENST00000431961.2_Intron|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Intron|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000325064.5_Missense_Mutation_p.G369S|MTSS1_ENST00000395508.2_Missense_Mutation_p.G139S	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	365					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGGCCTGCACCCGTGGGCCCC	0.522000													3	22					0	0	0.014758	0	0
FMO2	2327	broad.mit.edu	37	1	171173094	171173094	+	Missense_Mutation	SNP	C	C	T	rs145420492		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:171173094C>T	ENST00000441535.1	+	6	835	c.718C>T	c.(718-720)Cgt>Tgt	p.R240C	RP1-127D3.4_ENST00000422841.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.R240C|RP1-127D3.4_ENST00000445909.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	240					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.R240C(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACCCGGTTTCGTTCTATGCT	0.488000													16	34					0	0	0.007413	0	0
LEMD2	221496	broad.mit.edu	37	6	33744975	33744975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:33744975G>A	ENST00000293760.5	-	7	1217	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	LEMD2_ENST00000508327.1_Missense_Mutation_p.R98W|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	400						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TTTCGCCACCGATATTTTAGG	0.488000													64	174					0	0	0.014410	0	0
NEK10	152110	broad.mit.edu	37	3	27183064	27183064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:27183064C>T	ENST00000429845.2	-	34	3412	c.3050G>A	c.(3049-3051)gGa>gAa	p.G1017E	NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000295720.6_Missense_Mutation_p.G329E|NEK10_ENST00000383770.3_Missense_Mutation_p.G272E|NEK10_ENST00000383771.4_Missense_Mutation_p.G319E			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	1017							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CACAGCAATTCCTGCTGATGC	0.343000													35	51					0	0	0.017118	0	0
DYTN	391475	broad.mit.edu	37	2	207558009	207558009	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:207558009G>A	ENST00000452335.2	-	9	986	c.870C>T	c.(868-870)acC>acT	p.T290T		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	290						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TGTTTCTGAGGGTCCTGAAGA	0.493000													5	43					0	0	0.014758	0	0
MED12L	116931	broad.mit.edu	37	3	151148112	151148112	+	Missense_Mutation	SNP	C	C	T	rs147600909	by1000genomes	TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:151148112C>T	ENST00000474524.1	+	42	6367	c.6329C>T	c.(6328-6330)aCc>aTc	p.T2110I	MED12L_ENST00000273432.4_Missense_Mutation_p.T1774I	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2110	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGCAGCAGACCCAGCAGCAG	0.542000													21	76					0	0	0.018920	0	0
MYO10	4651	broad.mit.edu	37	5	16701681	16701681	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:16701681G>A	ENST00000513610.1	-	25	3277	c.2823C>T	c.(2821-2823)ttC>ttT	p.F941F	MYO10_ENST00000427430.2_Silent_p.F298F|MYO10_ENST00000274203.9_Silent_p.F298F|MYO10_ENST00000505695.1_Silent_p.F280F|MYO10_ENST00000515803.1_Silent_p.F280F	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	941					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GGGACTCGAGGAACTCCTGGG	0.637000													8	22					0	0	0.008291	0	0
HTR3B	9177	broad.mit.edu	37	11	113803741	113803741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:113803741G>A	ENST00000260191.2	+	6	879	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	HTR3B_ENST00000537778.1_Missense_Mutation_p.E197K	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	208					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CAGTGAGTGGGAACTTCTATC	0.473000													13	23					0	0	0.013537	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42854405	42854405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:42854405C>T	ENST00000455697.1	-	8	1987	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E568K|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E568K|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E568K|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E568K	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	568					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GTTTCCATCTCCTCAAAATTT	0.433000													33	63					0	0	0.013726	0	0
ABCB10	23456	broad.mit.edu	37	1	229676463	229676463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:229676463G>A	ENST00000344517.4	-	5	1135	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	365	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CCAAAAGCTCGAACAGTTCTT	0.423000													27	44					0	0	0.027356	0	0
OR11A1	26531	broad.mit.edu	37	6	29394788	29394788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:29394788G>A	ENST00000377149.1	-	5	1103	c.631C>T	c.(631-633)Cct>Tct	p.P211S	OR11A1_ENST00000377148.1_Missense_Mutation_p.P211S|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.P211S			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						AGTCCAAAAGGAATAGTGAGG	0.507000													13	30					0	0	0.016723	0	0
EHHADH	1962	broad.mit.edu	37	3	184910290	184910290	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:184910290G>A	ENST00000231887.3	-	7	1971	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	EHHADH_ENST00000456310.1_Silent_p.F536F	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	632						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CCAAGATACGGAATGCTTCAT	0.458000													35	67					0	0	0.017118	0	0
MRPS17P9	359760	broad.mit.edu	37	X	118513709	118513709	+	RNA	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:118513709G>A	ENST00000413240.1	-	0	491																											CATGCCAAATGGATTATGGGG	0.458000													14	9					0	0	0.020292	0	0
ERN2	10595	broad.mit.edu	37	16	23716268	23716268	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:23716268G>A	ENST00000256797.4	-	8	1102	c.934C>T	c.(934-936)Cga>Tga	p.R312*	ERN2_ENST00000457008.2_Nonsense_Mutation_p.R264*	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	264					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCAGGCAGTCGGATGTGGCCC	0.677000													36	70					0	0	0.015359	0	0
HCN1	348980	broad.mit.edu	37	5	45645406	45645406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:45645406C>T	ENST00000303230.4	-	2	787	c.730G>A	c.(730-732)Gat>Aat	p.D244N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	244						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						ACTTCAGAATCCATTCCTTTT	0.353000													3	17					0	0	0.004672	0	0
ERCC6	2074	broad.mit.edu	37	10	50740971	50740971	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:50740971C>T	ENST00000355832.5	-	2	118	c.40G>A	c.(40-42)Gag>Aag	p.E14K	PGBD3_ENST00000603152.1_Missense_Mutation_p.E14K|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.E14K|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E14K	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	14					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAGTCTTGCTCCTGAGTTTGA	0.408000								Direct reversal of damage;Nucleotide excision repair (NER)					12	36					0	0	0.010729	0	0
ANKRD52	283373	broad.mit.edu	37	12	56639219	56639219	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:56639219G>A	ENST00000267116.7	-	21	2467	c.2346C>T	c.(2344-2346)ccC>ccT	p.P782P		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	782							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CGGCATCCAGGGGATCTGTGG	0.627000													21	25					0	0	0.010504	0	0
PM20D1	148811	broad.mit.edu	37	1	205801883	205801883	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:205801883G>A	ENST00000367136.4	-	11	1172	c.1128C>T	c.(1126-1128)ctC>ctT	p.L376L	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	376						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TGTTCTTCGTGAGTTCTAGGA	0.463000													23	58					0	0	0.018920	0	0
KALRN	8997	broad.mit.edu	37	3	124196142	124196142	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:124196142C>T	ENST00000360013.3	+	27	4273	c.4146C>T	c.(4144-4146)tcC>tcT	p.S1382S	KALRN_ENST00000240874.3_Silent_p.S1382S|KALRN_ENST00000460856.1_Silent_p.S1373S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1382	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCCTGATTCCAACCAGCTTA	0.403000													20	60					0	0	0.018920	0	0
NOS2	4843	broad.mit.edu	37	17	26108131	26108131	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:26108131G>A	ENST00000313735.6	-	8	1028	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	265					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CAGCATAGCGGATGAGCTGAG	0.597000													34	53					0	0	0.017118	0	0
DOPEY1	23033	broad.mit.edu	37	6	83850123	83850123	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:83850123G>A	ENST00000349129.2	+	23	5675		c.e23+1		DOPEY1_ENST00000369739.3_Splice_Site|DOPEY1_ENST00000484282.1_Splice_Site|DOPEY1_ENST00000237163.5_Splice_Site	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1						protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGCTACAAAGGTTAGACAATT	0.378000													22	61					0	0	0.014323	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20585929	20585929	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:20585929A>T	ENST00000202677.6	-	15	2070	c.1928T>A	c.(1927-1929)aTt>aAt	p.I643N	RALGAPA2_ENST00000495793.1_5'UTR	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	643					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GGAGTCCATAATGTTGGCCCA	0.448000													11	35					0	0	0.016723	0	0
PRR23B	389151	broad.mit.edu	37	3	138739226	138739226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:138739226C>T	ENST00000329447.5	-	1	542	c.278G>A	c.(277-279)gGt>gAt	p.G93D	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	93										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTGTGTCCACCGAGAGACAC	0.657000													20	52					0	0	0.010504	0	0
CDH6	1004	broad.mit.edu	37	5	31316371	31316371	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:31316371G>A	ENST00000265071.2	+	9	1712	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	CDH6_ENST00000514738.1_Missense_Mutation_p.D428N	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	483	Cadherin 4.				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						AGATGTCAATGACAACGCCCC	0.338000													11	21					0	0	0.008291	0	0
ZNF880	400713	broad.mit.edu	37	19	52877582	52877582	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:52877582C>T	ENST00000422689.2	+	3	185	c.170C>T	c.(169-171)tCc>tTc	p.S57F	ZNF880_ENST00000597976.1_Missense_Mutation_p.S57F|ZNF880_ENST00000344085.5_Missense_Mutation_p.S57F|ZNF880_ENST00000600321.1_Missense_Mutation_p.S57F|ZNF880_ENST00000424032.2_Missense_Mutation_p.S57F	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	57	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AGTGTTATCTCCATGTTGGAG	0.433000													8	13					0	0	0.004482	0	0
KEL	3792	broad.mit.edu	37	7	142640576	142640576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:142640576G>A	ENST00000355265.2	-	15	2174	c.1700C>T	c.(1699-1701)cCc>cTc	p.P567L		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	567					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCCATACCTGGGATAGCCAGG	0.532000													40	92					0	0	0.010771	0	0
TMEM89	440955	broad.mit.edu	37	3	48658389	48658389	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:48658389G>A	ENST00000330862.3	-	2	464	c.366C>T	c.(364-366)ctC>ctT	p.L122L		NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN	transmembrane protein 89	122						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGACCCCACGGAGCAGGGTGT	0.612000													35	64					0	0	0.013726	0	0
ADRA1A	148	broad.mit.edu	37	8	26627945	26627945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:26627945C>T	ENST00000380573.3	-	3	2145	c.1122G>A	c.(1120-1122)atG>atA	p.M374I	ADRA1A_ENST00000276393.4_Missense_Mutation_p.M374I|ADRA1A_ENST00000380582.3_Missense_Mutation_p.M374I|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.M374I|ADRA1A_ENST00000519229.1_Missense_Mutation_p.M374I|ADRA1A_ENST00000380586.1_Missense_Mutation_p.M374I			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	374					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GGATGCGCACCATGTCCTTGT	0.552000													42	65					0	0	0.036044	0	0
THEMIS	387357	broad.mit.edu	37	6	128222074	128222074	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:128222074C>T	ENST00000543064.1	-	1	152	c.4G>A	c.(4-6)Gca>Aca	p.A2T	THEMIS_ENST00000368248.2_Missense_Mutation_p.A2T|THEMIS_ENST00000368250.1_5'UTR|THEMIS_ENST00000537166.1_Intron	NM_001164685.1	NP_001158157.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	2	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGTGATAATGCCATTGCTATG	0.502000													36	49					0	0	0.023175	0	0
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:3427759C>T	ENST00000529482.1	+	0	876																											TGTCTGCACACGTCCTGCAGT	0.612000													3	43					0	0	0.009096	0	0
ATXN1	6310	broad.mit.edu	37	6	16327062	16327062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:16327062C>T	ENST00000244769.4	-	8	2416	c.1480G>A	c.(1480-1482)Gtc>Atc	p.V494I	ATXN1_ENST00000436367.1_Missense_Mutation_p.V494I	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	494	Self-association.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GTGCTGCCGACCGGGATGAGC	0.662000													59	143					0	0	0.014410	0	0
DYTN	391475	broad.mit.edu	37	2	207558010	207558010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:207558010G>A	ENST00000452335.2	-	9	985	c.869C>T	c.(868-870)aCc>aTc	p.T290I		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	290						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GTTTCTGAGGGTCCTGAAGAG	0.488000													5	43					0	0	0.014758	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6087146	6087146	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:6087146C>T	ENST00000409021.3	-	4	1284		c.e4+1		JAKMIP1_ENST00000409371.3_Splice_Site|JAKMIP1_ENST00000282924.5_Splice_Site|JAKMIP1_ENST00000457227.2_Splice_Site|JAKMIP1_ENST00000410077.2_Splice_Site|JAKMIP1_ENST00000409831.1_Splice_Site	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1						protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGCCCCTCACCTGGACGCCC	0.612000													8	9					0	0	0.004482	0	0
CNTD1	124817	broad.mit.edu	37	17	40951250	40951250	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:40951250C>T	ENST00000588408.1	+	1	441	c.165C>T	c.(163-165)atC>atT	p.I55I	CNTD1_ENST00000588527.1_Intron	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	55	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGCCCCAGATCGTGGGTGCGG	0.602000													5	16					0	0	0.014758	0	0
NALCN	259232	broad.mit.edu	37	13	101717760	101717760	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr13:101717760G>A	ENST00000251127.6	-	40	4681	c.4600C>T	c.(4600-4602)Ctg>Ttg	p.L1534L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1534						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGTACCTCAGGACATCATGG	0.537000													32	98					0	0	0.017118	0	0
PLCL2	23228	broad.mit.edu	37	3	17053049	17053049	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:17053049C>T	ENST00000418129.2	+	2	2298	c.1833C>T	c.(1831-1833)gtC>gtT	p.V611V	PLCL2_ENST00000432376.1_Silent_p.V611V|PLCL2_ENST00000396755.2_Silent_p.V611V	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	737					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGGAGGAGGTCTCCTTCTTCA	0.502000													17	52					0	0	0.008871	0	0
C2CD3	26005	broad.mit.edu	37	11	73759367	73759367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:73759367G>A	ENST00000334126.7	-	28	5604	c.5378C>T	c.(5377-5379)cCc>cTc	p.P1793L	C2CD3_ENST00000313663.7_Missense_Mutation_p.P1793L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1793						centrosome		p.P1793L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GAAGGAAAAGGGACTGTATAT	0.418000													5	5					0	0	0.021553	0	0
LCE1E	353135	broad.mit.edu	37	1	152759990	152759990	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:152759990G>A	ENST00000368770.3	+	2	268	c.215G>A	c.(214-216)gGa>gAa	p.G72E	LCE1E_ENST00000368771.1_Missense_Mutation_p.G72E	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	72	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTCTGGGGGAGGTGGCTGC	0.682000													32	71					0	0	0.012213	0	0
OR5H15	403274	broad.mit.edu	37	3	97887904	97887904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:97887904G>A	ENST00000356526.2	+	1	361	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	121					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						AATGGCATATGATCGCTATGT	0.373000													24	72					0	0	0.009535	0	0
PRSS1	5644	broad.mit.edu	37	7	142460305	142460305	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:142460305T>C	ENST00000486171.1	+	5	537	c.520T>C	c.(520-522)Tgc>Cgc	p.C174R	PRSS1_ENST00000311737.7_Missense_Mutation_p.C160R			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	160	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CGAGCTGCAGTGCCTGGATGC	0.522000													12	472					0	0	0.020292	0	0
C1orf168	199920	broad.mit.edu	37	1	57185864	57185864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:57185864G>A	ENST00000343433.6	-	18	2193	c.2113C>T	c.(2113-2115)Cgt>Tgt	p.R705C		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	705										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTAGAATTACGACATATCACT	0.269000													7	24					0	0	0.029380	0	0
ABCC3	8714	broad.mit.edu	37	17	48755254	48755254	+	Silent	SNP	T	T	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:48755254T>C	ENST00000285238.8	+	24	3608	c.3528T>C	c.(3526-3528)acT>acC	p.T1176T		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1176	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCAGTGATACTAAGGTGGATG	0.572000													76	121					0	0	0.014410	0	0
RYR3	6263	broad.mit.edu	37	15	34102840	34102840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:34102840G>A	ENST00000389232.4	+	71	10257	c.10187G>A	c.(10186-10188)cGa>cAa	p.R3396Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R3391Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3396					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCAAAATCGCGATACAGCCAT	0.547000													17	29					0	0	0.033300	0	0
AMBRA1	55626	broad.mit.edu	37	11	46465037	46465037	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:46465037C>T	ENST00000458649.2	-	12	3051		c.e12+1		AMBRA1_ENST00000314845.3_Splice_Site|AMBRA1_ENST00000298834.3_Splice_Site|AMBRA1_ENST00000426438.1_Splice_Site|AMBRA1_ENST00000534300.1_Splice_Site|AMBRA1_ENST00000533727.1_Splice_Site|AMBRA1_ENST00000528950.1_Splice_Site			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1						autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CATTGACTTACCATTACTGAT	0.458000													6	15					0	0	0.003080	0	0
SGSH	6448	broad.mit.edu	37	17	78188523	78188523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:78188523G>A	ENST00000326317.6	-	4	483	c.397C>T	c.(397-399)Ccg>Tcg	p.P133S	SGSH_ENST00000534910.1_5'UTR|SGSH_ENST00000572208.1_Intron|SGSH_ENST00000570923.1_Silent_p.T144T	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	133					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AAGTCAAACGGGTACACGGTC	0.597000													26	30					0	0	0.034045	0	0
TAOK2	9344	broad.mit.edu	37	16	29998831	29998831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:29998831G>A	ENST00000308893.4	+	16	4281	c.3238G>A	c.(3238-3240)Ggc>Agc	p.G1080S	TAOK2_ENST00000416441.2_Missense_Mutation_p.G907S|TAOK2_ENST00000543033.1_Missense_Mutation_p.G967S|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1080					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						GGTGCGCCGGGGCATATCTCG	0.692000													36	70					0	0	0.017118	0	0
MAP3K10	4294	broad.mit.edu	37	19	40710533	40710533	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:40710533C>T	ENST00000253055.3	+	3	1293	c.1005C>T	c.(1003-1005)ctC>ctT	p.L335L		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	335	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TTGCCCGCCTCCTGGAGGGTG	0.647000													20	44					0	0	0.007413	0	0
TMC5	79838	broad.mit.edu	37	16	19451476	19451476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:19451476C>T	ENST00000396229.2	+	3	865	c.116C>T	c.(115-117)cCa>cTa	p.P39L	TMC5_ENST00000541464.1_Missense_Mutation_p.P39L|TMC5_ENST00000542583.2_Missense_Mutation_p.P39L|TMC5_ENST00000381414.4_Missense_Mutation_p.P39L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	39						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						CCAGATGTTCCAGGTCCTCTG	0.507000													30	70					0	0	0.009535	0	0
RBM42	79171	broad.mit.edu	37	19	36124003	36124003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:36124003C>T	ENST00000262633.4	+	6	638	c.533C>T	c.(532-534)gCc>gTc	p.A178V	RBM42_ENST00000588161.1_Splice_Site_p.A148_splice|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000592202.1_Missense_Mutation_p.A124V|RBM42_ENST00000589871.1_Missense_Mutation_p.A156V|RBM42_ENST00000360475.4_Missense_Mutation_p.A149V|RBM42_ENST00000589559.1_Missense_Mutation_p.A149V	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	178						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCTGCAGCAGCCGGCCCCCGC	0.682000													39	131					0	0	0.030466	0	0
FOXP4	116113	broad.mit.edu	37	6	41555145	41555145	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:41555145C>T	ENST00000373060.1	+	7	1225	c.767C>T	c.(766-768)gCc>gTc	p.A256V	FOXP4_ENST00000373057.3_Missense_Mutation_p.A254V|FOXP4_ENST00000373063.3_Missense_Mutation_p.A255V|FOXP4_ENST00000409208.1_Missense_Mutation_p.A256V|FOXP4_ENST00000307972.4_Missense_Mutation_p.A256V	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	256					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					ACTGGCACGGCCGCCACCGCT	0.682000											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	33	93					0	0	0.015359	0	0
ACKR2	1238	broad.mit.edu	37	3	42906333	42906333	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:42906333G>A	ENST00000422265.1	+	3	514	c.339G>A	c.(337-339)ggG>ggA	p.G113G	KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000442925.1_Silent_p.G113G|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Silent_p.G113G	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		GGGTCTTCGGGAGTTTCTTGT	0.483000													46	126					0	0	0.014410	0	0
ANK3	288	broad.mit.edu	37	10	61830627	61830627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:61830627C>T	ENST00000280772.1	-	37	10203	c.10012G>A	c.(10012-10014)Gaa>Aaa	p.E3338K	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3338					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						TCGTCCACTTCCTTTAATTTG	0.403000													38	81					0	0	0.021022	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839468	100839468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:100839468C>T	ENST00000440203.2	-	6	928	c.871G>A	c.(871-873)Ggt>Agt	p.G291S	MOGAT3_ENST00000379423.3_Intron|MOGAT3_ENST00000223114.4_Splice_Site_p.V291_splice			Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	291					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GGGCACTCACCCACAGTGGTG	0.667000													4	9					0	0	0.009096	0	0
SI	6476	broad.mit.edu	37	3	164709234	164709234	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:164709234T>A	ENST00000264382.3	-	44	5077	c.5015A>T	c.(5014-5016)cAa>cTa	p.Q1672L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1672	Sucrase.				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)	ATTAAATGTTTGAAATTGTCC	0.418000										HNSCC(35;0.089)			11	35					0	0	0.010729	0	0
METAP1D	254042	broad.mit.edu	37	2	172928456	172928456	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:172928456C>T	ENST00000315796.4	+	3	603	c.216C>T	c.(214-216)gaC>gaT	p.D72D	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	72					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						AGAAGCCAGACTATGTGACGA	0.478000													7	14					0	0	0.003080	0	0
INSL5	10022	broad.mit.edu	37	1	67263797	67263797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:67263797G>A	ENST00000304526.2	-	2	341	c.307C>T	c.(307-309)Ctt>Ttt	p.L103F		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	103						extracellular region	hormone activity			breast(2)|endometrium(1)|lung(5)	8						GACTTCCAAAGCTCTTCAGTG	0.458000													29	24					0	0	0.030593	0	0
BRCA2	675	broad.mit.edu	37	13	32907279	32907279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr13:32907279C>T	ENST00000544455.1	+	10	1891	c.1664C>T	c.(1663-1665)cCa>cTa	p.P555L	BRCA2_ENST00000380152.3_Missense_Mutation_p.P555L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	555					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)		TCCTTATGTCCAAATTTAATT	0.378000			"""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)			26	34					0	0	0.027356	0	0
NUP107	57122	broad.mit.edu	37	12	69109417	69109417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:69109417C>T	ENST00000229179.4	+	12	1312	c.980C>T	c.(979-981)gCt>gTt	p.A327V	NUP107_ENST00000378905.2_Missense_Mutation_p.A176V|NUP107_ENST00000539906.1_Missense_Mutation_p.A298V	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	327					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GACCCTGATGCTCCCATAAGA	0.358000													36	72					0	0	0.021022	0	0
CEACAM5	1048	broad.mit.edu	37	19	42219622	42219622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:42219622G>A	ENST00000221992.6	+	4	871	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	CEACAM5_ENST00000405816.1_Missense_Mutation_p.E253K|CEACAM5_ENST00000398599.4_Missense_Mutation_p.E253K|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	253	Ig-like 3.					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)		CAGATCAGGGGAAAATCTGAA	0.493000													20	48					0	0	0.007413	0	0
CAPN13	92291	broad.mit.edu	37	2	30973992	30973992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:30973992G>A	ENST00000295055.8	-	11	1389	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	CAPN13_ENST00000534090.2_Missense_Mutation_p.P405S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	405					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.P405S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AAATCGAGTGGAAATTTTGCA	0.463000													6	25					0	0	0.021553	0	0
TSPAN18	90139	broad.mit.edu	37	11	44931324	44931324	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:44931324C>T	ENST00000340160.3	+	4	371	c.132C>T	c.(130-132)atC>atT	p.I44I	TSPAN18_ENST00000520358.2_Silent_p.I44I	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN	tetraspanin 18	44						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						TCCGGGAGATCGTGGCTGCCA	0.692000													24	43					0	0	0.024334	0	0
CYP4F3	4051	broad.mit.edu	37	19	15763658	15763658	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:15763658C>T	ENST00000221307.7	+	9	1059	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000586182.1_Silent_p.L337L|CYP4F3_ENST00000585846.1_Silent_p.L337L|CYP4F3_ENST00000591058.1_Silent_p.L337L	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	337					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCAGTGGTCTCTCCTGGGTCC	0.597000											OREG0007254	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CYP4F3|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	18	48					0	0	0.033300	0	0
TMEM119	338773	broad.mit.edu	37	12	108985508	108985508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:108985508C>T	ENST00000392806.3	-	2	820	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	218						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CCCTGGACTTCCTGGTCCCCC	0.701000													28	89					0	0	0.030593	0	0
RANBP3L	202151	broad.mit.edu	37	5	36265122	36265122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:36265122C>T	ENST00000296604.3	-	6	904	c.419G>A	c.(418-420)aGa>aAa	p.R140K	RANBP3L_ENST00000502994.1_Missense_Mutation_p.R165K|RANBP3L_ENST00000515759.1_Missense_Mutation_p.R140K	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	140					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			AAATGTTTTTCTTACTTTTGC	0.373000													25	50					0	0	0.027356	0	0
CILP2	148113	broad.mit.edu	37	19	19656266	19656266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:19656266G>A	ENST00000586018.1	+	8	3032	c.2930G>A	c.(2929-2931)gGa>gAa	p.G977E	CILP2_ENST00000291495.4_Missense_Mutation_p.G971E			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	971						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						CAGCTCTACGGACTTCGGGAT	0.672000													16	21					0	0	0.028581	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1195178	1195178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:1195178G>A	ENST00000401903.1	-	4	452	c.193C>T	c.(193-195)Cca>Tca	p.P65S	ZFAND2A_ENST00000316495.3_Missense_Mutation_p.P65S			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	65						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		TTTTTTACTGGGATGGGGGTA	0.458000													26	103					0	0	0.021523	0	0
KCNMA1	3778	broad.mit.edu	37	10	78651306	78651306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:78651306C>T	ENST00000286627.5	-	25	4097	c.3145G>A	c.(3145-3147)Gat>Aat	p.D1049N	RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000286628.8_Missense_Mutation_p.D1107N|KCNMA1_ENST00000404771.3_Missense_Mutation_p.D1107N|KCNMA1_ENST00000372440.1_Missense_Mutation_p.D1049N|RP11-443A13.5_ENST00000595702.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.D1111N|KCNMA1_ENST00000404857.1_Missense_Mutation_p.D1090N|KCNMA1_ENST00000354353.5_Missense_Mutation_p.D1110N|KCNMA1_ENST00000372443.1_Missense_Mutation_p.D1076N	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1107	Segment S10.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AATGGCCCATCGAGCAGAGCT	0.572000													16	25					0	0	0.028581	0	0
WDR31	114987	broad.mit.edu	37	9	116085415	116085415	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:116085415G>A	ENST00000374193.4	-	6	591	c.345C>T	c.(343-345)tcC>tcT	p.S115S	WDR31_ENST00000341761.4_Silent_p.S114S|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	115										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						AGAACTGGCTGGATTTGGGAA	0.493000													21	53					0	0	0.016522	0	0
MYOM3	127294	broad.mit.edu	37	1	24424459	24424459	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:24424459C>T	ENST00000330966.7	-	7	864	c.702G>A	c.(700-702)aaG>aaA	p.K234K	MYOM3_ENST00000374434.3_Silent_p.K233K|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.K233K			Q5VTT5	MYOM3_HUMAN	myomesin 3	233	Ig-like C2-type 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CGTGGGCGTTCTTCACTCGCA	0.587000													97	200					0	0	0.014410	0	0
PALD1	27143	broad.mit.edu	37	10	72298062	72298062	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:72298062C>T	ENST00000263563.6	+	12	1618	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CCCTCAGTTTCAGCCGCTGGC	0.672000													13	47					0	0	0.020292	0	0
KIAA1755	85449	broad.mit.edu	37	20	36874432	36874432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:36874432G>A	ENST00000279024.4	-	2	371	c.100C>T	c.(100-102)Cgt>Tgt	p.R34C		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	34										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TCCAGGAGACGGAACACCTGA	0.622000													22	33					0	0	0.012319	0	0
ALDOB	229	broad.mit.edu	37	9	104189764	104189764	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:104189764C>T	ENST00000374855.4	-	5	664	c.540_splice	c.e5+1	p.Q180_splice	ALDOB_ENST00000468981.2_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	180					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	p.Q180H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GGCAGAGCACCTGCTGACAGA	0.512000													16	36					0	0	0.024245	0	0
GALK2	2585	broad.mit.edu	37	15	49611928	49611928	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:49611928C>G	ENST00000327171.3	+	9	1294	c.1062C>G	c.(1060-1062)aaC>aaG	p.N354K	GALK2_ENST00000396509.2_Missense_Mutation_p.N341K|GALK2_ENST00000544523.1_Missense_Mutation_p.N341K|GALK2_ENST00000560031.1_Missense_Mutation_p.N365K|GALK2_ENST00000559454.1_Missense_Mutation_p.N341K|GALK2_ENST00000543495.1_3'UTR	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2	365					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		AGTTGATGAACCAGAGCCACA	0.567000													7	40					0	0	0.003080	0	0
ELMO3	79767	broad.mit.edu	37	16	67233464	67233464	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:67233464C>T	ENST00000393997.2	+	2	303	c.246C>T	c.(244-246)ccC>ccT	p.P82P	ELMO3_ENST00000477898.1_5'UTR|ELMO3_ENST00000360833.1_Silent_p.P82P	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	29					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		AGGCGAAGCCCCTGGCCGCTG	0.761000													15	33					0	0	0.006122	0	0
DNAH17	8632	broad.mit.edu	37	17	76492083	76492083	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:76492083T>A	ENST00000389840.5	-	38	5859	c.5735A>T	c.(5734-5736)aAg>aTg	p.K1912M	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.K1921M					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGCTTTTTTCTTGGCCCGAAT	0.527000													19	44					0	0	0.008871	0	0
TRAJ48	28707	broad.mit.edu	37	14	22959513	22959513	+	RNA	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr14:22959513G>A	ENST00000390489.1	+	0	35																											TAACCTTTGGGACTGGAACAA	0.423000													14	20					0	0	0.028581	0	0
PCP4	5121	broad.mit.edu	37	21	41301006	41301006	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr21:41301006C>T	ENST00000328619.5	+	3	344	c.159C>T	c.(157-159)ttC>ttT	p.F53F	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	53	IQ.				central nervous system development	cytosol|nucleus		p.F53L(1)		large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				TCAGAAAATTCCAGAAGAAGA	0.448000													9	36					0	0	0.004482	0	0
CA10	56934	broad.mit.edu	37	17	49825170	49825170	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:49825170C>T	ENST00000451037.2	-	4	1228	c.288G>A	c.(286-288)ggG>ggA	p.G96G	CA10_ENST00000442502.2_Silent_p.G96G|CA10_ENST00000570565.1_Silent_p.G21G|CA10_ENST00000285273.4_Silent_p.G96G|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000340813.6_Silent_p.G102G	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	96					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TGTACATGGTCCCACTGACCT	0.537000													19	48					0	0	0.012319	0	0
PAX3	5077	broad.mit.edu	37	2	223161825	223161825	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:223161825G>A	ENST00000350526.4	-	2	329	c.193C>T	c.(193-195)Cac>Tac	p.H65Y	PAX3_ENST00000258387.5_Missense_Mutation_p.H65Y|PAX3_ENST00000409828.3_Missense_Mutation_p.H65Y|PAX3_ENST00000336840.6_Missense_Mutation_p.H65Y|PAX3_ENST00000392070.2_Missense_Mutation_p.H65Y|PAX3_ENST00000392069.2_Missense_Mutation_p.H65Y|PAX3_ENST00000409551.3_Missense_Mutation_p.H65Y|PAX3_ENST00000344493.4_Missense_Mutation_p.H65Y	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	65	Paired.		Missing (in WS1).		apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGATGCCGTGGTGGGCCATC	0.657000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						5	15					0	0	0.021553	0	0
ATG9B	285973	broad.mit.edu	37	7	150718391	150718391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:150718391G>A	ENST00000605938.1	-	5	922	c.847C>T	c.(847-849)Ctc>Ttc	p.L283F	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Silent_p.S20S|ATG9B_ENST00000605952.1_Missense_Mutation_p.L283F|ATG9B_ENST00000377974.2_Missense_Mutation_p.L283F	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	283					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCAGGAGGAGGACCAGCAGC	0.622000													20	68					0	0	0.012319	0	0
MUC16	94025	broad.mit.edu	37	19	9085375	9085375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:9085375G>A	ENST00000397910.4	-	1	6643	c.6440C>T	c.(6439-6441)cCa>cTa	p.P2147L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2147	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATGGCCATTGGAAGAGGGAC	0.488000													35	53					0	0	0.015359	0	0
HAUS5	23354	broad.mit.edu	37	19	36106232	36106232	+	Silent	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:36106232C>T	ENST00000203166.5	+	6	454	c.429C>T	c.(427-429)ctC>ctT	p.L143L	HAUS5_ENST00000379045.2_Silent_p.L143L	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	143					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AGCATACGCTCCGAGATCCCA	0.652000													8	13					0	0	0.003080	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810890	106810890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:106810890C>T	ENST00000526355.1	-	4	970	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.E168K|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.E168K	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	168					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTTTGAATTTCCTCAAACTTC	0.318000													11	23					0	0	0.010729	0	0
DDC	1644	broad.mit.edu	37	7	50611656	50611656	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:50611656G>A	ENST00000444124.2	-	2	328	c.128C>T	c.(127-129)cCt>cTt	p.P43L	DDC_ENST00000357936.5_Missense_Mutation_p.P43L|DDC_ENST00000431062.1_Missense_Mutation_p.P43L|DDC_ENST00000426377.1_Missense_Mutation_p.P43L|DDC_ENST00000380984.4_Missense_Mutation_p.P43L	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	43					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GGCAGCGGCAGGGATCAGCGG	0.562000													113	142					0	0	0.014410	0	0
CYP21A2	1589	broad.mit.edu	37	6	32008226	32008226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:32008226C>T	ENST00000418967.2	+	8	1141	c.983C>T	c.(982-984)cCt>cTt	p.P328L	CYP21A2_ENST00000435122.2_Missense_Mutation_p.P298L	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	327					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						GAACTGGGCCCTGGTGCCTCC	0.677000													65	252					0	0	0.014410	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297868	139297868	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:139297868A>C	ENST00000406164.1	-	4	591	c.28T>G	c.(28-30)Tct>Gct	p.S10A	NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000512391.1_Missense_Mutation_p.S47A|RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000511444.1_Missense_Mutation_p.S10A|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000339837.5_Missense_Mutation_p.S10A|NMNAT3_ENST00000296202.7_Missense_Mutation_p.S47A			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	47					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						TTGACAGGAGAGATGATACCC	0.557000													11	18					0	0	0.013537	0	0
KCNIP2	30819	broad.mit.edu	37	10	103599527	103599527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:103599527G>A	ENST00000348850.5	-	1	102	c.71C>T	c.(70-72)aCt>aTt	p.T24I	KCNIP2_ENST00000370046.1_Intron|KCNIP2_ENST00000353068.3_Intron|KCNIP2_ENST00000356640.2_Intron|KCNIP2_ENST00000343195.4_Intron|KCNIP2_ENST00000355657.2_Intron|KCNIP2_ENST00000461105.1_Intron|KCNIP2_ENST00000358038.3_Intron	NM_173194.2	NP_775286.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	0					clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		CAGCGACCCAGTCACCAGCTG	0.642000													46	104					0	0	0.014410	0	0
TSPAN32	10077	broad.mit.edu	37	11	2334923	2334923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:2334923G>A	ENST00000182290.4	+	5	531	c.394G>A	c.(394-396)Gag>Aag	p.E132K	TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000381121.3_Missense_Mutation_p.E132K|TSPAN32_ENST00000451520.2_Missense_Mutation_p.E121K	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	132					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCTGGTATATGAGCAGGCGAT	0.677000													5	10					0	0	0.014758	0	0
ANK1	286	broad.mit.edu	37	8	41655036	41655036	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:41655036G>A	ENST00000396942.1	-	1	104	c.21C>T	c.(19-21)ttC>ttT	p.F7F	ANK1_ENST00000265709.8_Intron|ANK1_ENST00000521407.1_5'UTR|ANK1_ENST00000396945.1_Silent_p.F7F|ANK1_ENST00000352337.4_Silent_p.F7F|ANK1_ENST00000379758.2_Silent_p.F7F|ANK1_ENST00000289734.7_Silent_p.F7F|ANK1_ENST00000347528.4_Silent_p.F7F			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	7	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCACTTCGCGGAAGCCCACAG	0.687000													7	11					0	0	0.004482	0	0
HNF4A	3172	broad.mit.edu	37	20	43058205	43058205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:43058205G>A	ENST00000316099.3	+	10	1414	c.1325G>A	c.(1324-1326)gGg>gAg	p.G442E	HNF4A_ENST00000457232.1_Missense_Mutation_p.G410E|HNF4A_ENST00000415691.1_Missense_Mutation_p.G432E	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	442					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTGGCTCAGGGTCTGAGCCC	0.597000													139	328					0	0	0.014410	0	0
FZD2	2535	broad.mit.edu	37	17	42636670	42636670	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:42636670G>C	ENST00000315323.3	+	1	1746	c.1614G>C	c.(1612-1614)tgG>tgC	p.W538C		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	538					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGGGCTTCTGGATCTGGTCGG	0.627000													9	25					0	0	0.006214	0	0
HECTD2	143279	broad.mit.edu	37	10	93256117	93256117	+	Silent	SNP	T	T	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:93256117T>C	ENST00000446394.1	+	16	1780	c.1680T>C	c.(1678-1680)tgT>tgC	p.C560C	HECTD2_ENST00000536715.1_Silent_p.C145C|HECTD2_ENST00000371667.1_Silent_p.C206C|HECTD2_ENST00000298068.5_Silent_p.C556C			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	556	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ACGACTTATGTCAAATTATGC	0.378000													15	30					0	0	0.024245	0	0
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77227925	77227925	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:77227925G>A	ENST00000237642.6	+	1	747	c.3G>A	c.(1-3)atG>atA	p.M1I	FAM47E-STBD1_ENST00000539752.1_Intron|FAM47E_ENST00000515604.1_Intron	NM_003943.4	NP_003934.1																					TCTCAGCCATGGGCGCCGTCT	0.701000													21	19					0	0	0.016522	0	0
HUWE1	10075	broad.mit.edu	37	X	53631699	53631699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:53631699G>A	ENST00000342160.3	-	25	3050	c.2593C>T	c.(2593-2595)Cct>Tct	p.P865S	HUWE1_ENST00000262854.6_Missense_Mutation_p.P865S|HUWE1_ENST00000218328.8_Missense_Mutation_p.P865S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	865					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAGCCCCCAGGGGATTCAATG	0.572000													6	6					0	0	0.029380	0	0
LIMK2	3985	broad.mit.edu	37	22	31674412	31674412	+	Silent	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr22:31674412G>A	ENST00000331728.4	+	16	2016	c.1902G>A	c.(1900-1902)cgG>cgA	p.R634R	LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000333611.4_Silent_p.R613R|LIMK2_ENST00000444929.2_Silent_p.R388R	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	634						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GCCTGACCCGGGACTCACCTC	0.667000													44	69					0	0	0.036044	0	0
MUC16	94025	broad.mit.edu	37	19	9049101	9049101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:9049101G>A	ENST00000397910.4	-	5	32733	c.32530C>T	c.(32530-32532)Cat>Tat	p.H10844Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10846	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						GATTTACTATGGAAAAAAATG	0.483000													44	90					0	0	0.014410	0	0
DNAH9	1770	broad.mit.edu	37	17	11648297	11648297	+	Missense_Mutation	SNP	C	C	T	rs149674795		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:11648297C>T	ENST00000262442.3	+	31	6363	c.6295C>T	c.(6295-6297)Ccc>Tcc	p.P2099S	DNAH9_ENST00000454412.2_Missense_Mutation_p.P2099S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2099					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P2099S(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGACCTCTTTCCCGCCCTGGA	0.557000													8	38					0	0	0.003080	0	0
PXDNL	137902	broad.mit.edu	37	8	52320801	52320801	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:52320801G>A	ENST00000356297.4	-	17	3483	c.3383C>T	c.(3382-3384)tCc>tTc	p.S1128F	PXDNL_ENST00000543296.1_Missense_Mutation_p.S1128F	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1128					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATAAGCCGCGGAGAAGAGCCT	0.572000													72	90					0	0	0.014410	0	0
ATP10B	23120	broad.mit.edu	37	5	160113203	160113203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:160113203G>A	ENST00000327245.5	-	6	1199	c.353C>T	c.(352-354)aCc>aTc	p.T118I	CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	118					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)			TGGTAACATGGTGATTTCTCT	0.473000													3	24					0	0	0.004672	0	0
WDR46	9277	broad.mit.edu	37	6	33248675	33248675	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:33248675delT	ENST00000374617.4	-	11	1561	c.1205delA	c.(1204-1206)ctfs	p.H402fs	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	402										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CCCTGCTCCATGGGGCAGGGT	0.632													31	77	---	---	---	---					
GDPD3	79153	broad.mit.edu	37	16	30119700	30119700	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:30119700delG	ENST00000406256.3	-	8	1138	c.761delC	c.(760-762)tgfs	p.S254fs	RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	254	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						TCACCATTTCGAAACCACAGC	0.567													90	170	---	---	---	---					
WDR81	124997	broad.mit.edu	37	17	1631341	1631343	+	In_Frame_Del	DEL	GAG	GAG	-	rs66598941		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:1631341_1631343delGAG	ENST00000409644.1	+	1	3088_3090	c.3088_3090delGAG	c.(3088-3090)del	p.E1033del	WDR81_ENST00000437219.2_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_5'UTR	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	305										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGGGCTGCTGAGGAGGAGGAGA	0.695													4	4	---	---	---	---					
DLL3	10683	broad.mit.edu	37	19	39989869	39989870	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:39989869_39989870insT	ENST00000205143.4	+	2	114_115	c.107_108insT	c.(106-108)tttfs	p.F36fs	DLL3_ENST00000600579.1_3'UTR|DLL3_ENST00000356433.5_Frame_Shift_Ins_p.F36fs	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	36					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGATCCACTCTTTCGGGCCGG	0.733													4	3	---	---	---	---					
